Generated by All in One SEO v5.0.0.1, this is an llms.txt file, used by LLMs to index the site.
# Action Duchenne
## Sitemaps
- [XML Sitemap](https://www.actionduchenne.org/sitemap.xml): Contains all public & indexable URLs for this website.
## Posts
- [Honouring George and Finding Community](https://www.actionduchenne.org/honouring-george-and-finding-community/) - Louise ran the London Marathon for her brother George who lived with Duchenne. She honours his memory one year after his death.
- [Webinar Series 2026 Recording: Unlocking Wheelchair Access](https://www.actionduchenne.org/webinar-series-2026-recording-unlocking-wheelchair-access/) - Webinar Series 2026 Recording: Unlocking Wheelchair Access Double gold medal winning Paralympian, Mental Health Practitioner and Disability Sports Coach Rachel Morris joined us to talk about navigating the wheelchair access system which we know can often feel overwhelming and complex. She gives an overview of the NHS wheelchair service pathway and introduce active wheelchairs, helping
- [Science Education Workshops: Decoding Duchenne Together](https://www.actionduchenne.org/science-education-workshops-decoding-duchenne-together/) - This Summer our fun filled family days will also offer you the opportunity to discover the science behind Duchenne
- [Halfway Through Action Duchenne’s Webinar Series 2026: Learning, Connecting and Growing Together ](https://www.actionduchenne.org/halfway-through-action-duchennes-webinar-series-2026-learning-connecting-and-growing-together/) - Halfway Through Action Duchenne’s Webinar Series 2026: Learning, Connecting and Growing Together "The support our family has received from Action Duchenne over the years has been a lifeline. We feel seen and feel heard." As we reach the halfway point of our Webinar Series 2026, we are incredibly proud to share the impact this programme is
- [Webinar Series 2026 Recording: Grief and Bereavement](https://www.actionduchenne.org/webinar-series-2026-recording-grief-and-bereavement/) - Webinar Series 2026 Recording: Grief and Bereavement In support of National Bereaved Parents Day, this sensitive and compassionate session is designed for families navigating bereavement after the loss of a child with Duchenne. We're joined by Dr David Schonfeld, renowned paediatrician and child development expert with over three decades of experience supporting people through trauma,
- [Solid Biosciences Shares Update on SGT-003 Duchenne Gene Therapy Programme](https://www.actionduchenne.org/solid-biosciences-shares-update-on-sgt-003-duchenne-gene-therapy-programme/) - Solid Biosciences has shared an update on SGT-003, its investigational gene therapy for Duchenne muscular dystrophy (DMD), coinciding with presentations at the annual Parent Project Muscular Dystrophy (PPMD) conference in the United States. What is SGT-003? SGT-003 is an investigational gene therapy being developed by Solid Biosciences. It uses an adeno-associated virus (AAV) to deliver
- [Louise's London Marathon Story](https://www.actionduchenne.org/louises-london-marathon-story/) - Louise's London Marathon Story Written by Louise Ruddick "My relationship with Action Duchenne came about very spontaneously at the beginning of January this year. My brother, George, was diagnosed with Duchenne back in 1992, just before his third birthday. He was obviously too young to be aware however the impact that it had on our
- [We're Recruiting: Director of Services and Safeguarding](https://www.actionduchenne.org/welcome-to-action-duchenne/) - We're Recruiting: Director of Services and Safeguarding Welcome to Action Duchenne “Your child has Duchenne Muscular Dystrophy”. These are the words that almost 2 families a week will hear in the UK. Duchenne, a rare and progressive muscle wasting and life limiting condition affects approximately 1 in every 3500 boys, with diagnosis between the ages of 3 and 5. Action Duchenne supports
- [Webinar Series 2026 Recording: Hospice and Palliative Care in Duchenne: What it Really Means](https://www.actionduchenne.org/webinar-series-2026-recording-hospice-and-palliative-care-in-duchenne/) - Webinar Series 2026 Recording: Hospice and Palliative Care in Duchenne: What it Really Means In honour of Children's Hospice Week, this webinar focuses on 'Hospice and Palliative Care in Duchenne: What it Really Means. Andrea Benstead and Julia Brodrick from Bassetlaw Hospice explore common misconceptions around hospice and palliative care in Duchenne. Far from signalling
- [Turning Challenges into Change - Our Story with Action Duchenne](https://www.actionduchenne.org/turning-challenges-into-change-our-story-with-action-duchenne/) - I was introduced to Action Duchenne by the Muscle Team in Newcastle shortly after Oliver’s diagnosis in 2017. In those early, overwhelming days, their support meant everything. Members of the Support Team would call just to let me talk, vent, cry — whatever I needed. They were simply there, and that’s why I choose to support them every
- [Webinar Series 2026 Recording: Carer Identity and Sustainability](https://www.actionduchenne.org/webinar-series-2026-recording-carer-identity-and-sustainability/) - Webinar Series 2026 Recording: Carer Identity and Sustainability Honouring National Carers Week 2026 (8th-14th June), this webinar focuses on 'Carer Identity and Sustainability'. Trained counsellor Mark Ashton and our very own AD Outreach Support Officer Kelly Molkenthin who will look at addressing and avoiding burnout, identity loss and isolation, giving yourself permission: why self-care is
- [Make a real difference with our amazing events and challenges](https://www.actionduchenne.org/make-a-real-difference-with-our-amazing-events-and-challenges/) - “I just want to say that Victoria and the rest of the Action Duchenne family are incredible human beings. The support they give is amazing. When you run for them, you’re not just a number or a fundraising target, you genuinely feel like you’re making a difference. You see what your fundraising helps achieve, how
- [Translarna (Ataluren) Not Accepted for Continued Use Under NHSScotland](https://www.actionduchenne.org/translarna-ataluren-not-accepted-for-continued-use-under-nhsscotland/) - The Scottish Medicines Consortium (SMC) has completed a reassessment of Translarna (ataluren) and has decided not to recommend it for routine use within NHS Scotland. Translarna is a treatment for Duchenne muscular dystrophy (DMD) caused by a specific type of genetic change called a nonsense mutation. It is intended for ambulatory patients aged 2 years
- [Entrada Therapeutics Provides Quarterly Update on ELEVATE Studies. ](https://www.actionduchenne.org/entrada-therapeutics-provides-quarterly-update-on-elevate-studies/) - Entrada Therapeutics has shared its latest quarterly update across all four of its active Duchenne programmes. For families in the UK, there are several relevant developments: UK clinical sites are active or authorised across multiple studies, and initial data from one of those trials has now been released. At a Glance Positive initial data from
- [Webinar Series 2026 Recording: Women's Health: Genetics and Decisions](https://www.actionduchenne.org/webinar-series-2026-recording-womens-health-gentics-and-decisions/) - Recorded on 9th March, coinciding with International Women's Day, this webinar shines a light on the often-overlooked health needs of Duchenne carriers. Women carrying the Duchenne gene often experience having their symptoms dismissed or unrecognised, creating uncertainty around the care they require. This session addresses that gap head-on — covering cardiac screening, symptom awareness, and
- [Webinar Series 2026 Recording: Neurodiversity, Learning Difference and Duchenne with Dr James Poysky](https://www.actionduchenne.org/webinar-2026-recording-neurodiversity-learning-difference-and-duchenne-with-dr-james-poysky/) - Recorded on 30th March and coinciding with Neurodiversity Celebration Week, this webinar reframes behaviour in Duchenne through the lens of understanding, not judgement. Children and adults living with Duchenne often experience behaviours that are misread or stigmatised, when in reality they are a direct expression of how the Duchenne brain learns, processes, and responds. This
- [Webinar Series 2026 Recording: Movement that Works Physiotherapy Helping to Keep Muscles Active](https://www.actionduchenne.org/webinar-2026-recording-movement-that-works-physiotherapy-helping-to-keep-muscles-active/) - In honour of International Day of Sport for Development and Peace, Action Duchenne is putting movement at the heart of the conversation. In this webinar, we explore why the right exercise is vital and how it can make a difference in the lives of those living with Duchenne muscular dystrophy. This webinar is delivered by
- [Webinar Series 2026 Recording: Movement that Works Part 2: Building Resilience Through Sports](https://www.actionduchenne.org/webinar-series-2026-recording-movement-that-works-part-2-building-resilience-through-sports/) - Webinar Series 2026 Recording: Movement that Works Part 2: Building Resilience Through Sports Paralympic double gold medallist Rachel Morris joined us for a webinar on using sport to build resilience in the context of Duchenne muscular dystrophy. As a disability sports advocate and mental health practitioner, Rachel explored both the social and medical benefits of
- [Webinar Series 2026 Recording: Growing Up With Duchenne: Sibling Voices](https://www.actionduchenne.org/webinar-2026-recording-growing-up-with-duchenne-sibling-voices/) - Understanding Duchenne Muscular Dystrophy requires looking at the entire family unit. This webinar, held on April 21st, focuses specifically on the sibling perspective - a viewpoint that is essential yet often overlooked. Featuring a panel of siblings at various life stages, this session explores the emotional and social landscape of growing up with a sibling
- [Webinar Series 2026 Recording: Duchenne and the Brain, Why Mental Health, Cognition and Neurodiversity Matters](https://www.actionduchenne.org/webinar-series-2026-recording-duchenne-and-the-brain-why-mental-health-cognition-and-neurodiversity-matters/) - Duchenne and the Brain, Why Mental Health, Cognition and Neurodiversity Matters For Mental Health Awareness Week, we are looking beyond the muscles to explore the neurological side of Duchenne Muscular Dystrophy. We are joined by Professor Francesco Muntoni to discuss the critical role dystrophin plays in the brain and how it shapes the lived experience of neurodiversity within the Duchenne community. DMD is a multisystemic condition and understanding its impact on the brain is essential
- [NICE Approves Givinostat for NHS Use in England](https://www.actionduchenne.org/nice-approves-givinostat-for-nhs-use-in-england/) - We are delighted to share the news that the National Institute for Health and Care Excellence (NICE) has approved Givinostat (Duvyzat) for use within the NHS in England
- [Parent Story: Scott and Vicki share their story of their son's diagnosis of Duchenne and their family's journey.](https://www.actionduchenne.org/parent-story-scott-and-vicky-share-their-story-of-their-sons-diagnosis-of-duchenne-and-their-familys-journey/) - Parent Story: Scott and Vicki share their story of their son's diagnosis of Duchenne and their family's journey so far.
- [Sarepta Provides Regulatory Update on AMONDYS 45 and VYONDYS 53](https://www.actionduchenne.org/sarepta-provides-regulatory-update-on-amondys-45-and-vyondys-53/) - Sarepta Therapeutics has announced that, following completion of the ESSENCE confirmatory study and a period of engagement with the U.S. Food and Drug Administration (FDA), it plans to submit supplemental new drug applications (sNDAs) to the FDA by the end of April 2026. These applications will seek to convert the existing accelerated approvals of AMONDYS
- [Summer Webinar (Recording)- How to Manage the Impact of DMD on Family Members – Parents/Caregivers and Siblings](https://www.actionduchenne.org/summer-webinar-recording-how-to-manage-the-impact-of-dmd-on-family-members-parents-caregivers-and-siblings/) - We are excited to share the recording from the wonderful presentation from the webinar delivered by renowned developmental behavioural paediatrician and regular Action Duchenne conference speaker Dr David Schonfeld on Thursday 1st August. Part 1: Part 2: You’re Invited Our 2024 Annual International Conference will be held on Friday 8th and Saturday 9th November 2024. The
- [Edgewise Therapeutics Announces Long-Term Sevasemten Data in Becker Muscular Dystrophy](https://www.actionduchenne.org/edgewise-therapeutics-announces-long-term-sevasemten-data-in-becker-muscular-dystrophy/) - Edgewise Therapeutics has presented long-term data from the MESA study of sevasemten, an investigational treatment for Becker muscular dystrophy, at the 2026 MDA Clinical and Scientific Conference. The results show sustained functional stabilisation over 3.5 years of follow up. Key Findings The headline result is that participants treated with sevasemten showed stabilisation of function over
- [REGENXBIO Reports New Positive Interim Data from AFFINITY DUCHENNE Trial](https://www.actionduchenne.org/regenxbio-reports-new-positive-interim-data-from-affinity-duchenne-trial/) - REGENXBIO has shared encouraging new data from their ongoing Phase I/II AFFINITY DUCHENNE trial of RGX-202, an investigational gene therapy for Duchenne muscular dystrophy (DMD). This update follows the presentation of the data at the Muscular Dystrophy Association (MDA) conference. Safety One of the most important questions in any clinical trial is whether the treatment
- [Update on givinostat NHS England decision – and what it means for families](https://www.actionduchenne.org/update-on-givinostat-nhs-england-decision-and-what-it-means-for-families/) - The decision on whether Duchenne muscular dystrophy treatment, givinostat, can be offered on the NHS in England for patients aged 6 years and older has been on pause since late 2025, and that pause is now continuing. We know this delay is frustrating, but there are encouraging signs: final discussions are progressing, and the review
- [Entrada Therapeutics: 2026 Clinical Trial Plan & Progress](https://www.actionduchenne.org/entrada-therapeutics-2026-clinical-trial-plan-progress/) - Entrada Therapeutics has shared several key milestones regarding their ELEVATE clinical trial programs. These studies are designed to evaluate the safety and effectiveness of their investigational exon skipping treatments, which aim to help the body "skip" specific errors in the dystrophin gene. We are provided a summary of the ELEVATE clinical trial plans and progress
- [Independent Data Monitoring Committee Recommends Increased Dose in ELEVATE-44-201 Study](https://www.actionduchenne.org/independent-data-monitoring-committee-recommends-increased-dose-in-elevate-44-201-study/) - Entrada Therapeutics has shared encouraging news from its ELEVATE-44-201 clinical study. An independent Data Monitoring Committee (DMC) has completed its review of the first group of participants and given the green light to progress to a higher dose — an encouraging step forward in clinical research for those in the Duchenne community who are exon
- [In memory of Leon Thorn](https://www.actionduchenne.org/in-memory-of-leon-thorn/) - Leon’s life was full of courage, laughter, and love. Though he lived with Duchenne Muscular Dystrophy, it never defined him. Leon was brave, hilarious, kind, and endlessly determined - a gamer, a thinker, and a quiet fighter who inspired everyone around him. In his memory, incredible friends and family came together to keep his spirit alive. Garry,
- [In Loving Memory of Christopher Whittaker ](https://www.actionduchenne.org/in-loving-memory-of-christopher-whittaker/) - Gemma held a fundraiser in memory of her incredible brother, Christopher Whittaker, who sadly passed away in November 2023 at the age of 28 due to Duchenne Muscular Dystrophy (DMD). Having an evening of live music, a tombola, a raffle, and bingo she raised an amazing amount of £2,230. “Everyone who knew Christopher knows how truly amazing he was—from his early years right
- [Solid Biosciences Provide SGT-003 Gene Therapy Trial Updates](https://www.actionduchenne.org/solid-biosciences-provide-sgt-003-gene-therapy-trial-updates/) - In its January 2026 report, Solid Biosciences shared an update on SGT-003, our investigational next-generation gene therapy for Duchenne muscular dystrophy. We have provided a summary of the trial updates below, accompanied by Solid Biosciences community letter for further reading. INSPIRE DUCHENNE This is an ongoing phase 1/2 study designed to evaluate the safety and effectiveness
- [Sarepta Announces Topline Three-Year EMBARK Results: Long-Term Performance of ELEVIDYS Gene Therapy](https://www.actionduchenne.org/sarepta-announces-topline-three-year-embark-results-long-term-performance-of-elevidys-gene-therapy/) - Sarepta Therapeutics has released updated findings from its Phase 3 EMBARK study, providing a three-year assessment of the gene therapy ELEVIDYS (delandistrogene moxeparvovec-rokl). These results, announced on January 26, 2026, focus on the functional impact of the treatment in ambulatory patients with Duchenne muscular dystrophy. Breaking Down the Three-Year Results The study compared ambulatory individuals
- [Training Plans and Injury Prevention](https://www.actionduchenne.org/training-plans-and-injury-prevention/) - If you have signed up for an event and registered on the official race console, you will receive email communications from the event. This will include training plans. These are often really good quality plans. We have also searched the web for some of the best training plans. Training Plans 5k plans Couch to 5k I NHS 5k
- [Blue Monday Blog: Hear from Victoria, our Fundraising Officer and Duchenne Mum](https://www.actionduchenne.org/blue-monday-blog-hear-from-victoria-our-fundraising-officer-and-duchenne-mum/) - Written by Victoria Edwards, Action Duchenne's Fundraising Officer and mum to Dougie (who lives with Duchenne) and Allie. Feeling Blue "This Monday was Blue Monday, and wow… I really felt it. It was grey, drizzly, my son was up half the night and ended up off school from sheer tiredness. My daughter went in to
- [NICE Givinostat Appraisal Paused](https://www.actionduchenne.org/nice-givinostat-appraisal-paused/) - The Scottish Medicines Consortium (SMC) recently announcement of their approval of Givinostat for the treatment of Duchenne muscular dystrophy (DMD) for restricted use in ambulatory patients 6 years or older (SMC Article). We know many of you will be eager to hear of any updates regarding the National Institute for Health and Care Excellence (NICE)
- [Bone Health and Management Guidance Update](https://www.actionduchenne.org/bone-health-and-management-guidance-update/) - Dr Jarod Wong from the University of Glasgow together with a group of clinical experts from the UK, with support from Action Duchenne and Muscular Dystrophy UK developed the UK NorthStar network DMD-specific adult and transition bone health and management guidance. We are now delighted to announce the upcoming launch of three educational videos to
- ["Making contact with Action Duchenne provided a lifeline"](https://www.actionduchenne.org/making-contact-with-action-duchenne-provided-a-lifeline/) - "Making contact with Action Duchenne provided a lifeline": Find out why Ben Dolling decided to run the London Marathon dressed as a parrot! Harry was diagnosed with Duchenne muscular dystrophy in 2019 Ben and his wife have 3 children: a daughter in year 3 and a son in his first year of university and Harry,
- [Dyne Therapeutics Announces Positive Top-Line Results from DELIVER Trial](https://www.actionduchenne.org/dyne-therapeutics-announces-positive-top-line-results-from-deliver-trial/) - There is encouraging news for the Duchenne community as Dyne Therapeutics has announced positive top-line results from their ongoing DELIVER clinical trial. The data highlights significant progress for zeleciment rostudirsen (also known as z-rostudirsen or DYNE-251), an investigational treatment for individuals with Duchenne muscular dystrophy (DMD) amenable to exon 51 skipping. The announcement covers results
- [The Power of Shared Experience: "Honestly, it would’ve been a much harder road without having joined this group." ](https://www.actionduchenne.org/the-power-of-shared-experience-honestly-it-wouldve-been-a-much-harder-road-without-having-joined-this-group/) - Action Duchenne have monthly online meet-ups for Duchenne dads, mums and grandparents, facilitated by our Family Support Officers and designed to enable connection with those who truly understand. A Duchenne diagnosis can often set people apart from the support systems they usually rely on. Our support groups mean you can meet people who know exactly
- [Givinostat Accepted for Restricted Use Within NHS Scotland for the Treatment of Duchenne in Patients 6 Years and Older](https://www.actionduchenne.org/givinostat-accepted-for-restricted-use-within-nhs-scotland-for-the-treatment-of-duchenne-in-patients-6-years-and-older/) - A significant milestone for the Duchenne community in Scotland as a new treatment option due to become available on the NHS. We are delighted to share the positive news that the Scottish Medicines Consortium (SMC) has approved the medicine givinostat for use within NHS Scotland. This decision marks a vital step forward in ensuring families
- [Inclusion and Equity](https://www.actionduchenne.org/inclusion-and-equity/) - Inclusion and Equity This stream will run on Saturday 15th November and will explore practical approaches to accessibility and equal opportunities for all in education, PE and employment. Starting school: EHCP Maria Sherwood and Emma Simmonds from Treloar School and College will share their expertise on navigating the complex EHCP process, as well as working
- [Adapting to Change](https://www.actionduchenne.org/adapting-to-change/) - Adapting to Change This stream will run on Saturday 15th November and is designed to equip you with tool, resources and information to thrive in an ever-changing environment. Housing Adaptations: Where to begin? This session will focus on experts sharing practical tips, real experiences and housing adaptation resources to guide and support families. We are
- [Introducing Action Duchenne's new CEO: Katie Endacott](https://www.actionduchenne.org/introducing-action-duchennes-new-ceo-katie-endacott/) - We are delighted to introduce our new CEO, Katie Endacott and to share a statement from Vicky Pleydell, Chair of Trustees: "I am delighted to announce that following a comprehensive recruitment process, Katie Endacott has been appointed as the Chief Executive Officer of Action Duchenne, effective from the beginning of November. Since joining us as
- [Action Duchenne comment on statement from NorthStar Network UK about Givinostat](https://www.actionduchenne.org/action-duchenne-comment-on-statement-from-northstar-network-uk-about-givinostat/) - Action Duchenne comment on statement from NorthStar Network UK about Givinostat Firstly, and most importantly, our thoughts are with the families of the three boys who have sadly passed away. We know their loss is felt by each and every family across the Duchenne community. Following the NorthStar Network UK’s statement we are aware of three
- [Community Accessibility and Support](https://www.actionduchenne.org/community-accessibility-and-support/) - Community Accessibility and Support Our Community Accessibility and Support stream will run on Friday 14th November. It's designed to equip and empower you with the tools and knowledge to navigate daily life with Duchenne by learning from lived experience. Register Role of steroids in DMD and navigating the challenges Dr Sithara Ramdas, Consultant Paediatric Neurologist
- [DMD Care UK Nutrition Working Group - Online Focus Groups](https://www.actionduchenne.org/dmd-care-uk-nutrition-working-group-online-focus-groups/) - This month there will be an opportunity for everyone interested in learning more about nutrition and Duchenne to participate in two online focus group sessions. These sessions are the start of the sharing of key recommendations from the soon-to-be-finalised DMD Care UK guidance on nutrition in childhood, and for peer learning facilitated by members of
- [Guest Blog: Birthday Boy](https://www.actionduchenne.org/birthday-boy/) - By Jack Waddington We are pleased to feature a very special guest blog for World Duchenne Awareness Day 2025. This blog has been written by Jack Waddington. Jack's younger brother Sam lived with Duchenne after he passed away, Jack has written a memoir about growing up with him. In his own words, "it's about the
- [Impact of NRS Healthcare Closure: Statement from the Chair of Action Duchenne, Vicky Pleydell](https://www.actionduchenne.org/impact-of-nrs-healthcare-closure-statement-from-the-chair-of-action-duchenne-vicky-pleydell/) - Statement from the Chair of Action Duchenne: The Impact of the closure of NRS Healthcare for Duchenne families.
- [World Duchenne Awareness Day 2025](https://www.actionduchenne.org/world-duchenne-awareness-day-2025/) - Family: The Heart of Care September 7th marks World Duchenne Awareness Day. The 7th day of the 9th month in honour of the 79 exons on the dystrophin gene, World Duchenne Awareness Day raises awareness and inspires action to improve the lives of people living with Duchenne and Becker muscular dystrophy. The theme this year
- [Update from Roche regarding Delandistrogene Moxeparvovec (Elevidys)](https://www.actionduchenne.org/update-from-roche-regarding-delandistrogene-moxeparvovec-elevidys/) - On July 25th, Roche 5 the European Medicines Agency’s (EMA's) Committee for Human Medicinal Products (CHMP) unfortunately provided a negative opinion on the marketing authorisation for delandistrogene moxeparvovec (Elevidys) in Duchenne Muscular Dystrophy (DMD) patients aged 3-7 years. Roche plans to continue dialogue with EMA to explore the path forward. Please read the full press
- [MindJam - The Benefits and Possibilities of Gaming](https://www.actionduchenne.org/mindjam-the-benefits-and-possibilities-of-gaming/) - MindJam - The Benefits and Possibilities of Gaming MindJam provide emotional and SEN support for young people through gaming, game design and digital skills. They have also provided gaming activities for the HangOut at our conference for the last 2 years, as well as running game design sessions for young people as part of our
- [Roche to resume Elevidys orders for ambulatory patients outside of the US ](https://www.actionduchenne.org/roche-to-resume-elevidys-orders-for-ambulatory-patients-outside-of-the-us/) - On July 29th, Roche announced its readiness to immediately resume new orders and shipments of Elevidys for ambulatory patients outside the United States. This follows the FDA’s recommendation to lift the temporary pause on shipments for ambulatory individuals with Duchenne muscular dystrophy. Based on a comprehensive review of the available data, Roche maintains that the
- [Entrada Therapeutics Shares Update on Duchenne Muscular Dystrophy (DMD) Programs](https://www.actionduchenne.org/entrada-therapeutics-shares-update-on-duchenne-muscular-dystrophy-dmd-programs/) - Entrada Therapeutics has released its financial results for the second quarter of 2025, which included important updates on its clinical programs for Duchenne muscular dystrophy (DMD).Entrada have now began enrolling participants in the UK for their ELEVATE-44-201 and ELEVATE-45-201 studies, eligible to Duchenne muscular dystrophy (DMD) patients amenable to exon 44 and 45 skipping, respectively.The
- [Yes I Can Activity Day - Scotland](https://www.actionduchenne.org/yes-i-can-activity-day-scotland/) - Yes I Can Activity Day - Scotland Are you aged 12 and over, living with Duchenne and live in Scotland? Join Action Duchenne in Scotland this Summer for an accessible activity day at the National Sports Training Centre in Inverclyde. When: Tuesday 12th August 2025 Where: National Sports Training Centre, Inverclyde (Burnside Road, Largs, Ayrshire,
- [Join us this World Duchenne Awareness Day](https://www.actionduchenne.org/join-us-this-world-duchenne-awareness-day/) - This World Duchenne Awareness Day we’d love to know about the people who shape the heart of care for you and your family.
- [Guest Blog: Duchenne Parents Karen and Jamie Thompson share their experience of attending the Action Duchenne Annual International Conference](https://www.actionduchenne.org/guest-blog-duchenne-parents-karen-and-jamie-thompson-share-their-experience-of-attending-the-action-duchenne-annual-international-conference/) - Duchenne Parents Karen and Jamie Thompson share their experience of attending the Action Duchenne Annual International Conference
- [Roche Announces Temporary Pause to New Orders of Delandistrogene Moxeparvovec To Key Countries Outside the US.](https://www.actionduchenne.org/roche-announces-temporary-pause-to-new-orders-of-delandistrogene-moxeparvovec-to-key-countries-outside-the-us/) - Today (23rd of July), Roche issued a community update regarding its Duchenne program, specifically addressing the availability of delandistrogene moxeparvovec (Elevidys). This follows a recent directive from the U.S. Food and Drug Administration (FDA) requesting Sarepta to halt all shipments of this treatment within the United States. In alignment with the FDA’s request, Roche has
- [Edgewise Therapeutics Reports Positive Results on Sevasemten Program for Becker and Duchenne Muscular Dystrophies](https://www.actionduchenne.org/edgewise-therapeutics-reports-positive-results-on-sevasemten-program-for-becker-and-duchenne-muscular-dystrophies/) - Edgewise Therapeutics has shared positive results in its Sevasemten program for Becker and Duchenne muscular dystrophies. Highlights include:● New open-label data in Becker from the open-label MESA trial demonstrated sustained disease stabilization up to three years in participants, reinforcing prior clinical findings from the ARCH and CANYON trials.● Pivotal trial, GRAND CANYON, is ongoing and
- [The Heart of Care](https://www.actionduchenne.org/the-heart-of-care/) - The Heart of Care We have had some key reminders of what we are working towards as a charity over the last few weeks. Volunteer’s Week (2nd - 8th June) was a chance to thank all of the people who give up their time and expertise for Action Duchenne. From the team of trustees, those
- [Could you become a mentor for young people living with Duchenne?](https://www.actionduchenne.org/could-you-become-a-mentor-for-young-people-living-with-duchenne/) - Action Duchenne is looking for Mentors for young people living with Duchenne. We’d love to hear from you about the skills you have to share.
- [REGENXBIO reports new positive functional data from Phase I/II Affinity Duchenne Trial of RGX-202](https://www.actionduchenne.org/regenxbio-reports-new-positive-functional-data-from-phase-i-ii-affinity-duchenne-trial-of-rgx-202/) - REGENXBIO announced new positive interim data from the Phase I/II AFFINITY DUCHENNE trial. Updates include positive functional, safety and biomarker data for RGX-202, REGENXBIO's potential best-in-class, investigational gene therapy for Duchenne muscular dystrophy. The functional data demonstrate consistent benefit among dose level 2 participants at 9 and 12 months following treatment with RGX-202. Aravindhan Veerapandiyan,
- [Entrada Therapeutics Receives Authorisation for New DMD Clinical Trial in UK and Europe](https://www.actionduchenne.org/entrada-therapeutics-receives-authorisation-for-new-dmd-clinical-trial-in-uk-and-europe/) - Entrada Therapeutics, Inc., today announced a significant step forward in their Duchenne muscular dystrophy (DMD) clinical development programme. They have received authorisation from Health Authorities and Ethics Committees across multiple European Union countries, under the EU Clinical Trial Regulation (EU-CTR), to proceed with their ELEVATE-45-201 study. This new study will investigate a potential treatment for
- [PepGen Discontinues Development of PGN-EDO51 for Duchenne Muscular Dystrophy](https://www.actionduchenne.org/pepgen-discontinues-development-of-pgn-edo51-for-duchenne-muscular-dystrophy/) - We are sharing an important update with our community regarding PepGen Inc.'s investigational therapy, PGN-EDO51, for Duchenne muscular dystrophy (DMD). We have received news that PepGen has made the decision to end the development of the PGN-EDO51 programme. This means that the CONNECT2-EDO51 study, which was previously open for recruitment in the UK and proposed
- [Mental Health Awareness Week: Alex's Journal](https://www.actionduchenne.org/mental-health-awareness-week-alexs-journal-4/) - Written By Alex Berbank 15 Minutes a Day I've really enjoyed getting into the frame of mind to look at my mental health. Before this week I wasn't quite sure what to expect. My ideas of what looking at my own mental health would look like weren’t accurate. I thought there would be more softly
- [Mental Health Awareness Week: Alex's Journal](https://www.actionduchenne.org/mental-health-awareness-week-alexs-journal-3/) - Mental Health Awareness Week Journal, Written by Alex Berbank Watch Alex's Vlog for Mental Health Awareness Week Thursday's Update: Meditation and Mindfulness So, to this point this week has been great. I've actually taken to the focus on my mental health and self improvement thing quite well and I hope I’ll keep these new ideas
- [Mental Health Awareness Week - Alex's Blog](https://www.actionduchenne.org/mental-health-awareness-week-alexs-blog/) - Written by Alex Berbank Wednesday: Getting Into The Swing of Things The changes yesterday were about removing phones from certain times in the house, namely when eating, before bed and when me and my Fiancee are in the house together. The idea was that we would be more connected, talk more and just be a
- [Mental Health Awareness Week: Alex's Journal](https://www.actionduchenne.org/mental-health-awareness-week-alexs-journal-2/) - Day Two of Action Duchenne's Alex Berbank's daily journal as he shares his experiences and insights for Mental Health Awareness Week
- [An Action Duchenne Spring Update](https://www.actionduchenne.org/an-action-duchenne-spring-update/) - An Action Duchenne Spring Update As we head into May, welcoming warmer days and lighter evenings, it’s a time to reflect back over the first few months of 2025 as well as look ahead to the many exciting events still to come. Webinar Series 2025 A highlight of the year so far, The Action Duchenne
- [Mental Health Awareness Week: Alex's Journal](https://www.actionduchenne.org/mental-health-awareness-week-alexs-journal/) - Mental Health Awareness Week: Alex's Journal sharing his experiences and insights into mental health and community
- [Mental Health and Community - Duchenne Dads and Male Mental Health](https://www.actionduchenne.org/mental-health-and-community-duchenne-dads-and-male-mental-health/) - What does mental health really meant, and what are the challenges for Duchenne dads? How can we find strength in community
- [European Medicines Agency Issues Positive Opinion on Givinostat](https://www.actionduchenne.org/european-medicines-agency-issues-positive-opinion-on-givinostat/) - On the 25th of April, the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) gave Givinostat (Duvyzat) a positive opinion. The recommendation is for granting a conditional marketing authorisation for Givinostat for the treatment of ambulant patients with Duchenne muscular dystrophy (DMD) aged six years, and alongside concomitant corticosteroid
- [Expressing our gratitude to Pope Francis](https://www.actionduchenne.org/expressing-our-gratitude-to-pope-francis/) - Following the sad news of the death of Pope Francis on 21st April 2025, we want to express our gratitude for the ongoing support he offered the Duchenne community. In 2024, as he had done in previous years, Pope Francis endorsed World Duchenne Awareness Day with a public statement of support: “Dear brothers, On World
- [Coping with Diagnosis with David Schonfeld](https://www.actionduchenne.org/coping-with-diagnosis-with-david-schonfeld/) - March marked a special milestone at Action Duchenne as we kicked off our brand-new webinar series! Each month, we are diving deeper into the important themes related to Duchenne muscular dystrophy (DMD) care, and we could not have asked for a better start. We were incredibly fortunate to have the brilliant Professor. David Schonfeld joined
- [European Commission Confirms Decision Not to Renew the Market Authorisation for Translarna (Ataluren).](https://www.actionduchenne.org/european-commission-confirms-decision-not-to-renew-the-market-authorisation-for-translarna-ataluren/) - The European Commission (EC) has adopted the opinion of the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) to not renew the authorisation of Translarna (Ataluren). Translarna is used for treating ambulant patients with Duchenne muscular dystrophy aged 2 years and older who have a ‘nonsense mutation’ in the
- [Roche’s update on clinical hold in Duchenne muscular dystrophy](https://www.actionduchenne.org/roches-update-on-clinical-hold-in-duchenne-muscular-dystrophy/) - Roche’s update on clinical hold in Duchenne muscular dystrophy On the 18th March Sarepta announced the sad news regarding a young man with Duchenne muscular dystrophy who passed away following treatment with delandistrogene moxeparvovec, having suffered acute liver failure. There is still an ongoing assessment and analysis of information following this sad event. The European
- [Family Science Education Day](https://www.actionduchenne.org/family-science-education-day/) - Family Science Education Day On Saturday 22nd March, we welcomed some of our amazing families to our Family Science Education Day at the Think Tank Science Museum in Birmingham. After enjoying a light lunch together, the children and young people took part in a brilliant science workshop with Sublime Science. Parents and carers had a
- [Wave Life Science Announce Positive Data from FORWARD-53 Clinical Trial](https://www.actionduchenne.org/wave-life-science-announce-positive-data-from-forward-53-clinical-trial/) - Wave Life Sciences announced today positive data following 48 weeks of dosing in the FORWARD-53 clinical trial evaluating the investigational molecule WVE-N531 in boys with Duchenne muscular dystrophy (DMD) amenable to exon 53 skipping. This 48-week data set represents biopsy data for eight of the eleven boys (all ambulatory) who received a 10 mg/kg dosing
- [Dyne Therapeutics Announce New Long Terms Clinical Data from DELIVER Trial of DYNE 251](https://www.actionduchenne.org/dyne-therapeutics-announce-new-long-terms-clinical-data-from-deliver-trial-of-dyne-251/) - Promising Results at 18 months Show Sustained Functional Improvement
- [School Support - Alex's Blog](https://www.actionduchenne.org/school-support-alexs-blog/) - School Support - Alex's Blog Hear from Partnerships and Outreach Manager Alex Berbank about the support Action Duchenne can offer in schools. Spring is afoot and with the longer days the warmer weather comes the eventual promise of the long school holidays. I think for many families it’s a double edged sword. Time with our
- [Entrada Therapeutics Receives Authorization in the United Kingdom to Initiate ELEVATE-45-201](https://www.actionduchenne.org/entrada-therapeutics-receives-authorization-in-the-united-kingdom-to-initiate-elevate-45-201/) - Entrada Therapeutics Receives Authorization in the United Kingdom to Initiate ELEVATE-45-201, a Phase 1/2 Multiple Ascending Dose Clinical Study of ENTR-601-45 in People Living with Duchenne Muscular Dystrophy Amenable to Exon 45 Skipping Entrada has received authorization from the United Kingdom’s Medicines and Healthcare Products Regulatory Agency (MHRA) and Research Ethics Committee to initiate ELEVATE-45-201.
- [Capricor Therapeutics Reports Positive Long-Term Results for Deramiocel in Treating Duchenne Muscular Dystrophy](https://www.actionduchenne.org/capricor-therapeutics-reports-positive-long-term-results-for-deramiocel-in-treating-duchenne-muscular-dystrophy/) - This week Capricor Therapeutics announced positive long-term data from its' ongoing HOPE-2 open-label extension (OLE) clinical trial, highlighting the potential of its lead asset, deramiocel, to slow disease progression and preserve upper limb function in patients with Duchenne muscular dystrophy (DMD). In a study comparing patients treated with deramiocel to an external group, those who
- [DMD Care UK Webinar Recording](https://www.actionduchenne.org/dmd-care-uk-webinar-recording/) - DMD Care UK has also published a summary of available evidence on vamorolone, which can be downloaded here Full guidelines for families on all corticosteroid treatment in DMD (covering prednisolone, deflazacort and vamorolone) will be available from DMD Care UK in April. If you have any questions, or would feel you need support regarding the
- [Action Duchenne's Statement Regarding Sarepta’s Sad Announcement](https://www.actionduchenne.org/action-duchennes-statement-regarding-sareptas-sad-announcement/) - We are deeply saddened to learn of the passing of a young man who received ELEVIDYS gene therapy for Duchenne muscular dystrophy. Our hearts go out to his family during this incredibly difficult time. Tragically, the young man (aged 16) passed away after suffering acute liver failure. While acute liver injury is a recognised potential
- [PepGen Announces Update to Phase 2 CONNECT2-EDO51 Study in Patients with DMD](https://www.actionduchenne.org/pepgen-announces-update-to-phase-2-connect2-edo51-study-in-patients-with-dmd/) - PepGen's has released an update regarding the CONNECT clinical trials for PGN-EDO51 in Duchenne muscular dystrophy (DMD). PepGen has announced a voluntary decision to temporarily pause the Phase 2 CONNECT2-EDO51 study. What This Means PepGen received a hold notice by the FDA on their CONNECT1-EDO51 trial (operating in Canada), and have decided to voluntarily suspend
- [Roche Shares Top-line Results from Year Two of the EMBARK Phase 3 Clinical Trial.](https://www.actionduchenne.org/roche-shares-top-line-results-from-year-two-of-the-embark-phase-3-clinical-trial/) - Roche have provided an update on the latest top-line results from the second year of their EMBARK Phase 3 clinical trial (NCT05096221) investigating delandistrogene moxeparvovec for boys with Duchenne muscular dystrophy (DMD) aged 4-7. EMBARK Clinical Trial Results: The phase 3 EMBARK trial evaluated Elevidys in 125 ambulant boys aged 4-7 with DMD. Participants were
- [Calling all Siblings and Caregivers of Individuals with Duchenne](https://www.actionduchenne.org/calling-all-siblings-and-caregivers-of-individuals-with-duchenne/) - Help researchers and mental health professionals at the University of Newcastle better understand how Duchenne muscular dystrophy (DMD) impacts families, and be reimbursed for your time.
- [Vamorolone for Duchenne Muscular Dystrophy: A Summary of Evidence So Far](https://www.actionduchenne.org/vamorolone-for-duchenne-muscular-dystrophy-a-summary-of-evidence-so-far/) - DMD Care UK will host a webinar to summarise the evidence for vamorolone as a treatment for Duchenne muscular dystrophy (DMD), and provide an opportunity for families to ask questions to an expert panel. We hope you can join us for the event to share your experiences and questions with the panel. Date - Thursday
- [Open Letter from the Chair and CEO of Action Duchenne for Rare Disease Day 2025](https://www.actionduchenne.org/open-letter-from-the-chair-and-ceo-of-action-duchenne-for-rare-disease-day-2025/) - On Rare Disease Day 2025, we stand together to raise awareness, celebrate our community, and drive meaningful change for everyone affected by Duchenne
- [Solid Biosciences Shares 90 Day Update From SGT-003 Gene Therapy Trial](https://www.actionduchenne.org/solid-biosciences-shares-90-day-update-from-sgt-003-gene-therapy-trial/) - We're excited to share news that Solid Biosciences has released initial data from its Phase 1/2 INSPIRE DUCHENNE clinical trial, assessing the safety and efficacy of SGT-003 - a next-generation gene therapy candidate for Duchenne muscular dystrophy (DMD). Although these are early findings, the results suggest good movement in the development of potential future gene
- [Entrada Therapeutics Announces FDA Removal of Clinical Hold on ENTR-601-44](https://www.actionduchenne.org/entrada-therapeutics-announces-fda-removal-of-clinical-hold-on-entr-601-44/) - Entrada Therapeutics Announces FDA Removal of Clinical Hold on ENTR-601-44 Entrada Therapeutics, today announced that the United States Food and Drug Administration (FDA) has lifted the clinical hold on ENTR-601-44 and provided authorization to initiate ELEVATE-44-102, a Phase 1b multiple ascending dose (MAD) clinical study of ENTR-601-44 for the potential treatment of Duchenne muscular dystrophy
- [Spotlight on Dr David Schonfeld](https://www.actionduchenne.org/spotlight-on-dr-david-schonfeld/) - Spotlight on Dr David Schonfeld Dr. David Schonfeld is a distinguished pediatrician and child development expert withover three decades of experience supporting children through trauma, grief, andcrises. Renowned for his compassionate approach, he founded the National Centerfor School Crisis and Bereavement, empowering educators, healthcare professionals,and communities to address the emotional needs of youth during challenging
- [Family Science Education Day and Charity Dinner Dance](https://www.actionduchenne.org/family-science-education-day-and-charity-dinner-dance/) - Family Science Education Day and Charity Dinner Dance Join us for a Family Day at Birmingham's Think Tank Science Museum followed by a Charity Dinner Dance in Aid of Action Duchenne. We are thrilled to invite you to a unique and meaningful event in support of Action Duchenne. This special occasion brings together families, supporters, and the
- [Action Duchenne launches Webinar Series 2025](https://www.actionduchenne.org/action-duchenne-launches-webinar-series-2025/) - Action Duchenne launches the Webinar Series 2025. Together we can navigate the complex environment that a Duchenne diagnosis brings
- [Action Duchenne Expands All-Through Support into Scotland](https://www.actionduchenne.org/action-duchenne-expands-all-through-support-into-scotland/) - Action Duchenne Expands All-Through Support into Scotland PRESS RELEASE FOR IMMEDIATE RELEASE: Action Duchenne to deliver vital support to Scottish families impacted by Duchenne Muscular Dystrophy thanks to the National Lottery Community Fund Scotland. Action Duchenne is delighted to announce that we have received funding from the National Lottery Community Fund Scotland for 3 years
- [SMC Recommends Vamorolone for Treating DMD in Scotland](https://www.actionduchenne.org/smc-recommends-vamorolone-for-treating-dmd-in-scotland/) - Action Duchenne welcomes the exciting news from the Scottish Medicines Consortium’s (SMC) positive recommendation for vamorolone for the treatment of Duchenne muscular dystrophy (DMD) for patients aged 4 years and older in Scotland. This decision follows the National Institute for Health and Care Excellence (NICE) recommendation for vamorolone in England and Wales in late 2024.
- [MHRA approves Givinostat as a treatment for Duchenne muscular dystrophy](https://www.actionduchenne.org/mhra-approves-givinostat-as-a-treatment-for-duchenne-muscular-dystrophy/) - Action Duchenne is pleased to share great news with the Duchenne community. Givinostat has been approved by the Medicines and Healthcare products Regulatory Agency (MHRA) for the treatment of Duchenne muscular dystrophy (DMD). The MHRA confirm full approval for patients, 6 years and older, that start treatment when ambulatory, and issue a conditional approval for
- [Merry Christmas and Happy New Year from Action Duchenne](https://www.actionduchenne.org/merry-christmas-and-happy-new-year-from-action-duchenne/)
- [Reflections and Hope](https://www.actionduchenne.org/reflections-and-hope/) - Reflections and Hope from 2024 alongside our vision of an inclusive, supportive, and empowered community for everyone living with Duchenne
- [Action Duchenne Selected for 'Season of Soul' Initiative by Jaguar Land Rover Solihull](https://www.actionduchenne.org/action-duchenne-selected-for-season-of-soul-initiative-by-jaguar-land-rover-solihull/) - Action Duchenne is deeply honoured to be chosen as one of the charities for JLR Solihull’s ‘Season of Soul’ initiative. Ian Taylor, a Duchenne dad and JLR employee, nominated Action Duchenne and shared with the JLR team the challenges that families living with Duchenne muscular dystrophy face, as well as the impactful work of Action
- [Winter Wishes](https://www.actionduchenne.org/winter-wishes/) - Action Duchenne were thrilled to be able offer 8 families the opportunity to visit the Winter Wishes event at the Hyde Park Winter Wonderland.
- [Edgewise Therapeutics Announces Positive Results from the CANYON Phase 2 Trial of Sevasemten in Individuals with Becker Muscular Dystrophy ](https://www.actionduchenne.org/edgewise-therapeutics-announces-positive-results-from-the-canyon-phase-2-trial-of-sevasemten-in-individuals-with-becker-muscular-dystrophy/) - Edgewise Therapeutics, announced positive topline results from the Phase 2 CANYON trial of sevasemten in individuals with Becker muscular dystrophy. Sevasemten, an orally administered first-in-class fast skeletal myosin inhibitor, aims to protect muscle against contraction-induced damage. The CANYON trial, the largest interventional trial to date in Becker muscular dystrophy, met its primary endpoint of reducing
- [NICE Recommends Vamorolone for Treating DMD in England](https://www.actionduchenne.org/nice-recommends-vamorolone-for-treating-dmd-in-england/) - Action Duchenne is excited to share the news that the National Institute for Health and Care Excellence (NICE) has issued final draft guidance recommending vamorolone for the treatment of Duchenne muscular dystrophy (DMD). This positive decision offers a step forward in the management of DMD, expanding the range of treatment options available to patients and
- [REGENXBIO Announces Pivotal Phase of AFFINITY DUCHENNE Clinical Trial for RGX-202 ](https://www.actionduchenne.org/regenxbio-announces-pivotal-phase-of-affinity-duchenne-clinical-trial-for-rgx-202/) - REGENXBIO, a leading clinical-stage biotechnology company focused on advancing transformative gene therapies, announced in late November that the pivotal phase of the AFFINITY DUCHENNE® study of RGX-202, an investigational gene therapy for the treatment of Duchenne muscular dystrophy (DMD), has commenced. The AFFINITY DUCHENNE® Initial trial sites are currently located in the U.S., with additional
- [Empowering lives on International Day of Persons with Disabilities](https://www.actionduchenne.org/empowering-lives-on-international-day-of-persons-with-disabilities/) - Action Duchenne is Marking International Day of Persons with Disabilities by sharing significant milestones in our ‘All-through Support Programme
- [Educating, Connecting, Wellbeing at the Action Duchenne Annual International Conference 2024](https://www.actionduchenne.org/educating-connecting-wellbeing-at-the-action-duchenne-annual-international-conference-2024/) - Educating, Connecting, Wellbeing. Highlights from an unforgettable 2 days at the Annual Action Duchenne International Conference 2024
- [Givinostat Early Access Programme Launches for Duchenne Muscular Dystrophy Patients](https://www.actionduchenne.org/givinostat-early-access-programme-launches-for-duchenne-muscular-dystrophy-patients/) - Summary We are excited to announce that Givinostat, a new HDAC (histone deacetylase) inhibitor treatment currently under regulatory review, is now available to eligible Duchenne patients via the UK’s Early Access Programme (EAP), sometimes termed as Expanded Access Programme. Although the treatment has yet to achieve regulatory approval in the UK and EU, ITF Pharma
- [Winter Webinar - NICE & Drug Approval](https://www.actionduchenne.org/winter-webinar-nice-drug-approval/) - To kick start out Winter Webinars we will be joined by the National Institute for Health and Care Excellence (NICE) who will explain their role in the drug approval process. They will give a 20 minute talk and then open up the floor for your questions. Register
- [Action Duchenne Annual International Conference 2024: Welcome Remarks](https://www.actionduchenne.org/action-duchenne-annual-international-conference-2024-welcome-remarks/) - Action Duchenne's CEO Florence Boulton opens our 2024 International Conference, joined by Ravi Mehta and Vhair of Trustees Gary Fegan
- [Sarepta Announces the Discontinuation of MOMENTUM Study and Development of SRP-5051](https://www.actionduchenne.org/sarepta-announces-the-discontinuation-of-momentum-study-and-development-of-srp-5051/) - We are disappointed to learn of the news regarding Sarepta’s SRP-5051 MOMENTUM study. Sarepta has decided to stop developing SRP-5051, a potential treatment for Duchenne muscular dystrophy (DMD). This means the MOMENTUM study, which was testing SRP-5051, an exon-51 skipping treatment, has ended. The goal with SRP-5051 was to provide a safe and effective treatment
- [Charity Dinner Dance](https://www.actionduchenne.org/charity-dinner-dance-2/) - Charity Dinner Dance In March 2023, Ruth Taylor and her amazing committee members held an incredible Charity Dinner Dance to fundraise for Action Duchenne following the diagnosis of Ruth and Ian's son Max. The event was such a success that they are doing a second one on 22nd March 2025 and would love for Duchenne
- [Annual General Meeting: Friday 8th November 2024](https://www.actionduchenne.org/annual-general-meeting-friday-8th-november-2024/) - Annual General Meeting 2024 The Trustees of Action Duchenne would like to express their gratitude for the continued support from the Duchenne community and extend an invite to attend our Annual General Meeting which will be held on on Friday 8 November 2024 at 17.15-18:30 GMT, Leonardo Hotel Hinckley Island,Leicestershire, LE10 3JA Only Action Duchenne
- [Help Develop Nutrition Information Resources for Duchenne Muscular Dystrophy](https://www.actionduchenne.org/help-develop-nutrition-information-resources-for-duchenne-muscular-dystrophy/) - If you are a caregiver of/or a young person aged 7-25 with Duchenne, researchers from the University of Glasgow, and Edge Hill University, need your help to develop better nutrition resources for DMD. ⬇️ There are different ways you can join in and share your views! 💬 https://www.surveymonkey.com/r/TheNutritionStudy
- [Wave Life Sciences Announces Positive Interim Data from FORWARD-53 Clinical Trial Evaluating WVE-N531 in Boys with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping](https://www.actionduchenne.org/wave-life-sciences-announces-positive-interim-data-from-forward-53-clinical-trial-evaluating-wve-n531-in-boys-with-duchenne-muscular-dystrophy-amenable-to-exon-53-skipping/) - Wave Life Sciences has shared their promising new interim results for the ongoing FORWARD-53 trial. The ongoing open-label trial, involves eleven boys amenable to exon 53 skipping (age 5-11; 10 ambulatory and 1 non-ambulatory). The study is designed to administer 10 mg/kg infusions of WVE-N531, with muscle biopsies being taken after 24 and 48 weeks
- [Swissmedic Announces Acceptance of Santhera's Market Authorisation Application for AGAMREE (Vamorolone) in Duchenne Muscular Dystrophy](https://www.actionduchenne.org/swissmedic-announces-acceptance-of-santheras-market-authorisation-application-for-agamree-vamorolone-in-duchenne-muscular-dystrophy/) - Santhera Pharmaceuticals (SIX: SANN) has announced that Swissmedic, the Swiss Agency for Therapeutic Products, has begun reviewing the marketing authorisation application (MAA) for AGAMREE® (Vamorolone) as a potential treatment for Duchenne muscular dystrophy (DMD). Santhera has submitted the AGAMREE® marketing authorisation application (MAA) to Swissmedic under Article 13 of the Swiss Therapeutics Products Act (TPA).
- [Welcoming Autumn 2024](https://www.actionduchenne.org/welcoming-autumn-2024/) - As we transition from the warmth of summer to the crisp embrace of autumn, it’s a moment to reflect on our progress and the importance of community support. A Personal Reflection This August marked the first anniversary of my sister’s passing. It was an emotional time for me, and I have felt her love and
- [Action Duchenne: Delivering Hope & Change in 2024](https://www.actionduchenne.org/action-duchenne-delivering-hope-change-in-2024/) - We are pleased to share our Impact 2024 report, which highlights our progress and achievements over the past year. It showcase the hard work and dedication of everyone involved, and the positive difference we are making in the community we serve. Thank you for your continued support. We look forward to building on this success
- [Together for World Duchenne Awareness Day: Celebrating Strength and Progress](https://www.actionduchenne.org/together-for-world-duchenne-awareness-day-celebrating-strength-and-progress/) - Together for World Duchenne Awareness Day: Celebrating Strength and Progress
- [Help Improve Understanding of Nutrition and Weight Management in DMD](https://www.actionduchenne.org/help-improve-understanding-of-nutrition-and-weight-management-in-dmd/) - Do you have 15 minutes and want to help improve our scientific understanding of the influence of nutrition and weight management in Duchenne muscular dystrophy? This is your chance to get involved and share your experience with researchers at the University of Glasgow and help contribute to better nutritional resources and guidelines for families and
- [The Action Duchenne Conference was a game-changer for me as a new Duchenne dad.](https://www.actionduchenne.org/the-action-duchenne-conference-was-a-game-changer-for-me-as-a-new-duchenne-dad/) - The Action Duchenne Conference serves as a vital platform for families to be equipped with practical knowledge, a network of support, and a sense of community.
- [Clinical Trial Update - PepGen Announces Positive Data from Ongoing CONNECT1-EDO51 Phase 2 Trial for Treatment of Duchenne Muscular Dystrophy](https://www.actionduchenne.org/clinical-trial-update-pepgen-announces-positive-data-from-ongoing-connect1-edo51-phase-2-trial-for-treatment-of-duchenne-muscular-dystrophy/) - PepGen Inc., announced on July 30th 2024, positive clinical data from the first dose cohort (5 mg/kg) of PGN-EDO51, its lead investigational candidate for patients with Duchenne muscular dystrophy (DMD) whose mutations are amenable to an exon 51-skipping approach. In the ongoing CONNECT1-EDO51 Phase 2 open-label trial, PGN-EDO51 demonstrated higher levels of exon skipping than
- [Clinical Trial Update - RegenxBio Announces New Positive Data From Affinity Duchenne Trial of RGX-202](https://www.actionduchenne.org/clinical-trial-update-regenxbio-announces-new-positive-data-from-affinity-duchenne-trial-of-rgx-202/) - On the 1st of August, RiogenxBio provided a positive update on the interim safety and efficacy data collected from their Phase I/II AFFINITY DUCHENNE trial of RGX-202 in patients with Duchenne muscular dystrophy aged between 1-11 years old. In patients aged 5.8 and 8.5 who received RGX-202 at dose level 2, RGX-202 microdystrophin expression was
- [Important Update on Pfizer’s CIFFREO Phase 3 Clinical Trial for DMD Gene Therapy](https://www.actionduchenne.org/important-update-on-pfizers-ciffreo-phase-3-clinical-trial-for-dmd-gene-therapy/) - In June, Pifzer announced that their CIFFREO Phase 3 clinical trial for Duchenne muscular dystrophy (DMD) gene therapy did not meet its primary and secondary objectives. We now regret to inform you that the trial has been cancelled. The CIFFREO Phase 3 clinical trial was a global study designed to test the safety and effectiveness
- [Welcoming Summer](https://www.actionduchenne.org/welcoming-summer/) - Welcoming Summer It feels as though we have waited a while for warmer days this year and it is hard to believe that we are already over half way through 2024, and that the school year is coming to an end! As I write, I am aware of the additional challenge that long school holidays
- [CEO's Message: Welcoming New Trustees and Farewell to Victoria Penrice](https://www.actionduchenne.org/ceos-message-welcoming-new-trustees-and-farewell-to-victoria-penrice/) - Welcoming new three trustees with a wealth of experience to share to the Action Duchenne team and saying farewell to Victoria Penrice
- [Submit Your Questions to be Answered by Pharmaceutical Companies](https://www.actionduchenne.org/submit-your-questions-to-be-answered-by-pharmaceutical-companies/) - Book Your Tickets APBI Code of Practice
- [Yes I Can In-Person Meet-Up at Think Tank, Birmingham](https://www.actionduchenne.org/yes-i-can-in-person-meet-up-at-think-tank-birmingham/) - Yes I Can In-Person Meet-Up at Think Tank, Birmingham We are planning an in-person meet-up at Think Tank, the Science Museum in Birmingham. As well as a chance to look around this brilliant interactive museum, we will also have a room that we can use as a group. We will cover tickets and refreshments, so all
- [The Committee for Medicinal Products for Human Use (CHMP) Issues Negative Opinion on Translarna™ Following European Commission Request for Review](https://www.actionduchenne.org/the-committee-for-medicinal-products-for-human-use-chmp-issues-negative-opinion-on-translarna-following-european-commission-request-for-review/) - PTC Therapeutics has announced that the European Medicine Agency (EMA) Committee for Medicinal Products for Human Use (CHMP) issued a negative recommendation on June 28th regarding renewing Translarna's marketing authorization for treating patients with Duchenne muscular dystrophy caused by a nonsense mutation. This follows the European Commission's (EC) request in May for a fresh review,
- [Turning Point Families Day at Thomley](https://www.actionduchenne.org/turning-point-families-day-at-thomley/) - Turning Point Families Day at Thomley On Saturday 22nd June Dougie and I met up with other families at Thomley for the TurningPoint families day. Thomley is a place for people of all abilities and disabilities, and my son has been goingthere for many years. We love how he can access play equipment and spend
- [A day to remember for Duchenne families with Alder Hey Children's Hospital](https://www.actionduchenne.org/a-day-to-remember-for-duchenne-families-with-alder-hey-childrens-hospital/) - On Thursday May 30th, we supported Alder Hey Children's Hospital hosting a special event for families affected by Duchenne muscular dystrophy (DMD).
- [Entrada Therapeutics Reports Positive Preliminary Data in Healthy Volunteers from Phase 1 ENTR-601-44-101 Trial for Duchenne Muscular Dystrophy](https://www.actionduchenne.org/entrada-therapeutics-reports-positive-preliminary-data-in-healthy-volunteers-from-phase-1-entr-601-44-101-trial-for-duchenne-muscular-dystrophy/) - Entrada Therapeutics, a company developing treatments for rare diseases, reports encouraging preliminary data from a Phase 1 clinical trial (ENTR-601-44-101) of their drug ENTR-601-44 for Duchenne muscular dystrophy (DMD). Their data will be presented at the 29th Annual conference of the World Muscle Society in Prague, Czechia in October 2024. ENTR-601-44 is an investigational therapy
- [Action Duchenne's Science on Tour Team visit Ashford School](https://www.actionduchenne.org/our-science-on-tour-team-visit-ashford-school/) - Action Duchenne's Science on Tour Team visit Ashford School in Oxford to help children think about disabilities and how they can help support their peers.
- [Make a Difference - Join Our Charity Running Events!](https://www.actionduchenne.org/make-a-difference-join-our-charity-running-events/) - Are your employees ready to lace up their running shoes and support a great cause? 🌟 We invite your team to join us at one of our upcoming charity running events and help us make a lasting impact in the lives of those living with Duchenne muscular dystrophy. We still have places in the following
- [Summer Webinar Recording - Andrea Weldon](https://www.actionduchenne.org/summer-webinar-andrea-weldon/) - Summer Webinar Recording- Andrea Weldon How to talk to your child about body image and self esteem "When my son turned 10 I noticed he was becoming very self conscious about his body, and noticing how he looked different to his friends. He was asking a lot of questions, and saying some quite negative things
- [Fundraising Story - The Glasgow Kiltwalk for Action Duchenne](https://www.actionduchenne.org/fundraising-story-the-glasgow-kiltwalk-for-action-duchenne/) - Sarah Kelly took part in the Glasgow Kiltwalk to raise money for Action Duchenne in her brother's name. Be inspired by her amazing journey.
- [Do you live in Scotland or Wales? Join our Focus Groups to tell us what support YOU need!](https://www.actionduchenne.org/do-you-live-in-scotland-or-wales-join-our-focus-groups-to-tell-us-what-support-you-need/) - Do you live in Scotland or Wales? Join our Focus Groups to tell us what support YOU need! Improving the lives of everyone that lives with DMD is at the core of our work at Action Duchenne. Since the pandemic our All-Through Support programme has changed lives and delivered real benefits to the individuals, the
- [Sarepta Therapeutics Announces Positive Update on ELEVIDYS (delandistrogene moxeparvovec-rokl) Regulatory Progress for Duchenne Muscular Dystrophy (DMD)](https://www.actionduchenne.org/sarepta-therapeutics-announces-positive-update-on-elevidys-delandistrogene-moxeparvovec-rokl-regulatory-progress-for-duchenne-muscular-dystrophy-dmd/) - Sarepta Therapeutics, Inc. today provided an update on the regulatory progress of ELEVIDYS (delandistrogene moxeparvovec-rokl), its gene therapy for DMD. FDA Approves Expanded Label for ELEVIDYS The U.S. Food and Drug Administration (FDA) has approved an expansion of the labelled indication for ELEVIDYS to include patients aged 4 and above who have a confirmed mutation
- [Science on Tour 2024 - Oxford](https://www.actionduchenne.org/science-on-tour-2024-oxford/) - On Tuesday the 11th of June, the team at Action Duchenne launched the first in our series of Science on Tour for 2024, kicking off our tour at the West Oxford Community Centre in Oxford. It was absolutely fantastic to meet members of our community in Oxford to share experiences and learn more about Duchenne
- [Start your Summer as an AD Champion at the Parellel Windsor Festival of Inclusivity](https://www.actionduchenne.org/start-your-summer-as-an-ad-champion-at-the-parellel-windsor-festival-of-inclusivity/) - Join staff, trustees, young people living with Duchenne and their families to take part in a truly inclusive, accessible and family friendly event.
- [Dyne Therapeutics Announces New Clinical Data from ACHIEVE Trial of DYNE-101 in DM1 and DELIVER Trial of DYNE-251 in DMD](https://www.actionduchenne.org/dyne-therapeutics-announces-new-clinical-data-from-achieve-trial-of-dyne-101-in-dm1-and-deliver-trial-of-dyne-251-in-dmd/) - Research Update - Dyne Therapeutics Announce New Clinical Data from trial for those with Duchenne muscular dystrophy amenable to an exon 51 skipping.
- [Carrying Duchenne - A sisters view](https://www.actionduchenne.org/carrying-duchenne-a-sisters-view/) - By Sarah Kelly Medical conditions can be isolating for a family, particularly rare ones. Our lives changed when my little brother Jonathan was diagnosed with Duchenne Muscular Dystrophy (DMD) aged 2. Whilst my family knew of Muscular Dystrophy, we had never heard of DMD. I think this was really isolating as there wasn’t a lot
- [SOT OXFORD](https://www.actionduchenne.org/sot-oxford/) - SOT OXFORD Book your FREE place on our Oxford Science workshop on 11th June, running from 10.30am- 3:00pm. REGISTER
- [Science on Tour 2024 - Register your Interest](https://www.actionduchenne.org/science-on-tour-2024-register-your-interest/) - Behind the scenes at Action Duchenne, our Science Communication team have been working hard to put together 2024 Science on Tour Programme. The workshops are FREE to attend and offer unbiased information in an easy-to-understand way which is accessible to everyone. It is also a great way to meet with the Action Duchenne team who
- [Come together with the Duchenne community at Action Duchenne's Annual International Conference 2024](https://www.actionduchenne.org/come-together-with-the-duchenne-community-at-action-duchennes-annual-international-conference-2024/) - Come together with the Duchenne community at Action Duchenne's Annual International Conference 2024 Friday 8th & Saturday 9th November 2024, Leonardo Hotel Hinckley Island, LE10 3JA CEO Florence Boulton invites you to join us: I am delighted to announce that tickets are now available for our 22nd Annual International Conference, taking place on 8th and
- [Calling everyone from Scotland and Wales - Tell us what YOU think!](https://www.actionduchenne.org/calling-everyone-from-scotland-and-wales-tell-us-what-you-think/) - Tell us what YOU think We are contacting all of our families, clinicians, schools and care professionals across Scotland and Wales as we try to gather as much information as possible about the support that is currently available for those living with Duchenne and their families. We hope to use this information to improve services
- [Givinostat & Epigenetics - An Overview](https://www.actionduchenne.org/givinostat-epigenetics-an-overview/) - This week we saw the NICE scoping consultation take place for a potential new treatment for Duchenne muscular dystrophy, Givinostat. We want to provide our community with as much information about all potential treatments. The attached review will provide you with an overview of what epigenetic treatments like Givinostat are, and how they work. Givinostat-Epigenetics-An-Overview_NewDownload
- [MHRA Translarna Survey](https://www.actionduchenne.org/mhra-translarna-survey/) - Introduction In 2014, the European Medicines Agency (EMA), granted a ‘Conditional Marketing Authorisation’ to Translarna for the treatment of patients with Duchenne muscular dystrophy caused by a nonsense mutation who are aged two years and older and ambulatory (able to walk). The UK was still in the European Union (EU) and part of the EMA
- [Spring Webinar : BIND Study](https://www.actionduchenne.org/spring-webinar-bind-study/) - The BIND project: Learning and behaviour challenges in Duchenne and Becker Muscular Dystrophies Join us on Wednesday 29th May at 5:30 pm for the next in our series of webinars. Would you like to know more about the way that Duchenne impacts learning and behaviour? Our next webinar will be on Wednesday 29th May at
- [PTC Therapeutics Announces European Commission Returns Translarna™ Opinion to CHMP For Re-evaluation](https://www.actionduchenne.org/ptc-therapeutics-announces-european-commission-returns-translarna-opinion-to-chmp-for-re-evaluation/) - PTC Therapeutics has announced today that the European Commission (EC) has decided not to adopt the European Medicine Agency (EMA) Committee for Medicinal Products for Human Use (CHMP) negative opinion of January 24, 2024 on the annual renewal of the conditional marketing authorisation of Translarna™ (ataluren). Instead the EC has returned the opinion to the CHMP for re-evaluation. As
- [Links and Resources](https://www.actionduchenne.org/links-and-resources/) - Here are some links to other charities and organisations who have been part of Yes I Can sessions, or that you might find useful. Pathfinders Neuromuscular Alliance The Money Charity Aerobility Young Minds MindJam The Calvert Trust
- [Sunshine and Support](https://www.actionduchenne.org/sunshine-and-support/) - As the sunshine begins to make a welcome appearance, I hope you have all had a wonderful May bank holiday and are looking forward to time together with family and friends over the coming Summer. It has been over two years since we launched National Lottery backed ‘All-through Support’ pilot programme, a much-needed project focuses
- [Spring Webinar - Dr Vasantha Gowda 'DMD and Emergencies'](https://www.actionduchenne.org/spring-webinar-dr-vasantha-gowda-dmd-and-emergencies/) - Join us on Saturday 11th May at 5pm for the next in our series of webinars. Dr Vasantha Gowda, consultant in paediatric neurology and neuromuscular disorders at Evelina Hospital will be taking us through emergency care for people living with Duchenne. Find out what you need to look out for, what to do if an
- [Spring Webinar - Annemieke Aarstma-Rus](https://www.actionduchenne.org/spring-webinar-annemieke-aarstma-rus/) - Spring Webinar - Annemieke Aarstma-Rus Preclinical research for Duchenne muscular dystrophy: How does it work and why does it take so long?
- [Annemeike Aartsma-Rus Webinar Recording](https://www.actionduchenne.org/annemeike-aartsma-rus-webinar-recording/) - For anyone who missed the brilliant webinar hosted by Professor Annemeike Aartsma-Rus from 13th April 2024, this is the recording of her session. She discusses preclinical research for Duchenne, looking at how it works and why does takes so long.
- [Take part in a trial programme about behavioural and emotional difficulties](https://www.actionduchenne.org/take-part-in-a-trial-programme-about-behavioural-and-emotional-difficulties/) - Andria Papageorgiou, postgraduate research student at The University of Surrey, is inviting you to take part in a 6 week programme for parents/carers of boys with DMD who experience behavioural and/or emotional difficulties! If you are interested and want to know more on how to get involved, please contact Andria!(a.papageorgiou@surrey.ac.uk) Recruitment-poster-Phase-2_v0.2-26Mar24-2Download
- [Introducing our Newest Trustee: Emma Simmonds](https://www.actionduchenne.org/inroducing-our-newst-trustee-emma-simmonds/) - Introducing Our Newest Trustee: Emma Simmonds “On behalf of the Board of Trustees at Action Duchenne, I extend a warm welcometo Emma as our newest trustee. In joining our board, Emma will have an importantrole in steering our charity's growth, ensuring transparency and accountability, andupholding our core values. Emma has been a familiar face at
- [Join our NEW Online Support Groups](https://www.actionduchenne.org/join-our-new-online-support-groups/) - We decided our regular online support groups needed a bit of a re-think. To make sure we’ve got everyone covered, there are now going to be 4 different groups which will each take place once a month. Dads Against Duchenne: 1st Monday of every month, 8-9pm Our DAD’s group has been the inspiration behind the
- [Thank you for attending our AGM](https://www.actionduchenne.org/thank-you-for-attending-our-agm/) - Thank you for attending our AGM Action Duchenne held our AGM on 19th March 2024 and would like to thank all of our staff members, trustees and members who attended. AGM-2024-presentation-.pptxDownload
- [Navigating the ups and downs together](https://www.actionduchenne.org/navigating-the-ups-and-downs-together/) - Navigating the ups and downs together I am writing to you just following the news that NICE have published their decision not to recommend Vamorolone for Duchenne, a steroid alternative, for the treatment of Duchenne muscular dystrophy. Vamorolone, also known by the brand name Agamree, was approved by the Medicines and Healthcare products Regulatory Agency
- [NICE Publishes Draft Guidance on Vamorolone for the Treatment of Duchenne Muscular Dystrophy](https://www.actionduchenne.org/nice-publishes-draft-guidance-on-vamorolone-for-the-treatment-of-duchenne-muscular-dystrophy/) - We stand with the Duchenne community in expressing our disappointment regarding the National Institute for Health and Care Excellence's (NICE) recent draft guidance on vamorolone. This guidance provisionally rejects the proposed corticosteroid alternative for treating Duchenne muscular dystrophy in patients aged four and above, within the scope of its marketing authorisation. The NICE evaluation committee
- [FDA Approves Givinostat for the Treatment of Duchenne Muscular Dystrophy in the USA](https://www.actionduchenne.org/fda-approves-givinostat-for-the-treatment-of-duchenne-muscular-dystrophy-in-the-usa/) - Further to our previous article on the publication of the phase 3 EPIDYS trial positive results for Givinostat, a histone deacetylase (HDAC) inhibitor drug that works by targeting pathogenic processes to reduce inflammation and loss of muscle; we are excited to share the news that as a result of these published findings, the United States
- [Results from Italfarmaco Pivotal Phase 3 EPIDYS Study of Givinostat in Duchenne Muscular Dystrophy (DMD) Published in The Lancet Neurology](https://www.actionduchenne.org/results-from-italfarmaco-pivotal-phase-3-epidys-study-of-givinostat-in-duchenne-muscular-dystrophy-dmd-published-in-the-lancet-neurology/) - We are thrilled to announce exciting new developments regarding the investigational drug Givinostat, after Italfarmaco S.p.A. announced today that the full results from the Company’s pivotal phase 3 EPIDYS clinical trial with givinostat in ambulant boys 6 years of age and older with Duchenne muscular dystrophy (DMD) have been published. The full manuscript, titled, “Safety
- [Taking Control](https://www.actionduchenne.org/taking-control/) - Taking Control Action Duchenne's Transition Projects for young people living with Duchenne. Yes I Can “Our Yes I Can transition project has had a transformative impact on the young people who attend. We have seen people's self-esteem, Independence and confidence greatly improve due to our exciting activity-led residential weekend away, learning new skills, and receiving
- [PepGen Receives UK CTA Clearance from MHRA to Begin CONNECT2-EDO51 Phase 2 Clinical Trial](https://www.actionduchenne.org/pepgen-receives-uk-cta-clearance-from-mhra-to-begin-connect2-edo51-phase-2-clinical-trial/) - PepGen, a biotech company developing innovative oligonucleotide therapies for severe neuromuscular and neurological diseases, has received approval from the UK regulator (MHRA) to launch the Phase 2 CONNECT2-EDO51 trial. This trial will evaluate PGN-EDO51, a potential treatment for Duchenne muscular dystrophy (DMD) patients who can benefit from exon 51 skipping. “We are excited to take
- [Hope and Determination on Rare Disease Day 2024](https://www.actionduchenne.org/hope-and-determination-on-rare-disease-day-2024/) - Hope and Determination on Rare Disease Day 2024 Today, 29th February 2024, marks Rare Disease Day. At Action Duchenne, we join with the global rare disease community to shine a light on the 300 million people across the world living with rare diseases and their families. Duchenne muscular dystrophy is one of the 70% of
- [PTC Community Statement on Translarna (Ataluren) Market Authorisation in the European Union and Great Britain ](https://www.actionduchenne.org/ptc-community-statement-on-translarna-ataluren-market-authorisation-in-the-european-union-and-great-britain/) - PTC has provided a community statement regarding the recently decision by the CHMP/EMA to not renew the marketing authorisation for Translarna (ataluren), and what this means for availability of the treatment in Great Britain: Licensed Indication Translarna is indicated for the treatment of Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene,
- [Annual General Meeting 2024](https://www.actionduchenne.org/annual-general-meeting-2024/) - Annual General Meeting 2024 The Trustees of Action Duchenne would like to express their gratitude for the continued support from the Duchenne community and extend an invite to attend our Annual General Meeting which will be held on Tuesday 19th March 2024 at 17:30-19:00 GMT at Barnsbury Community Centre, 12 Jays St, Barnsbury Estate, London
- [](https://www.actionduchenne.org/15564-2/) - Winter Webinar - James Poysky As part of our Science Education programme, we are running a series of Winter Webinars with some of your favourite Duchenne experts! We are delighted to announce that we will be welcoming renowned psychologist and Duchenne expert Dr James Poysky to our webinar series. This webinar will take place on
- [Sarepta Therapeutics Announces U.S. FDA Acceptance of an Efficacy Supplement to Expand the ELEVIDYS Indication](https://www.actionduchenne.org/sarepta-therapeutics-announces-u-s-fda-acceptance-of-an-efficacy-supplement-to-expand-the-elevidys-indication/) - Sarepta Therapeutics, Inc, today announced the U.S. Food and Drug Administration (FDA) has accepted and filed the company's ‘Efficacy Supplement’ to the Biologics License Application (BLA) for ELEVIDYS (delandistrogene moxeparvovec-rokl). There two objectives of the Efficacy Supplement submission: To expand the labelled indication for ELEVIDYS, to include the treatment of Duchenne muscular dystrophy (DMD) patients
- [Edgewise Receives U.S. FDA Fast Track Designation for EDG-5506 for the Treatment of Duchenne Muscular Dystrophy (Duchenne)](https://www.actionduchenne.org/edgewise-receives-u-s-fda-fast-track-designation-for-edg-5506-for-the-treatment-of-duchenne-muscular-dystrophy-duchenne/) - On February 13th, Edgewise Therapeutics announced that the U.S. Food and Drug Administration (FDA) has granted Fast Track designation for EDG-5506 for the treatment of Duchenne muscular dystrophy. This announcement follows the FDA’s previous decision to grant EDG-5506 Orphan Drug Designation (ODD) for the treatment of Duchenne and Becker, Rare Pediatric Disease Designation (RPDD) for
- [Winter Webinar - Marion Main](https://www.actionduchenne.org/winter-webinar-marion-main/) - As part of our Science Education programme, we are running a series of Winter Webinars with some of your favourite Duchenne experts! We are delighted to announce that we will be welcoming renowned physiotherapist and Duchenne expert Marion Main to our webinar series. This webinar will take place on Tuesday 20th February via Zoom Register
- [Sarepta Therapeutics Announces Positive Data from Part B of MOMENTUM, a Phase 2 Study of SRP-5051 in Patients with Duchenne Muscular Dystrophy Amenable to Skipping Exon 51](https://www.actionduchenne.org/sarepta-therapeutics-announces-positive-data-from-part-b-of-momentum-a-phase-2-study-of-srp-5051-in-patients-with-duchenne-muscular-dystrophy-amenable-to-skipping-exon-51/) - On the Monday the 29th of January, Sarepta Therapeutics announced positive data from Part B of the MOMENTUM study. The MOMENTUM Study is a global Phase 2, multi-ascending dose clinical trial of SRP-5051 (vesleteplirsen) that enrolled patients aged 8 to 21 years. The study assesses dystrophin protein levels in skeletal muscle tissue following ongoing SRP-5051
- [Vamorolone and Corticosteroids - An Overview](https://www.actionduchenne.org/vamorolone-and-corticosteroids-an-overview/) - What are corticosteroids? Corticosteroids are a class of steroid hormones that includes glucocorticoids and mineralocorticoids. However, the term “corticosteroids” is generally used to refer to glucocorticoids (1). These steroids bind to glucocorticoid receptors (GR) that are present in almost every cell in the body. Glucocorticoids are cholesterol-derived steroid hormones synthesised and secreted by the adrenal
- [Cardiac Care for Duchenne Muscular Dystrophy Carriers](https://www.actionduchenne.org/cardiac-care-for-duchenne-muscular-dystrophy-carriers/) - Unfortunately, female carriers have not received a lot of focus from the research community in the past. Here, we will discuss the topic of carriers and associated health, using an interesting and current peer-reviewed publication on the subject.
- [Carriers](https://www.actionduchenne.org/carriers/) - In this bite-sized video we delve into the topic of carriers - exploring who are carriers, why they 'carry' the Duchenne mutation, and how Duchenne is passed on via carriers. So join us as we breakdown this complex topic together!
- [Germline Mosaicism](https://www.actionduchenne.org/germline-mosaicism/) - Join us as we explore what germline mosaicism is and how these sporadic mutations, also known as chromosome alteration, occur in germline cells (eggs and sperm) and how these mutations can lead to Duchenne muscular dystrophy.
- [X-Linked Recessive Inheritance](https://www.actionduchenne.org/x-linked-recessive-inheritance/) - In this video we will explore the pattern of genetic inheritance referred to as 'X linked recessive' - We will highlight how and why the X chromosome plays a fundamental role in the expression and inheritance of Duchenne muscular dystrophy.
- [Spontaneous Mutations](https://www.actionduchenne.org/spontaneous-mutations/) - Join us as explore the topic of spontaneous mutations and how these mutations relate to Duchenne muscular dystrophy. We use simple and accessible language throughout to tackle this complex topic.
- [Physiotherapy in Non-Ambulant Duchenne Muscular Dystrophy](https://www.actionduchenne.org/physiotherapy-in-non-ambulant-duchenne-muscular-dystrophy/) - Question and Answer session about physiotheraphy and treatment in non-ambulant DMD
- [Genetics of Duchenne muscular dystrophy: Why, hows and mutations](https://www.actionduchenne.org/genetics-of-duchenne-muscular-dystrophy-why-hows-and-mutations/) - An introduction to the genome and genetics of Duchenne muscular dystrophy: why it occurs, the types of mutations, and how it is tested for.
- [Question and Answer session with Pharmaceutical Companies](https://www.actionduchenne.org/question-and-answer-session-with-pharmaceutical-companies-2/) - Action Duchenne invited pharmaceutical companies to participate in this question and answer session.
- [Physiotherapy in Ambulant Duchenne Muscular Dystrophy](https://www.actionduchenne.org/physiotherapy-in-ambulant-duchenne-muscular-dystrophy/) - An overview of how physiotherapy techniques are used to measure, monitor and help treat ambulant DMD patients.
- [Bone Health and Puberty Delay in DMD and Emergency Care](https://www.actionduchenne.org/bone-health-and-puberty-delay-in-dmd-and-emergency-care/) - An overview of the assessment and management of puberty delay, factors contributing to bone health and management, and the emergency management of DMD in intercurrent illnesses.
- [Swallowing in Duchenne: An update on Standards of Care](https://www.actionduchenne.org/swallowing-in-duchenne-an-update-on-standards-of-care/) - An update on swallowing and gastrointestinal standards of care: from the lips to the stomach.
- [Overview of Cardiac Care](https://www.actionduchenne.org/overview-of-cardiac-care/) - An overview of Duchenne muscular dystrophy and associated cardiac conditions and the associated diagnostic methods and care.
- [Overview of Respiratory Care](https://www.actionduchenne.org/overview-of-respiratory-care/) - An overview of duchenne muscular dystrophy and associated respiratory conditions and the associated diagnostic methods and care.
- [Latest Clinical Trial Updates](https://www.actionduchenne.org/latest-clinical-trial-updates/) - An update on the progress and findings of the latest therapeutic clinical trials
- [Overview of dystrophin restoring approaches](https://www.actionduchenne.org/overview-of-dystrophin-restoring-approaches/) - Overview of the role of dystrophin in Duchenne and Beckers MD, the therapeutic options and challenges in treating neuromuscular diseases.
- [Overview of inflammation and fibrosis reducing strategies](https://www.actionduchenne.org/overview-of-inflammation-and-fibrosis-reducing-strategies/) - The role of inflammation and fibrosis in DMD myopathy and the latest therapeutic strategies for reducing muscle degeneration.
- [Dystrophinopathy: Female Carriers](https://www.actionduchenne.org/dystrophinopathy-female-carriers/) - The importance of understanding the genetics of female carriers, the prevalence of clinical symptoms and how they're caused, and the services available for symptomatic and non-symptomatic carriers.
- [The European Medicines Agency confirms recommendation for non-renewal of authorisation in the EU of Duchenne muscular dystrophy medicine Translarna](https://www.actionduchenne.org/the-european-medicines-agency-confirms-recommendation-for-non-renewal-of-authorisation-in-the-eu-of-duchenne-muscular-dystrophy-medicine-translarna/) - We shared challenging news with the Duchenne community in September 2023. The European Medicine Agency's (EMA) human medicines committee (CHMP) released a recommendation (read more here) against renewing the approval for the marketing of Translarna in the European Union, which had allowed Translarna to be made available to EU patients. Despite efforts by the manufacturer, PTC, to
- [What is a Splice Site Variant?](https://www.actionduchenne.org/what-is-a-splice-site-variant/) - Here you will learn how these mutations disrupt gene expression and lead to a range of genetic disorders such as Duchenne muscular dystrophy.
- [Reading Frames](https://www.actionduchenne.org/reading-frames/) - Explore the fundamental genetic concept of reading frames in our latest video. Dive into how these frames dictate the translation of DNA into proteins, and how changes in the reading frames can alter these proteins.
- [Genetic Mutations in Duchenne Muscular Dystrophy](https://www.actionduchenne.org/genetic-mutations-in-duchenne-muscular-dystrophy/) - Here we discuss how mutations can occur, and how the genetic mutations in the dystrophin gene leads to Duchenne muscular dystrophy symptoms.
- [What are Exons?](https://www.actionduchenne.org/what-are-exons/) - Learn about what exons are and their crucial role in gene expression and subsequent protein synthesis.
- [Finding Purpose and Hope - A Sibling's Story](https://www.actionduchenne.org/finding-purpose-and-hope-a-siblings-story/) - A moving and heartfelt written by Pilar, a Duchenne sibling and Action Duchenne volunteer
- [Winter Webinar - Dr David Schonfeld](https://www.actionduchenne.org/winter-webinars-david-schonfeld/) - As part of our ongoing Science Education programme, we are running a series of Winter Webinars with some of your favourite Duchenne experts! We are delighted to announce that Dr David Schonfeld will be hosting our first Winter Webinar. This webinar will be held on Saturday 27th January at 5pm via Zoom Register here Dr
- [Winter Webinar - Kirsten Jack](https://www.actionduchenne.org/15554-2/) - Winter Webinar - Kirsten Jack As part of our ongoing Science Education programme, we are running a series of Winter Webinars with some of your favourite Duchenne experts! We are delighted to announce that our second webinar will be held by Kirsten Jack, expert in neurodiversity and co-founder of Uncommon, a social-impact company that helps
- [Dyne Therapeutics Announces Positive Initial Clinical Data From DELIVER Trials in DMD Patients](https://www.actionduchenne.org/dyne-therapeutics-announces-positive-initial-clinical-data-from-deliver-trials-in-dmd-patients/) - Dyne Therapeutics have reported their initial clinical data from the DELIVER trial of DYNE-251 in patients with Duchenne muscular dystrophy who are amenable to exon 51 skipping. DELIVER is a Phase 1/2 global clinical trial evaluating DYNE-251, consisting of a 24-week multiple ascending dose (MAD) randomised placebo-controlled period, a 24-week open-label extension and a 96-week
- [PepGen Announces First Patient Dosed in CONNECT1-EDO51 Phase 2 Clinical Trial of PGN-EDO51 for Duchenne Muscular Dystrophy Patients Amenable to Exon 51 Skipping](https://www.actionduchenne.org/pepgen-announces-first-patient-dosed-in-connect1-edo51-phase-2-clinical-trial-of-pgn-edo51-for-duchenne-muscular-dystrophy-patients-amenable-to-exon-51-skipping/) - PepGen Inc., a clinical-stage biotechnology company advancing the next-generation of oligonucleotide therapies, today announced that the first patient has been dosed in its CONNECT1-EDO51 Phase 2, open-label multiple ascending dose (MAD) clinical trial evaluating PGN-EDO51 for the treatment of Duchenne muscular dystrophy (DMD) patients amenable to an exon 51 skipping therapy. PGN-EDO51, PepGen’s lead clinical candidate
- [Wave Life Sciences Announce the Start of the FORWARD-53 Clinical Study ](https://www.actionduchenne.org/wave-life-sciences-announce-the-start-of-the-forward-53-clinical-study/) - Wave Life Sciences Announce the Start of the FORWARD-53 Clinical Study On the 15th of December 2023, Wave Life Sciences announced the initiation of their phase 2 FORWARD-53 study. The potential registrational study is now fully enrolled and aims to evaluate WVE-N531 in 10 boys with Duchenne muscular dystrophy that are amenable to exon 53
- [Resilience, care and transformation - end of year reflections from our CEO ](https://www.actionduchenne.org/resilience-care-and-transformation-an-end-of-year-reflections-from-our-ceo/) - Resilience, care and transformation - end of year reflections from our CEO As we head towards the bustle and business of the festive season, I am reflecting on the past year. As always with life, there have been ups and downs, joy and grief, success and disappointment. The common thread running through it all for
- [Histology Images](https://www.actionduchenne.org/histology-images/) - Learn the need to know information about histology, including how and why this technique is used in clinical assessments.
- [When to Get a Muscle Biopsy](https://www.actionduchenne.org/when-to-get-a-muscle-biopsy/) - Muscle biopsies are an uncommon, but sometimes an important diagnostic tool. This video will highlight why muscle biopsies are performed, and when these tests should be pursued
- [Genetic Testing & Muscle Biopsy](https://www.actionduchenne.org/genetic-testing-muscle-biopsy/) - Discover valuable information about muscle biopsies and genetic testing and how these tests are used in diagnosing Duchenne muscular dystrophy
- [Blood Test - Creatine Kinase ](https://www.actionduchenne.org/blood-test-creatine-kinase/) - This video explores the significance of blood tests in assessing creatine kinase levels, shedding light on their crucial role in diagnosing Duchenne muscular dystrophy.
- [Physical and Neuromuscular Assesments](https://www.actionduchenne.org/physical-and-neuromuscular-assesments/) - Explore the "how" and why" of physical & neuromuscular assessments and their importance in the diagnosis process.
- [When to consult a clinician ](https://www.actionduchenne.org/when-to-consult-a-clinician/) - In this compact video discover valuable insights on when it is crucial to seek professional guidance and consultation.
- [Hallmark signs and symptoms of Duchenne muscular dystrophy](https://www.actionduchenne.org/hallmark-signs-and-symptoms-of-duchenne-muscular-dystrophy/) - Learn about the common signs of Duchenne in this bite-sized video.
- [The Gowers' Sign](https://www.actionduchenne.org/the-gowers-sign/) - Discover the need to know information about Gowers' sign, a unique physical manoeuvre distinctive of Duchenne muscular dystrophy
- [Females with Duchenne](https://www.actionduchenne.org/females-with-duchenne/) - We know Duchenne primarily affects males, but it can impact females too. Explore this often overlooked aspect of Duchenne muscular dystrophy and its challenges.
- [Epidemiology and Prevalence of Duchenne muscular dystrophy](https://www.actionduchenne.org/epidemiology-and-prevalence-of-duchenne-muscular-dystrophy/) - Epidemology is the study of diseases in populations; how many people they impact, who they impact and why. Let us help you make sense of it all in our 5th Science Live video.
- [What is a rare disease?](https://www.actionduchenne.org/what-is-a-rare-disease/) - Delve into the concept and significance of rare diseases and their impact.
- [Dystrophinopathies](https://www.actionduchenne.org/dystrophinopathies/) - What is a dystrophinopathy? Uncover the complexities and variations within dystrophinopathies, including Duchenne and Becker muscular dystrophies.
- [Origin of the name Duchenne muscular dystrophy](https://www.actionduchenne.org/origin-of-the-name-duchenne-muscular-dystrophy/) - Discover the history behind the naming of Duchenne muscular dystrophy.
- [What is Duchenne muscular dystrophy?](https://www.actionduchenne.org/what-is-duchenne-muscular-dystrophy/) - Explore the fundamental aspects and characteristics of Duchenne muscular dystrophy.
- [PTC Therapeutics Provides Updates on Translarna™ (ataluren) regulatory activities in Europe and the United States](https://www.actionduchenne.org/ptc-therapeutics-provides-updates-on-translarna-ataluren-regulatory-activities-in-europe-and-the-united-states/) - PTC Therapeutics has announced, on the 5th of December 2023, an update on their regulatory progress with the European Medicines Association (EMA) and US Food & Drug Association (FDA). PTC Therapeutics has submitted a briefing document as a part of the re-examination of the initial Committee for Medicinal Products for Human Use (CHMP) negative opinion
- [FDA Grants Edgewise Therapeutics Inc Orphan Drug and Rare Paediatric Disease Designations for Its Muscular Dystrophy Program.](https://www.actionduchenne.org/fda-grants-edgewise-therapeutics-inc-orphan-drug-and-rare-paediatric-disease-designations-for-its-muscular-dystrophy-program/) - On the 30th November Edgewise Therapeutics Inc. (a leading muscle disease biopharmaceutical company) announced that the U.S. Food & Drug Administration (FDA) has granted EDG-5506 Orphan Drug Designation (ODD) for the treatment of Duchenne muscular dystrophy and Becker muscular dystrophy and Rare Pediatric Disease Designation (RPDD) for the treatment of Duchenne. The President and CEO
- [Creating a Shared Vision for Our Duchenne Community - Reflections and Thanks](https://www.actionduchenne.org/creating-a-shared-vision-for-our-duchenne-community-reflections-and-thanks/) - Creating a Shared Vision for Our Duchenne Community - Reflections and Thanks Wow, what an amazing two days we have had together at our Annual International Conference 2023. The team here at Action Duchenne was so proud and honoured to be able to bring together families, patient experts, clinicians, healthcare professionals, industry and equipment providers.
- [United Nations Officially Designates September 7th as World Duchenne Awareness Day](https://www.actionduchenne.org/united-nations-officially-designates-september-7th-as-world-duchenne-awareness-day/) - The global rare disease community is celebrating the UN’s first formal acknowledgement of a day dedicated to a rare disease. In a groundbreaking moment for the Duchenne community, 7th September will be officially observed annually from 2024. The adoption of the resolution requires a total of 97 votes from Member States. Due to the collaborative
- [Advocacy and Campaigns: using our experience, voice and resources to make change happen](https://www.actionduchenne.org/advocacy-and-campaigns-using-our-experience-voice-and-resources-to-make-change-happen/) - Advocacy and Campaigns: using our experience, voice and resources to make change happen Written by Kathy Wedell We are pleased to introduce Kathy Wedell's blog about her experience of advocacy and campaigns with Action Duchenne. Kathy's son Isaac lives with Duchenne and she speaks about the weight that lived experience carries as evidence and the
- [Stakes 'couldn't be higher' - PTC CEO on propect of Translarna losing EU conditional authorisation](https://www.actionduchenne.org/stakes-couldnt-be-higher-ptc-ceo-on-propect-of-translarna-losing-eu-conditional-authorisation/) - Stakes 'couldn't be higher' – PTC CEO on prospect of Translarna losing EU conditional authorisation PTC Therapeutics' Translarna, a critical treatment for boys with Duchenne muscular dystrophy (DMD) in the EU, faces an uncertain future following the recent recommendation from the European Medicines Agency (EMA)'s CHMP not to renew the conditional marketing authorisation. Matthew Klein, CEO
- [Solid Biosciences Receives FDA Clearance for Duchenne Muscular Dystrophy Gene Therapy Candidate SGT-003](https://www.actionduchenne.org/solid-biosciences-receives-fda-clearance-for-duchenne-muscular-dystrophy-gene-therapy-candidate-sgt-003/) - Solid Biosciences Receives FDA Clearance for Duchenne Muscular Dystrophy Gene Therapy Candidate SGT-003 Solid Biosciences Inc., a leading life sciences company specialising in precision genetic medicines for neuromuscular and cardiac diseases, has announced the FDA clearance for its Investigational New Drug (IND) application for SGT-003, a groundbreaking gene therapy for Duchenne Muscular Dystrophy (DMD). Key
- [Thank you for attending the Action Duchenne Annual International Conference 2023!](https://www.actionduchenne.org/thank-you-for-attending-the-action-duchenne-annual-international-conference-2023/)
- [Welcome to the Annual Action Duchenne International Conference 2023](https://www.actionduchenne.org/welcome-to-the-annual-action-duchenne-international-conference-2023/) - Welcome to the Annual Action Duchenne International Conference 2023 On behalf of the whole team at Action Duchenne, I would like to give you the warmest of welcomesto this year’s International Conference. Our theme is Educating, Supporting and Empowering.Thank you for making the time to be with us for the next two days; it is
- [Update on EMBARK from Roche](https://www.actionduchenne.org/update-on-embark-from-roche-2/) - On October 31, 2023, Roche provided a community letter to share timely updates about Roche Duchenne muscular dystrophy (DMD) research efforts. The topline results of Part 1 (1-year data) of the EMBARK Phase 3 study have been announced. ● The study did not meet its primary endpoint of showing a statistically significant difference in a
- [Sarepta Therapeutics Announces Topline Results from EMBARK, a Global Pivotal Study of ELEVIDYS Gene Therapy for Duchenne Muscular Dystrophy](https://www.actionduchenne.org/sarepta-therapeutics-announces-topline-results-from-embark-a-global-pivotal-study-of-elevidys-gene-therapy-for-duchenne-muscular-dystrophy/) - Sarepta Therapeutics, Inc. (NASDAQ: SRPT), the leader in precision genetic medicine for rare diseases, announced topline results from EMBARK (Study SRP-9001-301), a global, randomized, double-blind, placebo-controlled, Phase 3 clinical study of ELEVIDYS (delandistrogene moxeparvovec-rokl) in patients with Duchenne muscular dystrophy between the ages of 4 through 7 years. The results of EMBARK trial support the
- [Edgewise Therapeutics Announces Expansion of their EDG-5506 Clinical Program in Duchenne Muscular Dystrophy (Duchenne)](https://www.actionduchenne.org/edgewise-therapeutics-announces-expansion-of-their-edg-5506-clinical-program-in-duchenne-muscular-dystrophy-duchenne/) - Edgewise Therapeutics Announces Expansion of their EDG-5506 Clinical Program in Duchenne Muscular Dystrophy (Duchenne) (Please bear in mind that these trials are announced to be conducted in the USA) BOULDER, Colo.--(BUSINESS WIRE)-- Edgewise Therapeutics, Inc., (Nasdaq: EWTX), a leading muscle disease biopharmaceutical company, announced an expansion of their clinical development program of EDG-5506, an investigational orally administered
- [Santhera Receives Positive CHMP Opinion Recommending Approval of AGAMREE® (vamorolone) for the Treatment of Duchenne Muscular Dystrophy](https://www.actionduchenne.org/santhera-receives-positive-chmp-opinion-recommending-approval-of-agamree-vamorolone-for-the-treatment-of-duchenne-muscular-dystrophy/) - Santhera Receives Positive CHMP Opinion Recommending Approval of AGAMREE® (vamorolone) for the Treatment of Duchenne Muscular Dystrophy Ad hoc announcement pursuant to Art. 53 LR Committee for Medicinal Products for Human Use (CHMP) issues positive opinion for AGAMREE® (vamorolone) for the treatment Duchenne muscular dystrophy (DMD) in children and adults aged 4 years and older
- [Our new Information and Support Pack for Schools is here and don't miss our online Turning Point sessions for 8-14 year olds!](https://www.actionduchenne.org/our-new-information-and-support-pack-for-schools-is-here-and-dont-miss-our-online-turning-point-sessions-for-8-14-year-olds/) - Our new Information and Support Pack for Schools is here and don't miss our online Turning Point sessions for begins for 8-14 year olds! We have been working hard behind the scenes to develop our information and support pack for schools. Many schools won't have come across Duchenne before and many of our families can
- [We spend 88.7p in every £1 on research, support & education](https://www.actionduchenne.org/we-spend-88-7p-in-every-1-on-research-support-education/) - Thank you to each and every one of our supporters for your continued dedication to our aims and objectives. It's important for us to keep you informed where your money is being spent and we are delighted to tell you that 88.7p in every £1 we raise, here at Action Duchenne is spent on our
- [The strength of our community](https://www.actionduchenne.org/the-strength-of-our-community/) - The strength of our community As we move towards the last few months of the year, I am so proud of the hard work that is coming to fruition. When we began our ‘All-through Support’ project, backed by the National Lottery, in 2021, our aim was to listen to our community to identify their unmet
- [My experience as a mentor on the Yes, I Can Residential Weekend](https://www.actionduchenne.org/my-experience-as-a-mentor-on-the-yes-i-can-residential-weekend/) - My experience as a mentor on the Yes, I Can Residential Weekend A blog by Benjamin James Recently, I was asked by Action Duchenne to be a mentor for the Yes I Can residentialweekend at Calvert Trust in Exmoor. This was a fantastic opportunity for me to meet otheramazing young people with Duchenne and support
- [Thank you to everyone who was part of Science on Tour 2023](https://www.actionduchenne.org/thank-you-to-everyone-who-was-part-of-science-on-tour-2023/) - Thank you to everyone who was part of Science on Tour 2023 We have loved every minute of meeting so many of you. We have shared knowledge, experience, some tears and a lot of laughter too. We've learned from each other and offered support and understanding. Here are just a few of our highlights -
- [Update on the European Medicines Agency recommendation not to renew Translarna marketing
authorisation in the European Union](https://www.actionduchenne.org/update-on-the-european-medicines-agency-recommendation-not-to-renew-translarna-marketingauthorisation-in-the-european-union/) - Update on the European Medicines Agency recommendation not to renew Translarna marketingauthorisation in the European Union On Friday, 22 September, PTC Therapeutics, the company that manufactures Translarna, issued astatement to Duchenne Patient Advocacy Organisations that provides an update on the EuropeanMedicine Agency’s human medicines committee (CHMP) decision not to recommend renewal of theconditional marketing authorization for
- [Duchenne from the sidelines, a sibling perspective](https://www.actionduchenne.org/duchenne-from-the-sidelines-a-sibling-perspective/) - Duchenne from the sidelines, a sibling perspective Written by Logan Kaye, Duchenne sibling Whenever you hear about a family who has been affected by a medical condition, you always feel an overwhelming wave of sympathy for them. I remember seeing stories on the news or on youtube about people who live with medical problems that
- [Action Duchenne Expresses Deep Concern Over CHMP's Negative Opinion on Translarna™ for Duchenne Muscular Dystrophy](https://www.actionduchenne.org/action-duchenne-expresses-deep-concern-over-chmps-negative-opinion-on-translarna-for-duchenne-muscular-dystrophy/) - Action Duchenne Expresses Deep Concern Over CHMP's Negative Opinion on Translarna™ for Duchenne Muscular Dystrophy Action Duchenne expresses profound concern following the recent decision by the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) regarding Translarna™ (Ataluren). PTC Therapeutics announced that CHMP has given a negative opinion on the
- [Online Event for Newly Diagnosed Families](https://www.actionduchenne.org/online-event-for-newly-diagnosed-families/) - Online Event for Newly Diagnosed Families Has your family had a recent Duchenne diagnosis? Are you feeling lost, alone and overwhelmed? Would you like a way to gain crucial knowledge, ask your questions, meet our support team and connect with others in a similar situation? We want to invite you to our Newly Diagnosed Family
- [World Duchenne Awareness Day - An Open Letter to the Duchenne Community](https://www.actionduchenne.org/world-duchenne-awareness-day-an-open-letter-to-the-duchenne-community/) - World Duchenne Awareness Day - An Open Letter to the Duchenne Community To the International Duchenne Community World Duchenne Awareness Day is held on the 7th September each year. Today Action Duchenne joins the International Duchenne community to raise awareness of this condition. We can make a difference for millions of people impacted by rare
- [Introducing Science Live](https://www.actionduchenne.org/introducing-science-live/) - Action Duchenne Launches Science Live Video Project Empowering Duchenne families, bringing research into your home We are thrilled to announce an initiative that aims to bring the world of science directly to you. Action Duchenne presents the "Science Live Videos" project, a weekly video series designed to empower Duchenne families with science, shedding light on essential
- [Supporting families with science](https://www.actionduchenne.org/supporting-families-with-science/) - Supporting families with science It's already been 8 months since I joined Action Duchenne as a Science Communications Coordinator – a journey filled with new experiences and incredible encounters. Time flies, but it has made me realise the impact that a dedicated team can achieve toward a greater goal. Each person is an essential puzzle
- [A Postcard from Florence](https://www.actionduchenne.org/a-postcard-from-florence-2/) - A Postcard from Florence Florence joined a group of young people and their parents and carers at the Calvert Trust in Exmoor over the August bank holiday weekend. This was as part of our Yes I Can transition to adulthood project for young people living with Duchenne and was one of 4 residential weekends taking
- [Helping you through COVID-19](https://www.actionduchenne.org/helping-you-through-covid-19/) - Support and resources for our Duchenne community A message from the National Director, Florence Boulton With the impact of COVID-19 on our personal and professional lives growing and changing every day, my team are watching developments closely and are constantly considering how we can use our resources to positively support you and each other through
- [Anxiety study for young people and families living with Duchenne](https://www.actionduchenne.org/give-your-valuable-perspective-in-an-anxiety-study-for-young-people-and-families-living-with-duchenne/) - Dubowitz Neuromuscular Centre and UCL Great Ormond Street Institute of Child Health hope this study will provide valuable information for caregivers and care providers, which will help to improve the support for people with Duchenne who are affected by anxiety.
- [Fundraisers adapt training during COVID-19](https://www.actionduchenne.org/fundraisers-training-during-covid-19-isolation/) - Jonathan and Mike are two keen cyclists who decided to take on a 360km tour round the regional offices of their company, Taylor Wimpey! Inspired by an ex-colleague's son who lives with Duchenne muscular dystrophy, the two engineers have sought sponsorship for each of their stops, increasing their fundraising potential. The route They will start
- [Re-emerging from lockdown](https://www.actionduchenne.org/florences-blog/) - by Florence, National Director The past 18 months in lockdown have been undoubtedly difficult for most and devastating for many. What has come out of this exceptional time in history, however, is the power of humanity. The times we have pulled together, to help others, to support those who are less fortunate and to think
- [FDA share guidance for Duchenne and Becker muscular dystrophy drug development](https://www.actionduchenne.org/fda-share-guidance-for-duchenne-and-becker-muscular-dystrophy-drug-development/) - We are happy to share the news that the U.S. Food and Drug Administration (FDA) have published a guidance document for industry, which details what they are looking for in the development of new drugs for Duchenne and Becker muscular dystrophy.
- [COVID-19: how you can help](https://www.actionduchenne.org/covid-19-an-update-from-action-duchenne/) - The Covid-19 pandemic is having a huge impact on every area of our lives. Now, more than ever, our life-saving work becomes even more crucial for the Duchenne community. Our small team here at Action Duchenne are dedicating every waking moment to ensure that your questions are answered, that we are sharing the most up
- [Coronavirus (COVID-19) advice](https://www.actionduchenne.org/coronavirus-covid-19-advice/) - During the COVID-19 outbreak in the UK, we provided regular updates to the Duchenne community. This page received over 40,000 unique page views from across the globe, providing the international Duchenne community with easy to understand, straightforward advice and information. Vaccine update - children The Government has recently announced that some children aged 12-17 will be
- [Catabasis present new data showing significantly slowed Duchenne disease progression](https://www.actionduchenne.org/catabasis-present-new-data-showing-significantly-slowed-duchenne-disease-progression/) - Catabasis Pharmaceuticals Presents New Edasalonexent Data Showing Significantly Slowed Duchenne Muscular Dystrophy Disease Progression As Measured By MRI Through One Year Of Treatment. -- Statistically Significant Improvements in MRI T2 Rate of Change Compared to Control Consistent with Improvements Demonstrated in Assessments of Muscle Function in MoveDMD Trial --
- [Breaking news - updated Standards of Care published](https://www.actionduchenne.org/breaking-news-updated-standards-of-care-published/) - The process used to generate these Standards of Care have received NICE accreditation.
- [Another amazing day with the Sporting Bears](https://www.actionduchenne.org/another-amazing-day-with-the-sporting-bears/) - Article by Jess Breeze | Duchenne Mum | Volunteer On the 19th March I had the privilege to spend another day with the Sporting Bears. The Sporting Bears or “The Bears”, as they are affectionately known, are a dedicated group of classic car and sports car enthusiasts with the primary aim – to raise money for
- [You have an important voice - make it heard in the discussion about Raxone and the EAMS](https://www.actionduchenne.org/you-have-an-important-voice-make-it-heard-in-the-discussion-about-raxone-and-the-eams/) - Provide evidence to the MHRA about Raxone and the unmet needs of people living with Duchenne
- [What Raxone being given approval through the EAMS scheme means for the Duchenne community](https://www.actionduchenne.org/what-raxone-being-given-approval-through-the-eams-scheme-means-for-the-duchenne-community/) - Over a number of years we have worked with Santhera Pharmaceuticals and other Duchenne charities in relation to Santhera’s Phase III Clinical Trial study. We recognised that it was important through the trial to investigate the potential for Raxone (idebenone) to help delay the onset of severe breathing difficulties for those with Duchenne.
- [Determination and achievement ](https://www.actionduchenne.org/determination-and-achievement/) - This article is written by Florence Boulton, National Director “We are all stronger, together” is a fantastic motto, but it’s even better when put into practice! On Bank Holiday Monday, the Action Duchenne running team demonstrated their power and strength, coming together to smash personal bests, and spread the love at this year’s London Vitality
- [Bone Health in Duchenne muscular dystrophy](https://www.actionduchenne.org/bone-health-in-duchenne-muscular-dystrophy/) - Your views matter about bone health. There’s still time to take part in an important survey to improve bone health in Duchenne.
- [As Expected, Sarepta Receives Negative CHMP Opinion for EXONDYS (eteplirsen) to Treat Patients with Duchenne in Europe](https://www.actionduchenne.org/as-expected-sarepta-receives-negative-chmp-opinion-for-exondys-eteplirsen-to-treat-patients-with-duchenne-in-europe/) - Sarepta to seek re-examination of the opinion and request that a Scientific Advisory Group (SAG) be convened
- [Action Duchenne working with Scottish Family to get Translarna approved by SMC](https://www.actionduchenne.org/action-duchenne-working-with-scottish-family-to-get-translarna-approved-by-smc/) - Ross Munro, living with Duchenne, was first enrolled on the PTC Therapeutics trial of Translarna in 2008, and has been in receipt of the groundbreaking treatment since the following year. Over that time Ross has experienced the benefits that Translarna can bestow, remaining ambulant and witnessing improvements in his handwriting owed to increased muscle function.
- [Action Duchenne represent our community at bone protective therapy ENMC workshop](https://www.actionduchenne.org/action-duchenne-represent-our-community-at-bone-protective-therapy-enmc-workshop/) - Our DMD Registry Curator, Angela Stringer recently attended the 236th EMNC International Workshop.
- [AD Champions take on London Landmarks Half Marathon](https://www.actionduchenne.org/ad-champions-take-on-london-landmarks-half-marathon/) - On Sunday 2nd April our seven AD Champions took to the streets of London to run the half marathon London Landmarks route. The weather was good - no rain and a slight chilly breeze to cool down our hard working champions - and the sun eventually came out! Our cheer team got a great spot
- [Action Duchenne Launches 2023 Science Education Programme](https://www.actionduchenne.org/action-duchenne-launches-2023-science-education-programme/) - “KNOWLEDGE is power” is the message UK charity, Action Duchenne is sending out to families through their 2023 Science on Tour. All parents want the best for their children, especially when they are unwell. But parents of children diagnosed with rare diseases are seldom given the information that they need to make informed choices for
- [PTC reveals winners of STRIVE awards on World Duchenne Awareness Day](https://www.actionduchenne.org/ptc-reveals-winners-of-strive-awards-on-world-duchenne-awareness-day/) - Over the past few months, we are proud to have shared photos, updates and stories from our ‘Yes I can’ project. You’ll have seen the looks of concentration on the faces of the 16-25 year olds abseiling at the Calvert Trust residential weekends, or the numerous guest speakers at our fortnightly online meet ups. The
- [Raxone: A Guide for the Community](https://www.actionduchenne.org/raxone-a-guide-for-the-community/) - In partnership with fellow organisations, Muscular Dystrophy UK, Duchenne UK, the Duchenne Family Support Group, and DMD Pathfinders, we have produced two guides for families and healthcare professionals to educate and answer questions on the drug and EAMS process.
- [Santhera Receives Negative CHMP Opinion on Appeal for Authorization of Raxone® in Duchenne](https://www.actionduchenne.org/santhera-receives-negative-chmp-opinion-on-appeal-for-authorization-of-raxone-in-duchenne/) - Santhera Pharmaceuticals announces that the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) maintained its negative opinion on the Type II extension application for Raxone® (idebenone) in Duchenne.
- [Sarconeos announced as new potential treatment for Duchenne](https://www.actionduchenne.org/sarconeos-announced-as-new-potential-treatment-for-duchenne/) - Biophytis clinical stage drug-candidate Sarconeos demonstrates efficacy in preclinical models of Duchenne muscular dystrophy
- [Sarepta announce early, preliminary gene therapy trial results](https://www.actionduchenne.org/sarepta-announce-early-preliminary-gene-therapy-trial-results/) - Sarepta therapeutics has announced preliminary results of a gene therapy trial that is using a harmless virus to deliver a small but functional dystrophin gene (micro-dystrophin) to the leg muscles of people living with Duchenne. The early results are encouraging, but it is too early to say whether the potential treatment will prove to be safe or effective.
- [Spotlight on Fundraisers June 2018](https://www.actionduchenne.org/spotlight-on-fundraisers-june-2018/) - Here are some of our wonderful fundraisers for this month, including wing walkers and sky divers!
- [Summit announces new analysis showing ezutromid significantly reduced muscle inflammation](https://www.actionduchenne.org/summit-announces-new-analysis-showing-ezutromid-significantly-reduced-muscle-inflammation/) - Further analysis of the 24-week interim dataset showed a statistically significant decrease in muscle inflammation as measured by magnetic resonance spectroscopy transverse relaxation time.
- [Summit Completes Dosing of Ezutromid in PhaseOut DMD Clinical Trial](https://www.actionduchenne.org/summit-completes-dosing-of-ezutromid-in-phaseout-dmd-clinical-trial/) - Summit Therapeutics announces the completion of ezutromid dosing in patients with Duchenne muscular dystrophy ('DMD') for the full 48-week PhaseOut DMD clinical trial. Top-line data from the full trial continue to be expected in the third quarter of 2018
- [Families gain knowledge and support at Wales regional roundtable meeting](https://www.actionduchenne.org/families-gain-knowledge-and-support-at-wales-regional-roundtable-meeting/) - On Saturday 20 January 2018, Action Duchenne hosted a Wales round table meeting in Llandough Hospital. It gave Welsh families the opportunity to get a better understanding of the future outlook for those living with Duchenne in Wales and to see first-hand progress being made which could make major differences in improving the quality of life for those living with Duchenne.
- [Duchenne Science events back on the road in 2020](https://www.actionduchenne.org/duchenne-science-events-back-on-the-road-in-2020/) - We've welcomed over 100 people to our Science on Tour events throughout 2019, these empowering and invaluable sessions have been a huge success and we are excited to be 'back on the road' in 2020. Book now What? Learn about the Duchenne research and clinical trials process Get your questions answered by our Head of Research,
- [Drew's Way First Steps walk](https://www.actionduchenne.org/drews-way-first-steps-walk/) - A big thank you and congratulations to new Duchenne parents Molly Pitts and Zak Denny who organised the hugely successful 'First Steps 7 mile walk' this weekend along Lowestoft Beach. Their little boy, Drew (1), was diagnosed with Duchenne muscular dystrophy on Boxing Day 2020. Since his diagnosis, Drew's parents have taken action, setting up a
- [Diagnosis, support and fundraising](https://www.actionduchenne.org/diagnosis-support-and-fundraising/) - By Lyndsey Kaye Riley was just 3 years old when he was diagnosed with Duchenne. There was no history of it in my family, so it came as such a shock. I remember feeling like my world ended that day. It didn’t, of course. My son was still the same smiley happy little boy he
- [Demelza and Action Duchenne collaborative project: transition to adulthood fact-finding](https://www.actionduchenne.org/demelza-and-action-duchenne-collaborative-project-transition-to-adulthood-fact-finding/) - Action Duchenne aims to support our young people transitioning to adulthood by providing professional-led residential and online skills training. The first steps: Building on the success of our National Lottery-funded Takin’ Charge project. We have worked in partnership with Demelza Children’s Hospice to gain a clearer understanding of the training and support our young people
- [Catabasis reports Edsalonexent preserved muscle function and slowed progression of Duchenne through more than one year of treatment](https://www.actionduchenne.org/catabasis-reports-edsalonexent-preserved-muscle-function-and-slowed-progression-of-duchenne-through-more-than-one-year-of-treatment/) - Consistent improvements sustained across all assessments of muscle function through 48 and 60 weeks of Edasalonexent treatment in MoveDMD® trial. Single global Phase 3 trial expected to begin in first half of 2018.
- [Capricor receives FDA RMAT designation for CAP-1002](https://www.actionduchenne.org/capricor-receives-fda-rmat-designation-for-cap-1002/) - CAP-1002 has been shown to exert potent immunomodulatory activity and stimulate cellular regeneration
- [Action Duchenne raise over £30,000 this year at charity balls](https://www.actionduchenne.org/action-duchenne-raise-over-30000-this-year-at-charity-balls/) - Lesley Wegg, the Maurice family and the Ward family have all held charity balls for Action Duchenne this year raising an amazing total of £30,000 between them.
- [Action Duchenne funded Sc-OT-DMD study recruited 91 people](https://www.actionduchenne.org/action-duchenne-funded-sc-ot-dmd-study-recruited-91-people/) - Up to 40% of boys lose ambulation earlier after the first fracture, so research into this area is important to allow us to find better ways to treat fragile bones in DMD.
- [Access to Medicines and the Campaign for Translarna (Ataluren) timeline](https://www.actionduchenne.org/access-to-medicines-and-the-campaign-for-translarna-ataluren-timeline/) - Since the start of 2015, Action Duchenne campaigned tirelessly for this treatment to be made available, exerting maximum external pressure upon NHS England, the National Institute of Health & Care Excellence, and the Scottish Medicines Consortium whilst working within their evaluation processes. Read the timeline from the campaign.
- [Acceleron takes back drug rights from Celgene to start pulmonary push](https://www.actionduchenne.org/acceleron-takes-back-drug-rights-from-celgene-to-start-pulmonary-push/) - CEO says drug could be first disease-modifying drug for pulmonary arterial hypertension.
- [A day with the Sporting Bears](https://www.actionduchenne.org/a-day-with-the-sporting-bears/) - Article by Jess Breeze | Duchenne Mum | Volunteer I have worked with my colleague Kim for nearly 5 years, I’ve known she was ‘into her cars’ and I had a vague understanding of a charity she volunteers for called ‘The Sporting Bears.’ When I say vague; cars, shows, charity and kids was the extent
- [Adult physiotherapy webinar with Marina Di Marco - RECORDING](https://www.actionduchenne.org/5948-2/) - Thank you to everyone who joined us online last night for our FREE webinar with Marina Di Marco, Principal Neuromuscular Physiotherapist at Queen Elizabeth University Hospital Glasgow. Great to get expert advice to confirm doing everything correctly! Also, good to acknowledge what issues other young men are having, and to listen to advice given to
- [2023 is the year of the half marathon and family friendly, fully inclusive events!](https://www.actionduchenne.org/2023-is-the-year-of-the-half-marathon-and-family-friendly-fully-inclusive-events/) - It’s been a busy few months building our 2023 Events Fundraising challenges. It’s set to be an amazing year, with so many amazing individuals signing up to support us by running, completing a challenge or planning their own very special community fundraising event for us. Half Marathons It is wonderful to see our loyal supporters
- [DMD Bone Health Information and Sharing Session](https://www.actionduchenne.org/dmd-bone-health-information-and-sharing-session/) - We are delighted to announce that Action Duchenne, together with MDUK, is co-hosting an event for Duchenne adults and carers. We are inviting parents and carers of young adults with DMD (18 years or older). During the session, you will learn about the importance of bone health and have the opportunity to participate in a focus group, which
- [My viewpoint as a bereaved parent by Angela Stringer](https://www.actionduchenne.org/my-viewpoint-as-a-bereaved-parent-by-angela-stringer/) - My viewpoint as a bereaved parent by Angela Stringer
- [July Runner Support Session](https://www.actionduchenne.org/july-runner-support-session/) - We had our second runner support session on Zoom on Thursday 13th July at 7pm. Unfortunately no one was able to attend so we did not record the session. In this post there is a lot of useful information for runners, so do take a few minutes to read it. Questions about your event? For
- [Summer Fundraising](https://www.actionduchenne.org/summer-fundraising/) - Summer Fundraising The Summer is a brilliant time to fundraise - the sunshine, longer days and school holidays mean there’s much more scope to get creative and think outside the box! You don’t have to join an organised event - you can do your own thing and make it as big or small as you
- [Group Counselling](https://www.actionduchenne.org/group-counselling/) - Group Counselling We know that being a Duchenne parent or carer is tough, and that a diagnosis like Duchenne impacts many of the relationships in your life. We know that it’s hard to find people who understand and that support can be hard to come by. Action Duchenne is offering FREE online group counselling programmes
- [An intervention for parents of boys with DMD is under development, please share your experiences and needs](https://www.actionduchenne.org/an-intervention-for-parents-of-boys-with-dmd-is-under-development-please-share-your-experiences-and-needs/) - We are developing an intervention for parents of boys with DMD and want to knowmore about your experiences and needs! If you are interested and want to knowmore on how to get involved, please contact Andria: a.papageorgiou@surrey.ac.uk Do you want to know more? To find out more about Duchenne science, gain crucial knowledge and support, please
- [The power of our community](https://www.actionduchenne.org/the-power-of-our-community/) - The power of our community Our team up and down the country continue to do great job delivering the Science-on-Tour workshops; building contacts with specialist clinical centres; supporting families by building peer-to-peer support groups; supporting children, young people transitioning to adulthood, supporting community events and fundraising activities and implementing the work plan for Science Live
- [June Runner Support Session](https://www.actionduchenne.org/june-runner-support-session/) - We had our first ever runner support session on Zoom on Monday 5th June at 7pm. Our runner support sessions are for people who have registered to take part in a running challenge for us, or those who are interested in running for us. I had some great questions last night about resources and materials
- [Edgewise Therapeutics Announces Positive 12-Month Topline Results From The ARCH Open Label Study Of EDG-5506 In Adults With Becker Muscular Dystrophy (BMD)](https://www.actionduchenne.org/edgewise-therapeutics-announces-positive-12-month-topline-results-from-the-arch-open-label-study-of-edg-5506-in-adults-with-becker-muscular-dystrophy-bmd/) - Edgewise Therapeutics announced today positive 12-month topline results from the ongoing ARCH study, an open label, single-center study assessing the safety, tolerability, impact on muscle damage biomarkers, and pharmacokinetics (PK) of EDG-5506 in adults with BMD. EDG-5506 is an orally administered small molecule designed to prevent contraction-induced muscle damage in dystrophinopathies including BMD and Duchenne
- [Registration is OPEN for the Action Duchenne Annual International Conference 2023](https://www.actionduchenne.org/registration-is-open-for-the-action-duchenne-annual-international-conference-2023/) - Registration is OPEN for the Action Duchenne Annual International Conference 2023 FREE tickets for Duchenne families as well as every young person and adult living with Duchenne, plus a grant of up to £100 towards the cost of travel and accommodation for Duchenne families. REGISTER ‘Educating, supporting and empowering’ is the theme of Action Duchenne’s
- [Kelly's Action Duchenne journey so far](https://www.actionduchenne.org/kellys-action-duchenne-journey-so-far/) - Kelly Molkenthin has been with the Action Duchenne team since March. She's sharing a bit more about how she got here, what she's been up to and what she's working on. It has been just over 3 months since I joined the Action Duchenne team as a Support Worker, although in the best kind of
- [Roche UK issues a statement following Sarepta's Press release regarding ELEVIDYS FDA decision](https://www.actionduchenne.org/roche-uk-issues-a-statement-following-sareptas-press-release-regarding-elevidys-fda-decision/) - Roche UK issues a statement following Sarepta's Press release regarding ELEVIDYS FDA decision Following the press release from Sarepta released on 22nd June 2023 and published on our website here, Roche UK has provided an update to the Duchenne Community. What has been announced? The US Food and Drug Administration (FDA) has approved delandistrogene moxeparvovec-rokl (also known
- [Sarepta Therapeutics Announces FDA Approval of ELEVIDYS, the First Gene Therapy to Treat Duchenne Muscular Dystrophy](https://www.actionduchenne.org/sarepta-therapeutics-announces-fda-approval-of-elevidys-the-first-gene-therapy-to-treat-duchenne-muscular-dystrophy/) - Sarepta Therapeutics announced U.S. Food and Drug Administration (FDA) accelerated approval of ELEVIDYS (delandistrogene moxeparvovec-rokl), an adeno-associated virus based gene therapy for the treatment of ambulatory pediatric patients aged 4 through 5 years with Duchenne muscular dystrophy (DMD) with a confirmed mutation in the DMD gene. ELEVIDYS is contraindicated in patients with any deletion in exon 8 and/or exon 9 in
- [RAF Falcon Sgt Doug McAll to lift the weight of a C130J Hercules](https://www.actionduchenne.org/raf-falcon-sgt-doug-mcall-to-lift-the-weight-of-a-c130j-hercules/) - RAF Falcon Sgt Doug McAll to lift the weight of a C130J Hercules
- [Join National Director Florence Boulton as part of our Vitality London 10,000 Team!](https://www.actionduchenne.org/join-national-director-florence-boulton-as-part-of-our-vitality-london-10000-team/) - Join National Director Florence Boulton as part of our Vitality London 10,000 Team! On September 24th 2023, the hugely popular Vitality London 10,000 will take place on its traditional iconic course, starting on The Mall, going out through Trafalgar Square to the City of London, passing some of the capital’s most famous landmarks, before finishing
- [D.AD's Night - Dads Against Duchenne](https://www.actionduchenne.org/d-ads-night-dads-against-duchenne/) - D.AD's Night - Dads Against Duchenne It is a difficult place being a Dad in Duchenne and there isn’t much opportunity to speak with others face to face. We're going to be launching a virtual Dad’s night hosted by myself to give Duchenne dads some time and space to just talk to other guys in
- [Join our At Home Superheroes!](https://www.actionduchenne.org/join-our-at-home-superheroes/) - Join our At Home Superheroes! Ivelina, mum of Presian ( 5 year old DMD hero ), tells us what motivated her family to sign up for the Superheroes Summer Adventure. "Since our son's diagnosis June 2022 and realising we need help more than ever, we found the charity Action Duchenne supporting families of children with DMD. We
- [Fighting for the future](https://www.actionduchenne.org/fighting-for-the-future/) - Fighting for the future While we continue our much needed day to day work supporting our families, I want to share with you the recent developments behind the scenes. I am passionate about being part of the fight for access to new treatments for Duchenne and at Action Duchenne we are driven to advocate for
- [Much more than altruism](https://www.actionduchenne.org/much-more-than-altruism/) - Much more than altruism 1st - 7th June marks National Volunteers Week 2023. I began volunteering for Action Duchenne in 2019. My son Sebastian had been diagnosed with Duchenne in 2016. His brother Toby was born shortly after, and I had already decided that going back to my previous job as a youth worker wasn't
- [Thank you to our volunteers](https://www.actionduchenne.org/thank-you-to-our-volunteers/) - Thank you to our volunteers 1st - 7th of June is National Volunteers Week and we want to say thank you! In 2022/23 the team here at Action Duchenne had the pleasure of working with 28 regular volunteers giving their expertise and time on a range of tasks from website, HR support, impact measurement, webinars,
- [Jake's 21st Birthday Bash](https://www.actionduchenne.org/jakes-21st-birthday-bash/) - Jake’s 21st Birthday Bash
- [Join us for the second half of Yes I Can Online](https://www.actionduchenne.org/join-us-for-the-second-half-of-yes-i-can-online/) - Join us for the second half of Yes I Can Online We are now half way through our 12 online sessions. So far we've heard from Alex James and Sanjeev Mann about accessing the music scene when you live with Duchenne, looked at ways of coping with anxiety with our support officer Kelly Molkenthin, found
- [Isaac White tells us all about his first fundraising event for Action Duchenne](https://www.actionduchenne.org/isaac-white-tells-us-all-about-his-first-fundraising-event-for-action-duchenne/) - Isaac White tells us all about his first fundraising event for Action Duchenne "Party Planning is what I was born to do! Enjoy!" On Friday 19th May,19 year old Isaac White held an amazing event combining his love for food and electronic music with his 'Sounds of Shefflied' evening. As well as music, there was
- [Ask the pharmaceutical companies your questions ahead of Action Duchenne's 2023 Annual International Conference](https://www.actionduchenne.org/ask-the-pharmaceutical-companies-your-questions-ahead-of-action-duchennes-2023-annual-international-conference/) - Ask the pharmaceutical companies your questions ahead of Action Duchenne's 2023 Annual International Conference To make sure you get your voice heard, email your questions NOW to our science team: mehreen@actionduchenne.org and sofiya@actionduchenne.org
- [Roche UK issues statement to the Duchenne Community following Sarepta's Update on Regulatory Review of SRP-9001 gene therapy.](https://www.actionduchenne.org/roche-uk-issues-statement-to-the-duchenne-community-following-sareptas-update-on-regulatory-review-of-srp-9001-gene-therapy/) - Roche UK issues statement to the Duchenne Community following Sarepta's Update on Regulatory Review of SRP-9001 gene therapy. Following the update from Sarepta released on 24th May 2023 and published on our website here, Roche have provided an update to the Duchenne Community. What has been announced? Following the U.S. Food and Drug Administration (FDA)
- [Sarepta Therapeutics Announces Update on Regulatory Review of SRP-9001](https://www.actionduchenne.org/sarepta-therapeutics-announces-update-on-regulatory-review-of-srp-9001/) - Sarepta Therapeutics Announces Update on Regulatory Review of SRP-9001 Sarepta Therapeutics, today provided the following update on the Biologics License Application (BLA) for SRP-9001 (delandistrogene moxeparvovec), which is currently under review for the treatment of ambulant individuals with Duchenne muscular dystrophy (DMD) who have a confirmed mutation of the DMD gene. Following discussions with FDA, the Agency
- [PepGen Announces Clearance by Health Canada of CTA for PGN-EDO51 to Begin the Phase 2 Clinical Trial, CONNECT1-EDO51, for the Treatment of Duchenne Muscular Dystrophy](https://www.actionduchenne.org/pepgen-announces-clearance-by-health-canada-of-cta-for-pgn-edo51-to-begin-the-phase-2-clinical-trial-connect1-edo51-for-the-treatment-of-duchenne-muscular-dystrophy/) - PepGen Announces Clearance by Health Canada of CTA for PGN-EDO51 to Begin the Phase 2 Clinical Trial, CONNECT1-EDO51, for the Treatment of Duchenne Muscular Dystrophy PepGen Inc. (Nasdaq: PEPG), today announced that the company has received a No Objection Letter (NOL) for its Clinical Trial Application (CTA) from Health Canada for its Phase 2 CONNECT1-EDO51
- [Sarepta Therapeutics Announces Positive Vote from U.S. FDA Advisory Committee Meeting for SRP-9001 Gene Therapy to Treat Duchenne Muscular Dystrophy](https://www.actionduchenne.org/sarepta-therapeutics-announces-positive-vote-from-u-s-fda-advisory-committee-meeting-for-srp-9001-gene-therapy-to-treat-duchenne-muscular-dystrophy/) - Sarepta Therapeutics Announces Positive Vote from U.S. FDA Advisory Committee Meeting for SRP-9001 Gene Therapy to Treat Duchenne Muscular Dystrophy Sarepta Therapeutics today announced that the U.S. Food and Drug Administration (FDA) Cellular, Tissue and Gene Therapies Advisory Committee (CTGTAC) voted 8 to 6 in support of accelerated approval of SRP-9001 (delandistrogene moxeparvovec) for the treatment of ambulatory patients with
- ["Making something positive out of something negative"](https://www.actionduchenne.org/making-something-positive-out-of-something-negative/) - "Making something positive out of something negative" “We chose to support Action Duchenne because not only do they focus on research & educating, but they also focus on the whole journey, by supporting families & connecting families.” Ruth and Ian Taylor’s lives changed forever on the 14th January 2020. Their much loved 2 year old
- [The story behind Ruth's charity dinner dance](https://www.actionduchenne.org/charity-dinner-dance/) - The story behind Ruth's charity dinner dance Ruth and Ian Taylor tell us about their journey with Duchenne so far in this inspiring interview. Ruth talks about how she turned an idea into an amazing event with the help of her friends and family.
- [Take part in our Turning Point survey for a chance to win a £20 Amazon Voucher!](https://www.actionduchenne.org/take-our-turning-point-survey-for-a-chance-to-win-a-20-amazon-voucher/) - We need you! Are you a parent/caregiver of a child living with Duchenne? Are you a teacher, TA, SENDCO or clinician working with someone living with Duchenne? Moving from primary to secondary education can be really difficult for young people living with Duchenne muscular dystrophy. Many start to see their mobility decline and they find
- [Turning Point - a Mum's Perspective](https://www.actionduchenne.org/turning-point-a-mums-perspective/) - Lizzie Deeble, Action Duchenne Project Assistant and Duchenne Parent, shares the some of the challenges facing her son Sebastian at this stage of his Duchenne journey. There is a time, the time when your child begins to be embarrassed when you kiss them goodbye, when they’ve stopped looking at you like you hung the moon
- [Yes I Can Residential Weekends 2023](https://www.actionduchenne.org/yes-i-can-residential-weekends-2023/) - Yes I Can is running 3 residential weekends as part of our transition to adulthood project. These are open to all 16-25 year olds living with Duchenne along with your parent/carers and will take place at a completely accessible activity centre. You will be totally independent from your home environment and among your peers. You
- [Vamorolone NDA mid-cycle review meeting by FDA completed](https://www.actionduchenne.org/vamorolone-nda-mid-cycle-review-meeting-by-fda-completed/) - Vamorolone NDA mid-cycle review meeting by FDA completed Santhera Pharmaceuticals and ReveraGen BioPharma, Inc announce the successful completion of the mid-cycle review meeting by the U.S. Food and Drug Administration (FDA) of the new drug application (NDA) for vamorolone for the treatment of Duchenne muscular dystrophy (DMD). At the recent mid-cycle review meeting, the FDA
- [RAF Falcons support Action Duchenne for their 2023 display season](https://www.actionduchenne.org/raf-falcons-support-action-duchenne-for-their-2023-display-season/) - Charity is very important to the RAF Falcons and every year they find time during their busy schedule to raise money for select charities nominated by the team. They have chosen Action Duchenne as one of their chosen charities to raise donations for during their display season in recognition of one of their team members
- [](https://www.actionduchenne.org/merry-christmas/)
- [Run Local (or not!)](https://www.actionduchenne.org/run-local/) - We’re delighted to partner with RunForCharity to help you take part in hundreds of events. Simply select your region below to find events happening near you...or far away from you! You choose! You can take part in an event for Action Duchenne. Every penny you raise will help the UK’s children, young people and adults
- [Lighter Days and Warmer Months](https://www.actionduchenne.org/lighter-days-and-warmer-months/) - Lighter Days and Warmer Months As we head into Spring, it is wonderful to begin to see the longer lighter days, the flowers beginning to bloom and the chill of Winter starting to give way to warmth. I can see the hope that Spring brings reflected through many aspects of our work. Science on Tour
- [Dyne Therapeutics Receives FDA Orphan Drug and Rare Pediatric Designations for DYNE-251 for the Treatment of Duchenne Muscular Dystrophy](https://www.actionduchenne.org/dyne-therapeutics-receives-fda-orphan-drug-and-rare-pediatric-designations-for-dyne-251-for-the-treatment-of-duchenne-muscular-dystrophy/) - Dyne Therapeutics Receives FDA Orphan Drug and Rare Pediatric Designations for DYNE-251 for the Treatment of Duchenne Muscular Dystrophy Dyne Therapeutics announced that DYNE-251, an investigational therapeutic for Duchenne muscular dystrophy (DMD) mutations amenable to exon 51 skipping, was granted U.S. Food and Drug Administration (FDA) orphan drug and rare pediatric disease designations. DYNE-251 is
- [Happy Mother's Day](https://www.actionduchenne.org/happy-mothers-day/) - Happy Mother's Day Today we celebrate all of the amazing Duchenne mummies in our community and want to let you know that we see the incredible job you do. You are advocates, carers, physiotherapists, occupational therapists. education experts, appointment managers, cheerleaders and so much more. We see your power, your courage and your unwavering love.
- [Moorside Primary school's Holi celebrations raise money for Action Duchenne](https://www.actionduchenne.org/moorside-primary-schools-holi-celebrations-raise-money-for-action-duchenne/) - Moorside Primary School in North Yorkshire had the amazing idea of combining their Holi celebrations with fundraising for Action Duchenne. Inspired by pupil Edward who lives with Duchenne, the school held a colour run to raise both money and awareness. It looked like everyone involved had a lot of fun and the love and support
- [Continuing to come together](https://www.actionduchenne.org/continuing-to-come-together/) - Continuing to come together 2023 has already brought meaningful victories as we rally science to our support. In January we heard that NICE has approved TRANSLARNA - a global first for publicly funded transformational treatment for Duchenne. Science on Tour In the coming weeks we begin two of our much - needed projects. Science on
- [Santhera submits marketing authorisation application to the UK MHRA for Valmorolone in Duchenne Muscular Dystrophy.](https://www.actionduchenne.org/santhera-submits-marketing-authorisation-application-to-the-uk-mhra-for-valmorolone-in-duchenne-muscular-dystrophy/) - Santhera submits marketing authorisation application to the UK MHRA for Valmorolone in Duchenne Muscular Dystrophy On March 2, 2023 – Santhera Pharmaceuticals (SIX: SANN) made an announcement that it has submitted a marketing authorization application (MAA) to the UK Medicines and Healthcare products Regulatory Agency (MHRA) for vamorolone for the treatment of Duchenne muscular dystrophy
- [Hear about Science on Tour 2023 from our Science Officers](https://www.actionduchenne.org/hear-about-science-on-tour-2023-from-our-science-officers/) - Our Science Officers tell you more about Science on Tour 2023 Chief Scientific Officer Dr Mehreen Arif tells you all about the content of our SOT workshops and explains why she'd love to see you at one of our 30 locations! The newest member of our team, Science Communication Officer Dr Sofiya Got, introduces herself
- [An overview of Translarna](https://www.actionduchenne.org/an-overview-of-translarna/) - Translarna (ataluren) is the first licensed treatment for an underlying genetic cause of Duchenne muscular dystrophy. It has been designed to target a particular genetic mutation, called a ’nonsense mutation’ which causes about 10-15 percent of cases of the condition. Clinical data suggests that ataluren is likely to slow down disease progression and delay the
- [BIND Study](https://www.actionduchenne.org/bind-study/) - UCL researchers, under supervision from Prof Francesco Muntoni, are conducting research studies to better understand how Duchenne and Becker Muscular Dystrophies impact mental health and the brain. To hear more about our studies please watch this video! If you are interested, please contact Lily Smythe (l.smythe@ucl.ac.uk) or Irina Guliaeva (i.guliaeva@ucl.ac.uk). Do you want to know more?
- [BREAKING NEWS](https://www.actionduchenne.org/breaking-news/) - NICE publishes final guidance recommending access to Duchenne muscular dystrophy treatment Translarna NICE has published final guidance recommending Translarna (also called ataluren) as an option for treating Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene in people two years and over who can walk, providing that the company (PTC) provides the
- [Santhera concludes agreement with French authorities on Raxone reimbursement and plans to submit request for an Early Access Program for Vamorolone](https://www.actionduchenne.org/santhera-concludes-agreement-with-french-authorities-on-raxone-reimbursement-and-plans-to-submit-request-for-an-early-access-program-for-vamorolone/) - Santhera Pharmaceuticals announces that it has secured a final reimbursement agreement with the French authorities related to Raxone® (idebenone) for the treatment of Leber's hereditary optic neuropathy (LHON) and sales are expected to resume shortly. In addition, the Company plans to submit a request in France in the near-term for an early access program for
- [Yes I Can is back for 2023!](https://www.actionduchenne.org/yes-i-can-is-back-for-2023/) - Yes I Can is back for 2023! We’re transforming transition for the future, are you with us? Are you a young person aged 14-25 living with Duchenne? Would you like to; learn to drive, or find out about accessible sport?get practical information about applying for the benefits you need and how to access support?find out
- [End of Life and Bereavement Support Survey](https://www.actionduchenne.org/end-of-life-and-bereavement-support-survey/) - Parents and family members have told us once their loved ones have passed on they no longer feel part of the Duchenne community as they were before. They have lost that connection that supported them for many years. We would like to understand what you think about the End of Life and Bereavement support available to
- [Starting 2023 with hope](https://www.actionduchenne.org/starting-2023-with-hope/) - Starting 2023 with hope I want to begin by wishing all of you a very happy new year and sharing the hope that 2023 will be a year of positive change for our community. We were so excited to be able to share the news that NICE has published final guidance recommending access to Duchenne
- [Regenexbio announces phases l/ll trial of RGX-202, a novel gene therapy candidate for Duchenne muscular dystrophy.](https://www.actionduchenne.org/regenexbio-announces-phases-l-ll-trial-of-rgx-202-a-novel-gene-therapy-candidate-for-duchenne-muscular-dystrophy/) - Regenxbio has initiated Phase I/II AFFINITY DUCHENNE™ trial of RGX-202 and the company is also enrolling newly active observational screening study, AFFINITY BEYOND, evaluating AAV8 antibody prevalence in boys with Duchenne. Please read the full press release here.
- [Sofiya joins the Action Duchenne team](https://www.actionduchenne.org/sofiya-joins-the-action-duchenne-team/) - A very warm welcome to Sofiya Got who has joined the Action Duchenne family as our new Science Communication Coordinator. Sofiya comes to us with expertise in medical literature, clinical research, and project management gained in different countries and cultures. Having worked as a dentist while also gaining varied experience in both research, patient care
- [Santhera and ReveraGen Announce FDA Acceptance of New Drug Application for Vamorolone in Duchenne Muscular Dystrophy](https://www.actionduchenne.org/santhera-and-reveragen-announce-fda-acceptance-of-new-drug-application-for-vamorolone-in-duchenne-muscular-dystrophy/) - Santhera Pharmaceuticals and ReveraGen BioPharma, Inc announce that the U.S. Food and Drug Administration (FDA) has accepted the new drug application (NDA) for vamorolone for the treatment of Duchenne muscular dystrophy (DMD) for filing. The FDA has set October 26, 2023, as the Prescription Drug User Fee Act (PDUFA) target action date. Please see the
- [Accessible Travel](https://www.actionduchenne.org/accessible-travel/) - Panel participants share their experience with travelling, any tools or resources that they find particularly helpful. Speakers: Tom Kelly; Sanjeev Mann; Kerry Thompson; Ravi Mehta
- [Accessible Gaming](https://www.actionduchenne.org/accessible-gaming/) - Panel participants share their experience with accessible gaming and provide guidance regarding any tools or resources they find particularly helpful. Speakers: Sanjeev Mann and Ravi Mehta.
- [Living independently and building a care team](https://www.actionduchenne.org/living-independently-and-building-a-care-team/) - Living independently and building a care team. Panel participants share how they built a care team around them and the resources that help in living independently Speakers: Luis Canto E Castro; Benjamin James; Tom Kelly; Cath McNicol; Ravi MehtaLiving independently and building a care team
- [Peer lead - experiences of adult care](https://www.actionduchenne.org/peer-lead-experiences-of-adult-care/) - Panel participants share their experience with the care they have received. Speakers: Ravi Mehta; Like Millington; James Parkin.
- [Transitioning into adulthood from pediatric services Mahalekshmi Desikan](https://www.actionduchenne.org/transitioning-into-adulthood-from-pediatric-services-mahalekshmi-desikan/) - Transition from paediatric to adult services Speaker: Mahalekshmi Desikan
- [Question and Answer session with Pharmaceutical companies](https://www.actionduchenne.org/question-and-answer-session-with-pharmaceutical-companies/) - Question and Answer session with Pharmaceutical companies. Action Duchenne invited pharmaceutical companies to participate in this Question and Answer session.
- [Building Resilience-finding ways for your family to thrive with Duchenne](https://www.actionduchenne.org/building-resilience-finding-ways-for-your-family-to-thrive-with-duchenne/) - Coping with diagnosis, dealing with change and building resilienceSpeakers: Gary Fegan; Neeru Naik; David Schonfeld; Victoria Young
- [Parent led on sharing practical advice and tips-housing, adaptations, fundraising and grants](https://www.actionduchenne.org/parent-led-on-sharing-practical-advice-and-tips-housing-adaptations-fundraising-and-grants-2/) - Practical advice and tips - housing, adaptations, fundraising and grants.Speakers: Clare Bosanquet; Alex Berbank; Simon Dadd; Romla Kadir
- [Coping with Grief and Loss David Schonfeld](https://www.actionduchenne.org/coping-with-grief-and-loss-david-schonfeld/) - Coping with Grief and Loss following the diagnosis of DMDSpeaker: David Schonfeld
- [Learning and Behaviour in Duchenne James Poysky](https://www.actionduchenne.org/learning-and-behaviour-in-duchenne-james-poysky/) - Overview of the impact of DMD on the brain and common cognitive/ learning problems that can occurSpeaker: James Poysky
- [Steroids - the pros; cons and how to make difficult decisions; Michela Guglieri, Jarod Wong](https://www.actionduchenne.org/steroids-the-pros-cons-and-how-to-make-difficult-decisions-michela-guglieri-jarod-wong/) - Overview of Steroids and How can we manage steroid side effects (bone, puberty, weight gain) more proactively?Speakers: Michela Guglieri and Jarod Wong
- [Siblings - lived experiences Hazel Weaver](https://www.actionduchenne.org/siblings-lived-experiences-hazel-weaver/) - Siblings - lived experiencesSpeaker: Hazel Weaver
- [Reflection and celebration](https://www.actionduchenne.org/reflection-and-celebration/) - A blog by Florence, National Director As we move toward the end of 2022, I’ve been looking back on the year we've had and reflecting on both the challenges and the successes, the hard times and the good, the ups and the downs. As the nation has been taking the tentative steps back from the
- [Festive Hamper Competition](https://www.actionduchenne.org/festive-hamper-competition/) - *This competition has now closed and we are making contact with our winner!* As a thank you for supporting us this year we are are giving you the chance to win this amazing Fortnum & Mason Christmas Hamper. Bursting with buttery biscuits, delicious spreads and our famous Earl Grey tea, this wondrous wicker is the
- [Latest Clinical trial updates (outside of gene therapy)](https://www.actionduchenne.org/latest-clinical-trial-updates-outside-of-gene-therapy/) - Latest Clinical trial updates (Gene Therapy) Speakers: Volker Straub and Michela Guglieri
- [Gene Therapy 101](https://www.actionduchenne.org/gene-therapy-101/) - Gene Therapy 101 The types of gene therapy: gene addition (micro-dystrophin), exon skipping and genome editing.Speakers: Annemieke Aartsma-Rus and Linda Popplewell
- [Corticosteroids in young boys with Duchenne the results of the FOR DMD study](https://www.actionduchenne.org/corticosteroids-in-young-boys-with-duchenne-the-results-of-the-for-dmd-study/) - Corticosteroids in young boys with DMD: the reCorticosteroids in young boys with DMD The results of the FOR DMD study, a multi-centre study comparing three corticosteroid regimensSpeaker: Michela Guglieri
- [International Conference and Community](https://www.actionduchenne.org/international-conference-and-community-2/) - International Conference and Community Blog by Florence, National Director Hello everyone! I am glad to be back sharing with you my updates and insights from the Action Duchenne 2022 International Conference. Action Duchenne International Conference 2022 Wow! What a weekend it has been! The Action Duchenne International Conference 2022 took place on Friday 11th and
- [Parent and expert lead sharing experiences and advice with learning and behaviour](https://www.actionduchenne.org/parent-and-expert-lead-sharing-experiences-and-advice-with-learning-and-behaviour/) - Parent and expert lead sharing experiences and advice with learning and behaviour
- [Update to the Standards of Care](https://www.actionduchenne.org/update-to-the-standards-of-care/) - Update to the Standards of Care -> Introduction to the Standards of Care Project and Respiratory Guidance : Michela Guglieri -> Cardiac Care of Children with Dystrophinopathy and Females carrying DMD-gene variations : John P. Bourke -> Emergency Care in Duchenne : Cathy Turner
- [What's in the pipeline? (beyond gene therapy)](https://www.actionduchenne.org/whats-in-the-pipeline-beyond-gene-therapy/) - What's in the pipeline? (beyond gene therapy) -> Exon skipping :Tom Roberts -> New version of exon skipping : Linda Popplewell
- [Latest Clinical trial updates (Gene Therapy)](https://www.actionduchenne.org/latest-clinical-trial-updates-gene-therapy/) - Latest Clinical trial updates (outside of gene therapy) Volker Straub Mariacristina Scoto
- [Sarepta Theraputics Gene Therapy Granted Priority Review by FDA](https://www.actionduchenne.org/sarepta-theraputics-gene-therapy-granted-priority-review-by-fda/) - Sarepta Therapeutics announced that the U.S. FDA has accepted the Company's Biologics License Application for SRP-9001 gene therapy for treatment of ambulant individuals with Duchenne muscular dystrophy. SRP-9001 has been granted Priority Review by the U.S FDA with regulatory action date of May 29,2023. SRP-9001, an investigational gene therapy for Duchenne muscular dystrophy is being developed in partnership with Roche to treat the underlying cause
- [More than Hanging Out](https://www.actionduchenne.org/more-than-hanging-out/) - More than Hanging Out Blog by Jess Breeze, Programme Assistant When I spent an amazing day with the Sporting Bears on 19th March, (see blog here ) I never imagined I would be fortunate enough to see how the money they raised that day would be used and the impact of their vital fundraising. The
- [Roche DMD Team: End of Year Duchenne Community Update](https://www.actionduchenne.org/rocheupdate/) - As we approach the end of the year, Roche are providing an update to the Duchenne Community about their activities surrounding delandistrogene moxeparvovec (SRP-9001) for the treatment of Duchenne muscular dystrophy (DMD). Roche are developing this in partnership with Sarepta. Please find the full update here: Roche-End-of-Year-Community-Letter-December-2022Download
- [Our amazing week in Levi, Lapland](https://www.actionduchenne.org/our-amazing-week-in-levi-lapland/) - by Julia Marren, Duchenne parent to Lucas and Charlie We’ve never taken the boys abroad before; I was excited but worried. How would the boys cope physically? With the change in routine? Environment? Fatigue? food? & the cold? Yes, there were temper tantrums, mood swings & melt downs but overall, the boys coped really well,
- [North Star Ambulatory Assessment (NSAA) and the Oxford Scale](https://www.actionduchenne.org/nsaa-and-the-oxford-scale/) - There are two sets of scores, usually recorded in tables, that you may see on your children's clinic notes. If you are not sure what these mean please have a chat to your child's physiotherapists who examine them and they will explain in more detail. You can also read on to find out a bit
- [Support our new project this Christmas](https://www.actionduchenne.org/support-our-new-project-this-christmas/) - Recently my son’s needs changed, his school was struggling and without the correct equipment and training in place a decision by the local authority meant that my son could no longer safely attend school. I knew I was going to need help. Who do I turn to? Who can help me, help him? Who do I
- [The Action Duchenne International Conference 2022; Opening Remarks](https://www.actionduchenne.org/the-action-duchenne-international-conference-2022-opening-remarks/) - Our international conference has now officially started! After months of hard work and dedication from our amazing team to get the event on, we are so delighted it's here! See Florence's opening remarks here
- [Santhera and ReveraGen Complete NDA Submission to FDA for Vamorolone in Duchenne Muscular Dystrophy](https://www.actionduchenne.org/santhera-and-reveragen-complete-nda-submission-to-fda-for-vamorolone-in-duchenne-muscular-dystrophy/) - Ad hoc announcement pursuant to Art. 53 LR Pratteln, Switzerland, and Rockville, MD, USA, October 27, 2022 – Santhera Pharmaceuticals (SIX: SANN) and ReveraGen BioPharma, Inc announce that they have completed the rolling submission of a new drug application (NDA) to the U.S. Food and Drug Administration (FDA), seeking priority review for vamorolone for the treatment
- [Important update for DMD parents and carers](https://www.actionduchenne.org/important-update-for-dmd-parents-and-carers/) - Important update for DMD parents and carers:DMD Care UK’s new recommendations for cardiac care have been published in the BMJ Open Heart today.You can find the detailed press release here : http://ow.ly/HI2K50LhpqL.Download an accessible version of the guidelines for families or read the full clinical recommendations in the BMJ Open Heart:http://ow.ly/byuG50LhpqK
- [Halloween Hamper winner announced!](https://www.actionduchenne.org/halloween-competitions/) - We are pleased to announce the winner of our Halloween Hamper Competition is David Pitts! "My daughter Molly and her fiancée found out their son Drew had Duchenne when he was about six months old. He is now two. My wife and I became members, and all our family took part in a sponsored walk,
- [Action Duchenne International Conference](https://www.actionduchenne.org/international-conference-launches/) - ‘Educating, enabling and including’ is the theme of the unmissable 20th Action Duchenne International Conference, which launches this week. Bringing together people from across the world; including individuals living with Duchenne muscular dystrophy and their families, patient experts, clinicians, healthcare professionals, industry and equipment providers, this is the first in-person Action Duchenne International Conference since
- [Florence’s blog October](https://www.actionduchenne.org/florences-blog-october/) - This month has been a time for real reflection for millions of people across the UK, The Commonwealth and the entire world. The passing of Queen Elizabeth II sent shockwaves across the world. Her Majesty has left a void which many are still feeling days and weeks afterwards, and will continue to feel. For me
- [NICE publishes draft guidance on access to Duchenne treatment Translarna](https://www.actionduchenne.org/nice-publishes-draft-guidance-on-access-to-duchenne-treatment-translarna/) - NICE has published draft guidance stating that although Translarna (also known as ataluren) is clinically effective and an innovative treatment, there is doubt as to its cost effectiveness. NICE’s draft recommendation is that people currently receiving Translarna should continue to have access to it until they and their NHS clinician consider it appropriate to stop,
- [London Marathon 2022](https://www.actionduchenne.org/london-marathon-2022/) - A blog about our amazing and official marathon finishers, Rody and Terrie. As Community Fundraising and Support Officer I support people who take on a challenge event or a community fundraiser for Action Duchenne. I am so very lucky our supporters are such wonderful, friendly and inspiring people. I really enjoy getting to know each
- [Peer-to-peer support - transitioning to secondary](https://www.actionduchenne.org/peer-to-peer-support-transitioning-to-secondary/) - This week's Friday Hive support session (as part of the All-through Support project) we talked about transitioning to secondary school and how to make the right choices for your young person. Next Friday we will be talking about surgery and what to expect if your child, young person or adult needs surgery (tendon release, spinal
- [Finding Hope after a diagnosis by Dr Jo Griffin](https://www.actionduchenne.org/finding-hope-after-a-diagnosis/) - Dr Jo Griffin is a parent carer, psychologist and researcher interested in the emotional wellbeing of parents of disabled children. Her book 'Day by Day: Emotional Wellbeing in Parents of Disabled Children' is available on Amazon, which is based on her personal and professional experience, including doctoral research on the topic. Jo also runs the
- [Questions at the Conference](https://www.actionduchenne.org/questions-at-the-conference/) - Action Duchenne is providing a platform for you, the Duchenne community, to ask questions from the leading Pharmaceutical companies driving therapeutic advances in the Duchenne field. At Action Duchenne's International Conference 2022 we will be bringing together experts, clinicians and pharmaceutical companies from across the world. To abide by the current UK regulations and ABPI code of
- [Big up the RAMS!](https://www.actionduchenne.org/big-up-the-rams/) - It is not everyday that we have a premier community football club show us their support, but on Saturday 26th March Beaconsfield Town FC (aka the RAMS) showed their support for our cause at their non-league day match against Wimborne Town FC! Dougie Young, age 8 and living with Duchenne, was invited to be the
- [Sound Force & The Velvet Tones: Concerts for Action Duchenne](https://www.actionduchenne.org/sound-force-concert-for-action-duchenne/) - We want to say a big thank you to Sound Force Big Band and The Velvet Tones for the amazing concerts they put on for Action Duchenne in December and January. They raised an amazing £620 for Action Duchenne. Dougie Young, who is 8 years old and lives with Duchenne, lit up the room even
- [Newly diagnosed family online event](https://www.actionduchenne.org/newly-diagnosed-family-online-event/) - Building your foundation of Duchenne knowledge Online via ZoomSaturday 22nd October 202214:00 - 17:00 GMTAll welcome More information An online support event for newly diagnosed families. Get more information, support and understanding of Duchenne muscular dystrophy. Perfectly timed to be three weeks before the main Action Duchenne Conference, 11 & 12 November in Leicestershire. Get
- [Yes I Can So Far……](https://www.actionduchenne.org/yes-i-can-so-far/) - Blog written by Lizzie Deeble | Project Engagement & Support Assistant | Duchenne Mum Yes I Can is our pilot transition programme, put together after careful consultation with collaboration with Demelza Hospice. We designed our project around the responses from the young people we surveyed, noting the unmet needs and the identified gaps in support.
- [Conference agenda](https://www.actionduchenne.org/12134-2/) - Join us for two days in November as we explore the latest research, treatments and updates. Watch presentations, Q&A sessions and join discussions in our 4 content streams; What’s new in ResearchThe Duchenne JourneyAdults living with DuchenneGrowing up with Duchenne. A big thank you to our speakers from across the world, we are proud to
- [Thank you to Oakley C of E Combined School](https://www.actionduchenne.org/thank-you-to-oakley-c-of-e-combined-school/) - Our Support and Community Fundraising Officer and Duchenne parent Victoria Young went into her children's school last week to give an assembly to pupils about Action Duchenne and to talk about how we are all unique but share similar experiences, and how many people have to ‘adapt’ and do things a little differently. She also
- [Edgewise announces FDA authorisation for Phase 2 clinical trial](https://www.actionduchenne.org/edgewise-announces-fda-authorisation-for-phase-2-clinical-trial/) - Edgewise has announced the FDA has authorized Phase 2 clinical trial for the treatment of Duchenne. The Lynx trial is a placebo-controlled trial to assess the effects of three doses of EDG-5506, over 12 weeks on safety, pharmacokinetics, and biomarkers of muscle damage. All patients will continue in an open-label extension for a total of
- [Sarepta Therapeutics announces scholarship program](https://www.actionduchenne.org/sarepta-therapeutics-announces-scholarship-program/) - Twenty exceptional individuals living with Duchenne muscular dystrophy will receive a scholarship of up to $5,000 as they pursue their post-secondary education. Route 79, The Duchenne Scholarship Program was created in 2018 by Sarepta Therapeutics, to recognise community involvement and personal essay. Now in its fifth year, the Program has been expanded to include siblings
- [Exciting announcements](https://www.actionduchenne.org/exciting-announcements/) - Florence Boulton's blog - National Director World Duchenne Awareness day 2022 On the 7th September (7/9 a nod to 79 exons on the dystrophin gene) we are proud to join the World Duchenne Organisation (WDO) and the international Duchenne community on World Duchenne Awareness Day. This year, giving a podium to Women and Duchenne, the
- [Sarepta updates on MOMENTUM clinical trial](https://www.actionduchenne.org/sarepta-updates-on-srp-5051/) - Sarepta Therapeutics has announced that the FDA has lifted its clinical hold on SRP-5051 (vesleteplirsen). Designed to skip exon 51 of the dystrophin gene, SRP-5051 is a second generation exon skipping drug . Researchers believe it will enter muscles more efficiently than the first generation drugs and this could improve its efficiency. The hold in
- [Pfizer shares update on Phase 2 DAYLIGHT clinical trial](https://www.actionduchenne.org/pfizer-daylight-trial-update/) - We are pleased to share an update with you from US based pharmaceutical and biotechnology corporation, Pfizer about their clinical trials. "Following your request to be kept informed about our clinical trials work in the area of Duchenne muscular dystrophy, we wanted to share the news that our Phase 2 DAYLIGHT clinical trial evaluating fordadistrogene
- [On the ground at the Great British Beer Festival](https://www.actionduchenne.org/on-the-ground-at-the-great-british-beer-festival/) - Blog by Lynnette Ellison, Marketing & Support Officer | Duchenne Parent “All staff and volunteers can remove their hi-vis… the festival is now OPEN”. The announcement echoed round the enormity of the 19th century grand hall of London Olympia and we were off! The Great British Beer Festival is unique. It’s a place where thousands
- [The CAMRA Great British Beer Festival](https://www.actionduchenne.org/the-camra-great-british-beer-festival/) - From 2-6 August groups of Action Duchenne volunteers donned their blue AD t-shirts, grabbed their collection buckets and took London Olympia by storm! The lovely people at the Campaign for Real Ale (CAMRA) chose us as their charity for the biggest beer festival in the UK – the Great British Beer Festival! It was a fantastic opportunity for
- [Capturing highs and lows](https://www.actionduchenne.org/capturing-highs-and-lows/) - Blog by Florence Boulton, National Director Invitation to Action Duchenne International Conference 2022 ‘Educating, enabling and including’ is the theme of the unmissable 20th International Conference, which launches this week. From its inaugural meeting in 2002 at Imperial College London, Action Duchenne International Conference is the preeminent Duchenne muscular dystrophy conference in the UK, has
- [PTC transition survey](https://www.actionduchenne.org/ptc-transition-survey/) - We are working with PTC Therapeutics to get answers to important questions about transition from paediatric to adult care. PTC would like to find out opinions from the following people; 1) Teenagers and young people living with Duchenne who; are about to begin transition between paediatric and adult carehave recently transitioned between paediatric and adult
- [Sarepta recruiting for MIS51ON exon skipping study](https://www.actionduchenne.org/sarepta-recruiting-for-mis51on-exon-skipping-study/) - Sarepta has announced they are recruiting for their MIS51ON clinical research study in the UK. A randomized, double-blind, dose finding and comparison study of the safety and efficacy of a high dose of Eteplirsen, preceded by an open-label dose escalation, in patients with Duchenne muscular dystrophy with deletion mutations amenable to Exon 51 skipping. About
- [Barrie, Christine and Stephen share their 5 days in Krakow with us.](https://www.actionduchenne.org/barrie-christine-and-stephen-share-their-5-days-in-krakow-with-us/) - We had a fantastic time in Krakow through Enable Holidays. We stayed in Hotel WYSPIANSKI room 109. This was a fully accessible room with a massive wet room with shower chair attached to wall and rails either side of the toilet. There was plenty of room for wheelchair storage in room. The hotel reception staff
- [Translarna update](https://www.actionduchenne.org/translarna-update/) - The treatment ataluren (Translarna) for Duchenne muscular dystrophy has now exited managed access and entered the NICE re-evaluation process. In order to provide some reassurance to those already receiving ataluren through managed access, NICE and NHSE have worked to produce the below statement: NHS England and PTC therapeutics have agreed an arrangement to ensure continuity
- [Insights from a Duchenne Grandad](https://www.actionduchenne.org/insights-from-a-duchenne-grandad/) - Recorded at Science on Tour 2022 in Manchester. More about the workshops The Duchenne Science on Tour events are engaging, informal, free workshops, covering important topics about Duchenne muscular dystrophy for parents, caregivers and professionals. Find out more about the science behind DuchenneUnderstand more about scientific researchHelp to make informed decisions about treatment optionsUnbiased information
- [Indoor Skydiving Experience Giveaway!](https://www.actionduchenne.org/indoorskydive-giveaway/) - *Competition now closed* A fantastic experience worth £67.99! The winner receives the equivalent free-fall time of 3 real skydives, flight certificate, equipment hire and flexible booking. Available in Basingstoke, Manchester or MIlton Keynes. Should our winner not live near or in easy access to these locations we will find an indoor skydiving venue closer by!
- [Step by step guide to the EHCP process](https://www.actionduchenne.org/step-by-step-guide-to-the-ehcp-process/) - In this session Clair Warner, SEATTS PD Team Manager, shares her decades of specialist knowledge and experience to help our families navigate the education, health and care plan (EHCP) process. 00.01 - Introduction02.05 - The EHCP process04.32 - Diagnosis the questions05.58 - Capturing passions and aspirations08.25 - Talking to your child about school10.18 - Free
- [Niall O'Doherty's birthday fundraiser](https://www.actionduchenne.org/niall-odohertys-birthday-fundraiser/) - Do you want to join me in making a difference? I'm raising money in aid of Action Duchenne and every donation will help. Thank you in advance for your contribution to this cause that means so much to me.More information about Action Duchenne: Duchenne muscular dystrophy is a degenerative muscle wasting condition affecting approx. 2500
- [A postcard from Florence](https://www.actionduchenne.org/a-postcard-from-florence/) - This past fortnight, Florence, our National Director has joined Mehreen and Alex at the Science on Tour workshops in Birmingham and Newcastle. It's been such a joy meeting all of you at the workshops I've had the privilege to attend.It makes me so proud that Action Duchenne are actively reaching out to the Duchenne community
- [Results from Italfarmaco's EPIDYS trial](https://www.actionduchenne.org/results-from-italfarmacos-epidys-trial/) - Italfarmaco Group announces positive topline data from Phase 3 trial showing beneficial effect of Givinostat in patients with Duchenne muscular dystrophy This article summarises the results shared by Italfarmaco at the Annual PPMD conference on 25th June 2022. The company presented positive topline data from their EPIDYS, Phase 3 clinical trial evaluating Givinostat in boys
- [Register for 'Yes I can' online and residential](https://www.actionduchenne.org/register-for-yes-i-can-online-and-residential/) - 'Yes I can' online workshops Every fortnight, on a Wednesday at 7pm, Ravi will be joined online by expert speakers, covering a range of important topics such as; learning to drive, what to do in an emergency, assisted tech and how to recruit and manage your PAs. These online sessions are open to all 14-25
- [On the road with the Science on Tour](https://www.actionduchenne.org/on-the-road-with-the-science-on-tour/) - Wow! What an amazing 3 weeks it has been at the Duchenne Science on Tour 2022. We are officially 'on the road', travelling the country to visit the Duchenne community. We are on a mission to connect you to each other, arm you with the scientific ‘how’ and ‘why’ to ask the important questions and
- [Edgewise Therapeutics announces positive 2-month interim results from the ARCH open label study of EDG-5506 in adults with Becker muscular dystrophy (BMD)](https://www.actionduchenne.org/edgewise-therapeutics-announces-positive-2-month-interim-results-from-the-arch-open-label-study-of-edg-5506-in-adults-with-becker-muscular-dystrophy-bmd/) - This article summaries the 2-month interim results shared by Edgewise Therapeutics from the ARCH study, evaluating EDG-5506 in adults with Becker muscular dystrophy. The detailed press release can be found here. Background/ EDG-5506 target Skeletal muscles are made up of parallel, long tubular structures called muscle fibres. Dystrophin protein connects the outside, extracellular matrix to
- [Seizing control empowering adults by transforming transition](https://www.actionduchenne.org/seizing-control-empowering-adults-by-transforming-transition/) - Blog by Florence Boulton, National Director Last week I had the opportunity to join our first session in the ‘Yes I can’ transition to adulthood project. Having worked closely with other partner organisations in formulating this much-needed project; leading the team to create the programme and putting in place the tools to enable the team
- [My Dad is..](https://www.actionduchenne.org/my-dad-is/) - This Father’s Day we want to acknowledge all of the amazing dads in our Duchenne community. We are celebrating the Duchenne dads in every and any form; foster dads, adoptive dads, grandfathers, uncles, carers, the memory of Dad's no longer with us and those family friends who become second dads.So, to all of you this
- [Newfound freedom on the South Downs](https://www.actionduchenne.org/newfound-freedom-on-the-south-downs/) - Article written by Albert Wright - Duchenne Dad & Action Duchenne volunteer "We recently acquired the Trekinetic GTE wheelchair. We got this wheelchair earlier than needed, partly in over preparation for the inevitable Duchenne journey myself and my partner will undertake as parents with Zepplin (7 years old). We previously used a manual wheelchair, mainly
- [Impact from the first fortnight on the road](https://www.actionduchenne.org/impact-from-the-first-fortnight-on-the-road/) - What a fortnight we've had! Cambridge, Oxford, Cardiff and Swansea - you've all been wonderful! Alex and Mehreen have loved every second of the first two weeks of our Science on Tour summer road trip. Here's some of the lovely feedback we've received in this short video. If you haven't already, get your free tickets
- [Scrutinising the science of Duchenne](https://www.actionduchenne.org/cambridge-sot/) - Blog by Florence Boulton, National Director Wow, what a day! After months of hard work, we finally pulled out all the stops today, kicking off the first of 24 science education workshops in the scholarly city of Cambridge. I had the pleasure of spending the morning at a very positive meeting with the team at
- [Nationwide researchers announce restoration of full-length Dystrophin in humans](https://www.actionduchenne.org/nationwide-researchers-announce-restoration-of-full-length-dystrophin-in-humans/) - In Duchenne muscular dystrophy, dystrophin protein is absent or partially functional due to mutations in the dystrophin gene. Multiple therapeutic approaches are targeting the mutational defects in Duchenne, one such therapy in development is gene therapy which delivers the corrected gene to enable production of functional dystrophin. Another approach is exon skipping which delivers anti-sense
- [Transformational transition project launches](https://www.actionduchenne.org/transformational-transition-project-launches/) - Action Duchenne are launching an aspirational project, providing young people living with Duchenne with crucial support, training, guidance and friendship in the challenging transition from paediatric to adult care. A decade ago, at diagnosis, Duchenne families were told to “go home and enjoy your child” because the outlook was so bleak. Now life expectancy is
- [Peer-to-peer support - meeting a fellow mom](https://www.actionduchenne.org/meeting-a-fellow-mom/) - This article is written by a Duchenne Mum, Ruth, about her experience with Action Duchenne's peer-to-peer support. When my son was diagnosed with Duchenne, my world changed, during the first few months I needed time to process everything, find the strength to live, work and be a mom. Action Duchenne were there for me, I
- [Lego Quest 2021 winners!](https://www.actionduchenne.org/lego-quest-2021-winners/) - Wow, what a weekend we have had, thank you so much for joining us! We are excited to announce the winners of the Lego Quest 2021, supported by The Paskin Children's Trust Over the past 4 weeks, youngsters from across the Duchenne community, friends, siblings and family have been sending us pictures of the Master
- [LEGO Quest 2021](https://www.actionduchenne.org/lego-quest-2021/) - Calling all LEGO master builders We are super excited to launch the second annual Action Duchenne LEGO Quest. What you need to do Take a look at the list of Quests and prizes belowPick your Quest (it's free to enter and you can take part in as many Quests as you like)Create your buildTake photos of your
- [Launching Riley's film on Rare Disease Day](https://www.actionduchenne.org/we-are-action-duchenne/) - That's when it hits you. Riley can't run, he'll never be able to do that.Lyndsey Kaye, Duchenne Mum At 2 years old, Riley was diagnosed with Duchenne muscular dystrophy, a severe muscle-wasting condition. We are proud to share this moving and uplifting film about Riley and his family to help raise the profile of Duchenne
- [Introducing our London Marathon Heroes](https://www.actionduchenne.org/london-marathon-heroes/) - Article by Victoria Young, Engagement and Support Officer This Sunday 3rd October we have four runners taking on the London Marathon and five taking on the Virtual London Marathon. In this blog we are shining a spotlight on all of them! As a Duchenne parent, following our runners' journey's has been one of the most
- [It's the final countdown!](https://www.actionduchenne.org/its-the-final-countdown/) - Hello again everyone! I’m glad to be back sharing with you my updates and insights from the Conference planning coal-face! The newly diagnosed event was amazing I was super-proud of the team for delivering a brilliant and insightful event for newly diagnosed families on 23 October. When we support newly diagnosed Duchenne families, often from
- [It's Dip Time!](https://www.actionduchenne.org/its-dip-time/) - We want to say a big splashy thank you to Karen and her family for braving the sea on Boxing Day. Their continued support means so much to us. "It's that time of year where I take to the icy waters on Boxing Day in aid of Action Duchenne. this is a charity that our
- [Becoming a foster carer](https://www.actionduchenne.org/becoming-a-foster-carer/) - Article written by Jon Powton, Foster Carer Feeling relevant in a world where being different can feel like a crime is never an easy thing. Wearing the badge of disability can leave a sour taste in your mouth, and this was, in my case, amplified for many years by it being a hidden disability. I
- [Securing the right support for your child in school](https://www.actionduchenne.org/securing-the-right-support-for-your-child-in-school/) - by Rebecca Smith SENCO/INCO Rebecca Smith oversees provision at St. Mary's Primary Academy in Cambridgeshire to ensure that all children within the school are well supported in all aspects of their learning. She coordinates provision for children with Special Educational Needs, including carrying out assessments, planning interventions, supporting the teaching staff and working with parents
- [Celebrating all Duchenne Mums](https://www.actionduchenne.org/celebrating-all-duchenne-mums/) - This Mother's Day we want to acknowledge all of the amazing mums in our Duchenne community. We are celebrating the Duchenne mums in every and any form; foster mums, adoptive mums, grandmothers, aunties, carers, and those family friends who become second mothers. Duchenne mums are living a parenting journey that none of them planned. They
- [2 Years and 26.2 Miles](https://www.actionduchenne.org/2-years-and-26-2-miles/) - Two years ago, a combination of 40th birthdays and "let's do it" had persuaded a group of us who run regularly together to attempt a marathon. We chose Manchester, in part because we knew we could run it together and also because it's flat! We planned, fundraised and trained. And then the week after our
- [Peer-to-peer support - feeling positive for the future](https://www.actionduchenne.org/peer-to-peer-support/) - Article by Sarah | Duchenne Mum After my son was diagnosed last June I started following Action Duchenne on social media. I decided to join a Zoom meeting on the topic of how to talk about DMD with your children. One of the Mums on the call asked a question I was wondering about -
- [DNACPR, choice and living life to the fullest](https://www.actionduchenne.org/dnacpr-choice-and-living-life-to-the-fullest/) - In 2021 Joshua graduated from UCLan with a first-class BA Hons in Film and Media Studies. He has created documentaries, films and is an avid script writer. Joshua shone in the ‘Music and Me’ podcast series hosted by broadcaster and journalist Jonny Gould. During his podcast, Joshua shared his experience of Duchenne and living life
- [Peer-to-peer support - I don't feel so alone anymore](https://www.actionduchenne.org/i-dont-feel-so-alone-anymore/) - This article is written by a Duchenne Mum, Vicki, about her experience with Action Duchenne’s peer-to-peer support. Hi my name is Vicki, I have an 8 year old son with Duchenne. I've found it hard to come to terms with my sons diagnosis, it has been almost 5 years since our Duchenne journey started. When
- [Peer to peer support - Chloe and Lyndsey](https://www.actionduchenne.org/peer-to-peer-support-chloe-and-lyndsey/) - This article is written by Duchenne parents Chloe and Lyndsey who were carefully matched by our Support team. Chloe In Jan 2021 we officially had our son's Duchenne diagnosis. When I found a time when I could actually talk about it I can across some amazing communities and people who have helped me to understand
- [Paid role with RS Components](https://www.actionduchenne.org/paid-role-with-rs-components/) - A global company RS Components has approached us as they’d like to encourage people living with Duchenne to apply for a content role with them. This is a paid role, working remotely or in the office (depending on your preference and location). The role is a 6 month contract, and from speaking with the team
- [Edgewise-funded natural history trial of Becker Muscular Dystrophy (BMD) now enrolling](https://www.actionduchenne.org/edgewise-funded-natural-history-trial-of-becker-muscular-dystrophy-bmd-now-enrolling/) - Edgewise Therapeutics has announced the start of an observational trial in participants with Becker Muscular Dystrophy (‘BMD’)) as assessed by functional measures and imagining endpoints. This global, multi-center trial is led by the GRASP (General Resolution and Assessments Solving Phenotypes) consortium and Virginia Commonwealth University (VCU), in collaboration with ImagingDMD University of Florida (UF). The
- [Pfizer to re-start its global Phase 3 Trial of Investigational Gene Therapy for Ambulatory Patients with Duchenne Muscular Dystrophy](https://www.actionduchenne.org/pfizer-to-re-start-its-global-phase-3-trial-of-investigational-gene-therapy-for-ambulatory-patients-with-duchenne-muscular-dystrophy/) - Pfizer has announced on 28 April 2022 they have received approvals to re-start the Phase 3 study evaluating their gene therapy for Duchenne muscular dystrophy in several countries, including the UK, and that the clinical hold in the US has been lifted by the FDA. Following the lift of the clinical hold, Pfizer is now
- [Science on Tour - a parent's perspective](https://www.actionduchenne.org/science-on-tour-a-parents-perspective/) - By Jess Breeze, Duchenne mum Our first step into the community My husband and I attended a Science on Tour session shortly after we received our daughter’s diagnosis as a Manifesting Carrier of Duchenne. We knew very little about the condition and even less about the impact on females. I can’t even remember now how
- [Digby receives his copy of The Abilities in Me DMD Book](https://www.actionduchenne.org/digby-receives-his-copy-of-the-abilities-in-me-dmd-book/) - Over the past few weeks, we have been able to send 40 of our families a free copy of The Abilities in Me Duchenne muscular dystrophy book, thanks to the wonderful author Gemma Keir. One family shared with us the impact the book has already had on them. "We are all in love with the
- [Project update: Supporting families through diagnosis and impossible decisions](https://www.actionduchenne.org/project-update-supporting-families/) - How we’re supporting Newly Diagnosed Duchenne families through the diagnosis and the impossible decisions they are forced to make. The last year has seen huge transformations for us all. This time a year ago we were just emerging from the 3rd national lockdown still very unsure of what the future would look like, and with
- [That word...Hospice](https://www.actionduchenne.org/that-word-hospice/) - Article by Ashley Lawmon, Duchenne Mum If you're anything like me this word fills you with dread and fear. I put that conversation off for years! The picture I had in my head was SO different from what it is. Obviously, there is a very serious and sad side to going or needing a hospice
- [Limitations...](https://www.actionduchenne.org/limitations/) - Article by Duchenne Mum Ashley Lawmon Who here has been told that your child won't do this and won't do that? Because I know I did. He won't jump, run, walk past the age of 9, ride a bike, skip or live independently. Proving them wrong Well, he has! Children do not understand the limits
- [WIN AN EASTER HAMPER!](https://www.actionduchenne.org/win-an-easter-hamper/) - With spring in the air and Easter just around the corner, we are excited to share our EGGS-tra special Easter giveaway! To win an Easter Hamper (like the one pictured) worth £100 to enjoy with your friends and family. To be in with a chance of winning all you have to do is DONATE £10
- [Annual General Meeting](https://www.actionduchenne.org/annual-general-meeting/) - On Wednesday 16 March 2022 at 17:00 we had the pleasure of welcoming the Action Duchenne Members, Trustees and team to our Annual General Meeting. The purpose of a charity’s AGM is to give Members the opportunity to vote on business items on the agenda, to ask questions and to find out more about the
- [Grief and bereavement webinar](https://www.actionduchenne.org/grief-and-bereavement-webinar/) - We know how hard it is for parents, carers and family members to understand and process anticipatory grief when they receive the diagnosis of Duchenne muscular dystrophy. To help you and your family understand more about your feelings and thought processes, we are proud to share the webinar recording with crisis and bereavement expert Dr
- [Newly diagnosed event - watch recordings](https://www.actionduchenne.org/newly-diagnosed-event-watch-recordings/) - We were delighted to welcome so many families from across the globe to our virtual event for newly diagnosed families or those who are newcomers to the Action Duchenne International Conference. We have received amazing feedback and we are so pleased you found the sessions so helpful. We recorded the entire afternoon's sessions; Duchenne 101,
- [How to talk to your child about Duchenne - the early years](https://www.actionduchenne.org/how-to-talk-to-your-child-about-duchenne-the-early-years/) - We know how hard it is for Duchenne parents, carers and family members to find the ‘right’ words to talk with children about Duchenne muscular dystrophy. Watch the recording of our session with crisis and bereavement expert, Dr David Schonfeld from March 2022. The session will help you and your family find the words, and
- [Springing into action](https://www.actionduchenne.org/springing-into-action/) - A message from our National Director, Florence Boulton It was 2 years ago when I first joined my new team around a table in a meeting room in Shoreditch. It was the AGM 2020 and it was my first day at Action Duchenne. I was excited to be taking on the new challenge, and raring
- [International Conference and community](https://www.actionduchenne.org/international-conference-and-community/) - Blog by Florence Boulton, National Director - written in Cambridge just after we finished delivering the Action Duchenne International Conference 2021. After months of planning and working with our speakers, partner organisations, pharmaceutical companies, exhibitors and our Duchenne families, we successfully delivered our 20th International Conference to over 400 people/families from more than 40 countries on
- [Farewell 2021, welcome 2022](https://www.actionduchenne.org/impact-2021-plans-2022/) - A message from our National Director, Florence Boulton Another year has flown by! A very Happy New Year to all my colleagues, partners, families and the whole Duchenne community; thank you for having Action Duchenne alongside you this year. I hope that 2022 brings you 12 months of success, 52 weeks of laughter, 365 days
- [My first month at Action Duchenne](https://www.actionduchenne.org/my-first-month-at-action-duchenne/) - When the National Director role at Action Duchenne came up last November and I started reading about all the work the charity does, it was inspiring to hear about the real difference the charity is making. Meeting families, trustees and team members at the International Conference, gave me a great insight into the activities. I
- [Supporting you as the world re-opens](https://www.actionduchenne.org/supporting-you-as-the-world-re-opens/) - A message from the National Director, Florence Boulton Lock-down has been a time of grief for many, losing loved ones at a time when we are unable to grieve in the traditional way. Families in the Duchenne community have talked to us about a feeling of loss in their lives; from loss of function in
- [Summer ‘holiday’ after lock-down](https://www.actionduchenne.org/summer-holiday-after-lock-down/) - A message from the National Director, Florence Boulton At the start of what would normally be the season for summer ‘holidays’, my thoughts go to families in the Duchenne community who have been shielding and who continue to shield. We have heard from our families that many of you have struggled with balancing PAs/care, home-schooling,
- [Taking action and making an impact](https://www.actionduchenne.org/taking-action-and-making-an-impact/) - A message from the National Director, Florence Boulton This week and next, many of our families are feeling a mix of emotions, as they send their children and young people back to nursery, school, college and university. We have heard from you that although many of you are excited at the prospect of ‘normality’ returning,
- [Recognising the power of our community](https://www.actionduchenne.org/recognising-the-power-of-our-community/) - A message from the National Director, Florence Boulton The past four weeks, since I last wrote to you all, has been a rollercoaster of extreme highs and terrible lows. We have learnt of the sudden passing of another young person living with Duchenne and on behalf of the entire team I wish to send condolences
- [I have so much to share with you](https://www.actionduchenne.org/i-have-so-much-to-share-with-you/) - A blog by National Director, Florence Boulton ….and we’re back down to earth after the crazy (but exciting) weeks in the run up to our 2020 International Annual Conference (‘the Conference’), and of course the weekend itself! I was so delighted to welcome over 700 registrants from over 50 countries across the world over the
- [Holidays after lockdown](https://www.actionduchenne.org/holidays-after-lockdown/) - A blog by Florence Boulton, National Director (Robin by Duchenne Grandad, Julian Smith jpsart.net) As the nights are drawing in and the temperature is falling, we are approaching a unique festive season this year. Many of you have felt the strain of the second lockdown, perhaps due to the darker days, or the psychological effects
- [What a difference a year makes](https://www.actionduchenne.org/what-a-difference-a-year-makes/) - Blog by Florence Boulton, National Director This month marks the anniversary of the day I joined Action Duchenne. I remember it well, at the Annual General Meeting, I met the wonderful team again, the dedicated trustees and heard about our plans for 2020 and beyond. Little did we know that weeks later, the UK would
- [My first two magical weeks at Action Duchenne](https://www.actionduchenne.org/my-first-two-magical-weeks-at-action-duchenne/) - By Victoria Young If you had told me 8 months ago that I would be a Support and Engagement Coordinator at Action Duchenne I really wouldn't have believed you. First of all I had never heard about Duchenne until the 21st July 2020 when I was told that my son, Dougie, was very likely to
- [A message from Florence Boulton on Rare Disease Day 2021](https://www.actionduchenne.org/a-message-from-florence-boulton-on-rare-disease-day-2021/) - Dear International Duchenne Community, Today, we take a moment from our daily lives to raise awareness about our community and share what it means to live with a rare syndrome or disease. Over the last 12 months I have had the opportunity to work with a team of amazing health professionals and partner organisations to
- [Uplifting and empowering](https://www.actionduchenne.org/uplifting-and-empowering/) - By Florence Boulton, National Director This month seems to have been action packed for us here at Action Duchenne. You would think that after a year at the helm here, I would be accustomed to the constantly evolving and growing that we are doing as an organisation. However, I am still in awe of the
- [Unfurling after the storm](https://www.actionduchenne.org/unfurling-after-the-storm/) - Before I start my usual blog this month, I wanted to acknowledge a Duchenne family who have been through immeasurable devastation this week. On behalf of the entire Action Duchenne team, I send light, love and strength to you all. Volunteers Last week, we celebrated Volunteers’ Week by sharing a number of quotes from our
- [Fond farewells, thank yous and future plans](https://www.actionduchenne.org/august-21-blog/) - Blog by Florence Boulton, National Director Welcome to this month’s blog, the most part written during our steaming hot heat-wave, and most recently in what feels more like Autumn than August! Summer certainly arrived in style, with the children breaking up for the holidays amidst record temperatures, after a challenging year. Many of you have
- [A weekend to remember](https://www.actionduchenne.org/a-weekend-to-remember/) - Last weekend, I had the utter privilege of travelling to Northern Ireland to visit one of our incredible Duchenne families and their community of supporters. Sam and I were given an exceptionally warm welcome into the loving home of the O'Doherty family from Derry and were proud to be welcoming their family GP, Dr Gavin
- [Happy Holidays from our National Director](https://www.actionduchenne.org/happy-holidays-from-our-national-director/) - It’s beginning to look a lot like Christmas! This week, we’ve launched our Action Duchenne Santa’s Grotto; a little thank you to our community and a chance for families to come together online and visit Father Christmas. Last year, the feedback was so wonderful, we just knew we had to do it again this year!
- [Join Dr. David Schonfeld Webinars](https://www.actionduchenne.org/join-dr-david-schonfeld-webinars/) - How to talk to children about Duchenne - the early years We know how hard it is for Duchenne parents, carers and family members to find the 'right' words to talk with children about Duchenne muscular dystrophy. To help you and your family find the words, and to understand more about yours and your child's
- [Friday Hive blog by Sam](https://www.actionduchenne.org/friday-hive-blog-by-sam/) - During Spring and Summer 2020, I personally spoke to over 2,000 Duchenne families, offering each of them bespoke care and support to suit their individual needs. It was one of my greatest personal and professional achievements. I was so proud to give my heart and soul to so many people, helping them share their worries
- [Joint MDUK and Action Duchenne webinar with NICE and Translarna survey 2022](https://www.actionduchenne.org/joint-mduk-and-action-duchenne-webinar-with-nice-and-translarna-survey-2022/) - This year the National Institute of Health and Care Excellence (NICE) is conducting its final appraisal of Translarna (also called ataluren). This process will decide whether the treatment is made available on the NHS once the current Managed Access Agreement (MAA) comes to an end in January 2023. Action Duchenne worked in partnership with Muscular
- [Gene therapy trial shows ‘statistically significant’ improvements](https://www.actionduchenne.org/gene-therapy-trial-shows-statistically-significant-improvements/) - Sarepta Therapeutics have announced the audited, quality-controlled data reflecting all results from Part 2 of their Study SRP-9001-102 (Study 102). This study is an ongoing, randomised, double-blind, placebo controlled clinical trial. Study 102 is evaluating the safety, efficacy and tolerability of a single dose of an investigational gene transfer therapy called SRP-9001. There are 41
- [End of project report summary - Clinical Trials Lectureship (Newcastle)](https://www.actionduchenne.org/end-of-project-report-summary-clinical-trials-lectureship-newcastle/) - We are delighted to report the outcomes of our grant for a Clinical Trials Lectureship. The grant, which was supported by a consortium of seven UK charities, saw Action Duchenne joined by Alex’s Wish, Duchenne Research Fund, Duchenne Now, Duchenne UK, Harrison’s Fund and Joining Jack, to invest a total of £250,000. Action Duchenne are
- [Action Duchenne brings Christmas magic to Duchenne families](https://www.actionduchenne.org/action-duchenne-brings-christmas-magic-to-duchenne-families/) - On 17th December 2021, UK charity Action Duchenne, with support from Sporting Bears, brought light, hope and Christmas magic to 32 families living with Duchenne Muscular Dystrophy. They were invited to attend an amazing “Virtual Santa’s Grotto” with Father Christmas and his Elves, joining other families in the online event. The Grotto looked magical, Santa
- [Behind the scenes at Action Duchenne’s Santa’s Grotto](https://www.actionduchenne.org/lynnettes-blog/) - This time last year, I was proudly clicking ‘share’ on the impact report for our 2020 Christmas Campaign. We’d sprinkled a touch of magic at a time when it was not safe or possible for Duchenne families to meet Father Christmas in person. And it was a huge success! I knew, this year, that we
- [Fundraising total announced for GP's epic 362 mile run](https://www.actionduchenne.org/dr-gavin-fundraising-total/) - This week, Duchenne family and long-standing Action Duchenne supporters, the O'Doherty's of Derry, Ireland announced they have raised an incredible total of £21,650 following Dr Gavin McAteer's Mizen to Malin Head challenge in September 2021. An inspiring team The epic journey of 362 gruelling miles saw Dr Gavin running over 40 miles each day, accompanied
- [Long-standing Trustee launches charity album](https://www.actionduchenne.org/charity-album-launch-2/) - ACTION Duchenne’s longest-serving Trustee, Mark Silverman, has today launched his lock-down inspired album ‘Markin’ Time’. Taking vocals for the first time, seasoned musician Mark treats the listener to a journey through some of his personal favourite tracks. Featuring new recordings of classic songs by legends David Bowie, Nina Simone, Elton John, Carole King and Leonard
- [Charity album coming soon](https://www.actionduchenne.org/charity-album-launch/) - We are so excited to announce the launch of Markin' Time, Mark Silverman's debut solo album! In 2020 during the first lockdown, our Trustee Mark Silverman decided to put his time spent indoors creating, in collaboration with Engineer/Producer Thomas Maher, the groundwork for 10 cover songs that inspired him over the years. Artists featuring on
- [Launching new 'Music & Me' podcast](https://www.actionduchenne.org/launching-new-music-me-podcast/) - Our new podcast, 'Music & Me' is an interview series featuring talented musicians from across all genres. Broadcaster and proud Ambassador, Jonny Gould is at the helm and takes you on a journey with the musicians, each of whom live with Duchenne muscular dystrophy. Episode 1 First up is Indy Rock guitarist and lead singer
- [Indoor Skydive](https://www.actionduchenne.org/indoor-skydive/) - This Christmas I wanted to make sure my son Dougie and his younger sister, Allie, were given the gift of an amazing experience. On Christmas Day they opened an envelope to see an indoor skydiving experience with iFLY. They were so very excited, and to see the joy in their smiles is a memory I
- [Innovative and sustainable FAIR solution for Duchenne Data Platform](https://www.actionduchenne.org/innovative-and-sustainable-fair-solution-for-duchenne-data-platform/) - Duchenne Parent Project in the Netherlands announced that their patient-led online registry (The Duchenne Data Platform) has successfully deployed an innovative and sustainable FAIR solution, achieving a FAIR status. We are delighted to hear our partners in the Netherlands have achieved the first ever FAIR status for their data platform. Furthermore, Action Duchenne are currently deploying
- [Book giveaway for newly diagnosed families](https://www.actionduchenne.org/book-giveaway-for-newly-diagnosed-families/) - Thanks to the amazing Gemma Kier, author of The Abilities in Me Children's Book Series, we are delighted to be able to send this amazing book out to some of our families who we support. "I thought this book was really lovely. The pictures were colourful and creative"Dougie Young, age 8, living with Duchenne We
- [Dyne Therapeutics announce application to start exon 51 skipping clinical trial](https://www.actionduchenne.org/dyne-therapeutics-announce-application-to-start-exon-51-skipping-clinical-trial/) - Dyne Therapeutics, Inc. announced on 2nd December 2021 the submission of an Investigational New Drug (IND) application to the U.S. Food and Drug Administration (FDA) to initiate a clinical trial of DYNE-251 in patients with Duchenne muscular dystrophy (DMD) amenable to skipping exon 51. Dyne expects to begin dosing patients in clinical trials for DMD
- [Santhera and ReveraGen announce positive topline results with Vamorolone after completion of the Vision_DMD Study](https://www.actionduchenne.org/santhera-and-reveragen-announce-positive-topline-results-with-vamorolone-after-completion-of-the-vision_dmd-study/) - Action Duchenne is pleased to share the announcement from Santhera Pharmaceuticals and ReveraGen BioPharma, Inc., of new results after completion of the VISION-DMD study at week 48. Read Santhera's letter to the community VISION-DMD was a pivotal double-blind Phase 2b study designed to demonstrate efficacy and safety of vamorolone compared to placebo and prednisone (active
- [ReveraGen receives FDA fast track designation for Vamorolone](https://www.actionduchenne.org/reveragen-receives-fda-fast-track-designation-for-vamorolone/) - This designation can speed the review of efficacy and safety data for vamorolone in boys living with Duchenne, potentially leading to more rapid regulatory approval.
- [World Toilet Day 2021](https://www.actionduchenne.org/world-toilet-day-2021/) - Who cares about toilets? 3.6 billion people do. Because they don’t have one. Today, nearly half the world’s population live without a 'safely managed sanitation service': a toilet, not shared with other households, that either treats or disposes of human waste on site, stores it safely to be emptied and treated off-site, or connects to
- [Conference agenda, brochure and joining instructions](https://www.actionduchenne.org/conference-agenda-and-joining-instructions/) - We are looking forward to welcoming you to this year's Conference. Flexibility The flexibility of the online platform means you can dip into the sessions which most interest you, and the brand new technology means a more user-friendly and immersive experience for you; We go LIVE at 10:00 GMT Saturday 13 and Sunday 14 NovemberRegister once to access all the
- [Action Duchenne International Conference embodies powerful Duchenne community](https://www.actionduchenne.org/conference-2021-press-release/) - OVER the weekend of 13 and 14 November 2021, Action Duchenne welcomed families, researchers, clinicians and pharmaceutical companies from across the world. With registrations from 400 people from 40 countries, the charity provided a varied agenda, interactive network space and evening social opportunities. Over the seven sessions, each lasting two hours, the exquisitely chosen panels
- [Register for the virtual conference 2021](https://www.actionduchenne.org/registration-is-now-open-for-adconf21/) - Following the success of last year's virtual event, this year’s Action Duchenne International Conference will again take place virtually on 13 and 14 of November 2021. Our International Conference brings together Duchenne families, clinicians, therapists, researchers, pharmacological companies and, most importantly, those living with Duchenne muscular dystrophy from across the globe. Learning together We'll be
- [Lottery backs ‘All-through Support’ for Duchenne](https://www.actionduchenne.org/action-duchennes-support-project-receives-lottery-funding/) - ON this World Duchenne Awareness Day, we are very pleased to announce that The National Lottery Community Fund has chosen to support our much-needed 'All-through Support’ project. Following diagnosis, individuals and families embark on their Duchenne journey. Along that journey there are significant gaps in the support available to young people, adults and families as
- [TREAT-NMD Statement on Stem Cell Tourism](https://www.actionduchenne.org/treat-nmd-statement-on-stem-cell-tourism/) - We receive many questions from families who are interested in stem cell therapy as a potential treatment for Duchenne. Today, Treat-NMD (an organisation that represents neuromuscular clinicians and researchers from around the world) has released a statement about the "treatments" that some clinics abroad might offer to people living with Duchenne: "There is a great unmet
- [Budget Statement 2021 - Home adaptations uncertainty](https://www.actionduchenne.org/budget-statement-2021-home-adaptations-uncertainty/) - For families living with Duchenne, adapting our homes to ensure that they are suitable our children and young people is a huge and often overlooked issue. Housing adaptions present enormous logistical and financial stress for families already dealing with the complications of Duchenne. Many of the families in our community and in the wider disability
- [We are together, with you](https://www.actionduchenne.org/we-are-together-with-you/) - “Holding it together when I was speaking at the Newly Diagnosed family event” was one of my colleague’s proudest accomplishments this week. We were talking as a team in our weekly meeting and it really struck a chord with me. In our support roles, here at Action Duchenne, the team (myself included) speak with hundreds,
- [Harry Hill invites you to our online event](https://www.actionduchenne.org/invitation-from-harry-hill/)
- [Project that aimed to combine stem cell and CRISPR technology is a success](https://www.actionduchenne.org/project-report-combining-stem-cell-and-crispr-technology/) - We’re delighted to report the successful completion of our research project in Dr Yung-Yao Lin’s laboratory at Queen Mary University of London. The researchers aimed to combine stem cell and gene editing technology to make a system that allows them to study the junction between nerve and muscle cells in Duchenne in the laboratory. The
- [Newly diagnosed event agenda and joining instructions](https://www.actionduchenne.org/newly-diagnosed-event-agenda-and-joining-instructions/) - We are looking forward to welcoming you to the online support and information event THIS Saturday 23 October from 14.00 - 18.00 (GMT). This event is aimed at people who are new to the Duchenne community in the past few years. We'll be giving a really good overview of Duchenne in a warm, welcoming and
- [Sam's 2nd Conference blog](https://www.actionduchenne.org/sams-2nd-conference-blog/) - Hi everyone! It’s been wonderful to see all your registrations coming through this week for the pre-conference event for Newly Diagnosed families and for the main Conference! We’ve had registrations from the four corners of the world, and we’re so looking forward to bringing each and every one of you the most amazing content, knowledge
- [Sam's Conference blog](https://www.actionduchenne.org/sams-conference-blog/) - A big welcome to you all! This is my first blog piece in the run up to the Action Duchenne International Conference! Many of you will know that I’m not one to step into the spotlight, but as proud Project Manager for this event for the second year in a row, I wanted to share
- [Brain Involvement in Dystrophinopathies (BIND) Study](https://www.actionduchenne.org/brain-involvement- in-dystrophinopathies-bind-study/) - BIND is a large-scale study involving six European countries (Denmark, France, Italy, Spain, The Netherlands, UK), with the aim of assessing the association between dystrophin isoforms and certain behaviours in patients with Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). The UCL Great Ormond Street Institute of Child Health and the Newcastle upon Tyne
- [September Fundraising Round Up](https://www.actionduchenne.org/september-fundraising-round-up/) - September has been an absolutely amazing month for #TeamAD! Mudder in memory of Thomas The start of September was a muddy one! Adam and Conor took on the Tough Mudder Classic 10 miler on the 3rd September in memory of their friend and brother Thomas Mickleburgh. If you are interested in getting a place at
- [13 year old receives scouting award for dedication, courage and determination](https://www.actionduchenne.org/13-year-old-receives-scouting-award-for-dedication-courage-and-determination/) - We are proud to share the news that Kiran Rowntree, from Sheffield, has received a rare award from the Chief Scout, Bear Grylls. Here is the moment the 13 year old, who has been commended for his courage, determination and dedication to scouting received the ‘Cornwall Scout Award’ this week. Kiran’s proud parents, Penny and
- [Community celebrates GP’s epic 362 miles in 6 days](https://www.actionduchenne.org/community-celebrates-gps-epic-362-miles-in-6-days/) - This weekend marked the culmination of months of planning and preparation by the dedicated community around Niall, Deborah and Kevin O’Doherty from Derry, Northern Ireland. Florence, our National Director and Sam, our Operations Manager were privileged to join the O’Doherty family and their community, in celebrating the final leg of local GP, Dr Gavin McAteer’s
- [Your invitation to the newly diagnosed Duchenne family event](https://www.actionduchenne.org/your-invitation-to-the-newly-diagnosed-duchenne-family-event/) - Taking place online on Saturday 23rd October 2021 from 14:00 - 18:00 GMT, this event is a chance for families who are new to the Duchenne community to find out everything you need to know, before the main Action Duchenne Conference in November. Tickets are free for all UK and International Duchenne families and their
- [Your invitation to our 20th Conference](https://www.actionduchenne.org/your-invitation-to-our-20th-conference/) - Florence, National Director of Action Duchenne invites you to register for this year's Conference Register below for this year's Action Duchenne International Conference on the weekend of 13th and 14th November 2021. Register here
- [610km cycle across Ireland and Northern Ireland](https://www.actionduchenne.org/610km-cycle-across-ireland-and-northern-ireland/) - On the 17th and 18th July, John O’Brien is cycling from Mizen Head to Malin Head. A journey of 610km. He is taking on the challenge to raise money for Action Duchenne and Join Our Boys – another charity dedicated to raising awareness of Duchenne muscular dystrophy. It will be tough but we have been training very
- [World Duchenne Awareness Day 2021](https://www.actionduchenne.org/world-duchenne-awareness-day-2021-theme-announced/) - September 7 is World Duchenne Awareness Day. On this day we join the international Duchenne community to raise the profile and awareness of the condition. This year's special theme is ‘Adult Life & Duchenne’. On September 7, the World Duchenne Organization will be hosting an online event. During this event, experts share their stories and experiences surrounding Duchenne
- [Farewell and thank you to Zac Fargher](https://www.actionduchenne.org/farewell-and-thank-you-to-zac-fargher/) - It was with some sadness that we announce our trustee, Zac Fargher, has resigned from his position on the Board, and will be leaving the UK in August, to return to New Zealand. On behalf of the staff and trustees, we would like to take this opportunity to thank Zac for the enormous contribution he
- [100km for Ellie, James and Action Duchenne](https://www.actionduchenne.org/100km-for-ellie-james-and-action-duchenne/) - Matthew Deeming loves his running. This year he wanted to set his most ambitious goal yet by aiming to run the Northumberland Coastal Path in its entirety from South to North, from Cresswell to Berwick upon Tweed. The route is around 100km (62 miles) in total and, to the knowledge of himself and the communications
- [Trudi's 50th Birthday Skydive for Action Duchenne](https://www.actionduchenne.org/trudis50thbirthdayskydive/) - In 2020 Trudi's husband, Steve, bought her a tandem skydive as a present for her 50th birthday. Due to Covid restrictions she had to put it off. She had it arranged for Saturday 10th July, but due to weather conditions it was delayed again. Finally, on Saturday 17th July the sun came out and the
- [Making a difference](https://www.actionduchenne.org/making-a-difference/) - It’s not all marathons and mountain climbing, the little things make a big impact too! Thanks to Jess Breeze (Action Duchenne volunteer and Mum to Wren who is a manifesting carrier of Duchenne) along with oldest daughter Lyla for raising £123 by holding a pre-house move yard sale. All proceeds went to the Action Duchenne,
- [Action Duchenne receives funding for ground-breaking transition project](https://www.actionduchenne.org/demelza-funds-transition-project/) - We are delighted to share the news with our community that the award-winning Demelza Children's Hospice have chosen us as their partners to deliver an important project. About the project The project will see Action Duchenne working in partnership with Demelza to fully catalogue the needs and requirements of our young adults living with Duchenne
- [Early heart medication](https://www.actionduchenne.org/early-heart-medication/) - A blog by Lyndsey Kaye | Admin Volunteer | Duchenne Mum Thump-thump, thump-thump, thump-thump…. the sound of a heartbeat. It reassures us that everything is alright, doesn’t it? Not always. A scare before he was even here When I was in the early stages of my pregnancy with Riley, I had an emergency scan at
- ['Tyre-man' Duchenne Dad faces the impossible](https://www.actionduchenne.org/tyre-man-duchenne-dad-faces-the-impossible/) - By Alexis Ellison | Duchenne Dad | serial fundraiser It is done! 24hrs and over 40miles pulling and carrying a 10kg tyre and chain.I'm really not quite sure where to start. I'll try and keep this as short as I can. Firstly, a huge thank you to everyone who has supported and encouraged me to
- [Head of Fundraising and Partnerships](https://www.actionduchenne.org/head-of-fundraising-and-partnerships/) - General summary Action Duchenne was established in 2001 as the first national charity dedicated to supporting young people, adults and their families living with Duchenne muscular dystrophy. 87p in every £1 we raise is invested in charitable activities; ground-breaking research, world-class educational and support programmes and life-changing campaigns. We are looking to appoint a dynamic
- [Giving back in honour of Thomas](https://www.actionduchenne.org/giving-back-in-honour-of-thomas/) - When Thomas was around 7 years old, Adam remembers him having his appendix out. Adam arranged for a card to be signed by the whole school to wish him a healthy return to the school. Ever since then they did everything together and over the course of around 17 years they grew to be more
- [Duchenne Dad to pull tyre for 24 hours](https://www.actionduchenne.org/duchenne-dad-to-pull-tyre-for-24-hours/) - A resounding good luck and thank you to serial fundraiser and Duchenne Dad, Lex Ellison who is taking part in the Endure 24 running challenge in Leeds this weekend. It's Lex's first challenge since going into lockdown, and he's hitting it hard - pulling a a car tyre along the road behind him, attached to
- [Shining a spotlight on Gavin McAteer](https://www.actionduchenne.org/shining-a-spotlight-on-gavin-mcateer/) - The Challenge Gavin McAteer, with the aid of his two man support team, will run the entire length of Ireland solo, starting in Mizen, the most northerly point and finishing in Malin, the most southerly point of Ireland. Gavin aims to complete the 360 mile challenge in just 6 days, covering a whopping 60/70 miles
- [Duchenne siblings, we see you](https://www.actionduchenne.org/duchenne-siblings-we-see-you/) - A blog by Lyndsey Kaye, Duchenne Mum "Today is my eldest son’s 15th birthday, and it has made me reflect somewhat and come to a bit of a realisation. When as parents/carers we are given the frankly earth-shattering diagnosis of Duchenne for our child, life changes in a nanosecond. For that child, for us, absolutely,
- [Action Duchenne receives peer-to-peer support grant](https://www.actionduchenne.org/action-duchenne-receives-peer-to-peer-support-grant/) - The hundreds of children, young people and adults living with Duchenne muscular dystrophy (DMD) in the United Kingdom and their families face many challenges which have been exacerbated by COVID-19 and lock-down. At a time when many people in the general population are re-emerging from the past 18 months of lock-down, the lasting effects of
- [Dad completes amazing endurance event challenge for Action Duchenne](https://www.actionduchenne.org/dad-completes-amazing-endurance-event-challenge-for-action-duchenne/) - Dan Brown has been running endurance events since January last year to raise money for Action Duchenne. On 5th June he completed his last endurance event - running 40 miles in a 24 hour race. In August of 2019 our 4 year old son Teddy was diagnosed with this condition. Confusion, extreme sadness and loss of
- [Action Duchenne’s chance to win £1,000](https://www.actionduchenne.org/action-duchennes-chance-to-win-1000/) - Action Duchenne is asking for nominations to win a £1,000 Movement for Good award from Ecclesiastical Insurance Group. Action Duchenne is encouraging people to nominate them for a chance to win £1,000 as part of specialist insurer Ecclesiastical's Movement for Good awards, which is giving £1million away to charities this summer. It’s quick and easy
- [Edinburgh Marathon 'Running for a cure'](https://www.actionduchenne.org/edinburgh-marathon-running-for-a-cure/) - On Sunday 30th May Ian is running the Edinburgh Marathon for Action Duchenne. Ian has been inspired to run 26.2 miles after seeing the challenges and triumphs his friends son, who lives with Duchenne muscular dystrophy, has encountered over the years. Luke's dream is to be able to do all of those things that everyone
- [National Volunteers Week – a time to say 'thank you'](https://www.actionduchenne.org/national-volunteers-week-a-time-to-say-thank-you/) - This is a special week to celebrate and say a huge heartfelt thank you to all of our fabulous compassionate volunteers who give some much of their time to Action Duchenne. National Volunteers Week is all about recognising the fabulous contribution volunteers make. Action Duchenne is just one of many charities who rely heavily on
- [Edinburgh Marathon 'Our run for Ben'](https://www.actionduchenne.org/edinburgh-marathon-our-run-for-ben/) - I took up running, as a kind of therapy, shortly after Ben died. I was kind of cajoled on by colleagues who had run the London Marathon in April 2019. They have since left my organisation and I have pretty much done all my training over the last two years on my own – pushed
- [Duchenne Nana walks 100 miles](https://www.actionduchenne.org/duchenne-nana-walks-100-miles/) - A big congratulations to Linda Smith for completing her 100 mile walking challenge this week! She set herself the challenge to raise money for Action Duchenne, in the place of people giving her birthday cards and presents. Linda is a dedicated Duchenne Nana, a great lover of walking, nature and the outdoors. Despite this being
- [Q&A on the Managed Access Agreement (MAA) for Translarna/ataluren in England](https://www.actionduchenne.org/qa-on-the-managed-access-agreement-maa-for-translarna-ataluren-in-england/) - Translarna/ataluren is used to treat Duchenne muscular dystrophy that is caused by nonsense mutations. Translarna is currently accessed in England on the NHS under what is known as a Managed Access Agreement (MAA). These agreements between NHS England, NICE, and a drug manufacturer allows patients to receive treatments with promising potential while further data is
- [An amazing 10 in 10 for Action Duchenne](https://www.actionduchenne.org/an-amazing-10-in-10-for-action-duchenne/) - For the last 10 days Samantha Lews has run 10km every day! Her reason for running is her friends son Lewis, who is 13 and lives with Duchenne Muscular Dystrophy. He is an an avid gamer with a particular love of “Mine Craft”. Action Duchenne have supported Lewis and his family since his diagnosis, providing
- [Update on Translarna NHS treatment for Duchenne muscular dystrophy](https://www.actionduchenne.org/update-on-translarna-nhs-treatment-for-duchenne-muscular-dystrophy/) - NICE has today announced that the Managed Access Agreement (MAA) for the drug Translarna has been extended until January 2023. The extension means that Translarna will continue to be available on the NHS. Translarna can help treat cases of Duchenne muscular dystrophy that are caused by nonsense mutations. Any new patients in England who are
- [Victoria's blog: Congratulations and THANK YOU to our Captain Tom 100 Heroes](https://www.actionduchenne.org/victorias-blog-captain-tom-100-heroes/) - Last weekend our Captain Tom 100 Heroes took on some very special challenges to help raise money for Action Duchenne. Mary Down, whose grandson Seth lives with Duchenne muscular dystrophy, sold many lovely plants, cakes, biscuits and preserves. Everything looked absolutely fantastic! Sign Solutions took on a sign language challenge. One of their team member’s
- [Alex James release new single](https://www.actionduchenne.org/alex-james-release-new-single/) - The phenomenal North-East based alternative indie-rock band, Alex James, are set to make an unprecedented return, following the success of their debut single 'Direction' released in May 2020. It’s been a long year, but Alex James is more than ready to wheel onto that stage and give the people a show – Alex James A
- [In just 7 weeks, we'll be on the road again](https://www.actionduchenne.org/name-our-gene-therapy-demonstration/) - Duchenne Science on Tour 2 Where we'll be helping our families to make informed choices around really complex things like gene therapy and exon skipping as well as clinical trials, steroids, genetics and carrier testing. New content, venues and activities Run by Neil, our expert science communicator and our Support Officers, you will spend your
- [Shining a spotlight on Harry and Ben](https://www.actionduchenne.org/shining-a-spotlight-on-harry-and-ben/) - Over the coming months we'll be sharing the stories of our incredible virtual and in person London Marathon runners. We are delighted to introduce our awesome father-son duo Ben and Harry... Harry (age 4) and I will be doing the Virtual London Marathon in October. Its been 32 years since I ran the London Marathon,
- [Translarna accepted by Scottish Medicines Consortium](https://www.actionduchenne.org/translarna-accepted-by-scottish-medicines-consortium/) - A drug called Translarna can help treat an underlying condition of Duchenne muscular dystrophyAction Duchenne, Duchenne Family Support Group, Muscular Dystrophy UK and Duchenne UK appeared before the Scottish Medicines Consortium in MarchThe Scottish Medicines Consortium has accepted the drug for use on NHSScotland over the next three yearsThe drug company must now submit a
- [Treasuring each day](https://www.actionduchenne.org/treasuring-each-day/) - By Scott Turnbull. When Oakley was diagnosed with DMD we were looking at possible autism or ADHD as he was not meeting milestones. At 3 years old we were noticing that he wasnt doing a lot of the things that a child of 3 years old does, i.e. climbing, jumping and general running around. We
- [Public statement from NICE](https://www.actionduchenne.org/public-statement-from-nice/) - Action Duchenne and MDUK have received the following public statement from NICE which we can share with the community: "The Managed Access Agreement (MAA) for ataluren (Translarna) for treating Duchenne muscular dystrophy with a nonsense mutation in the dystrophin gene is scheduled to end in July 2021. NICE, NHS England and NHS Improvement and PTC
- [How on earth have we done a year in lockdown?](https://www.actionduchenne.org/how-on-earth-have-we-done-a-year-in-lockdown/) - By Ashley Lawmon. 12 whole months ago we took our family and locked them away from the world thinking 'ahh few months and we will be free again…' and how wrong we were! Here we are having missed a year of our family, school, cancelled holidays and so many missed day trips, BUT we are
- [How did I get here?](https://www.actionduchenne.org/how-did-i-get-here/) - By Jessica Breeze Sometimes in life, do you ever wonder – how did I get here? I mean at a particular moment, point in time. This is what I’m pondering as I open my laptop and start this blog, about my daughter being a carrier (or manifesting carrier) of Duchenne muscular dystrophy - how did
- [Changing Places change lives](https://www.actionduchenne.org/changing-places-change-lives/) - By Lizzie Deeble, Lead Volunteer, Contributor and Duchenne Mum Last week, the government allocated £30 million in funding to install Changing Places toilets in existing buildings in England. Just a few years ago I wouldn’t have even noticed this news and even if I had it would have meant very little. I don’t think I
- [The Spires Federation school fundraising](https://www.actionduchenne.org/the-spires-federation-fundraising-day/) - The awesome Deborah Holland is taking on the mighty Peak District Challenge in July, inspired by her best friend Lindsay's youngest son Riley who lives with Duchenne muscular dystrophy. Riley attends Nocton Primary School, one of three schools in the Spires Federation. All three schools Nocton, Digby and Dunston, will be hosting a fundraising awareness
- [Rare disease day](https://www.actionduchenne.org/rare-disease-day/) - Rare diseases present unique challenges. Many families have never heard of Duchenne before a diagnosis. It might be the first case your GP has seen, and it's unlikely your friends and families will have heard of the condition. Rare disease day helps us to reach outside our community, to spread awareness and raise the profile
- [Understanding the psychology of learning and behaviour in Duchenne muscular dystrophy](https://www.actionduchenne.org/understanding-the-psychology-of-learning-and-behaviour-in-duchenne-muscular-dystrophy/) - The better you understand your child or young person, the more equipped you are to help them manage their behaviour. I found the webinar so interesting and for me was a complete game changer in how I deal with A, I feel he is going to benefit so much more from my new found understanding
- [Rare Disease Day 2021](https://www.actionduchenne.org/rare-disease-day-2021/) - Rare Disease Day 2021 will take place on Sunday 28 February. It is a chance to raise awareness amongst the general public and decision-makers about rare conditions and their impact on people’s lives. This year, in light of Covid-19, it will be harder than ever to ensure the voices of the UK’s rare community are
- [Happy birthday John Miller](https://www.actionduchenne.org/happy-birthday-john-miller/) - Dedicated Grandfather and our Scottish Advocate John Miller has selflessly created a birthday fundraiser for Action Duchenne to celebrate his 82nd birthday. We were proud to award John the 'Action Duchenne award for outstanding contribution to campaigning & advocacy' in recognition of his hard work and dedication; campaigning, lobbying, advocacy and fundraising on behalf of
- [Spreading the love with the £2 tweet](https://www.actionduchenne.org/spreading-the-love-with-the-2-tweet/) - Donate just £2 and we'll send your tweet from the Action Duchenne Twitter account to over 6000 followers. It can be whatever you want (as long as you'd say it to your Granny!), we'll even tag your friends or favourite celebrity if you like. Tell a joke, give someone a shout out, or keep the community guessing
- [2021 Annual General Meeting](https://www.actionduchenne.org/action-duchenne-annual-general-meeting/) - 18:00 - 19:00 GMT Tuesday 23 February 2021 via Zoom The Trustees of Action Duchenne would like to express their gratitude for the continued support from the Duchenne community and extend an invite to attend our virtual 2021 Annual General Meeting at 18:00 GMT Tuesday 23 February. What to expect at the AGM The meeting
- [Duchenne Science LIVE launches today](https://www.actionduchenne.org/duchenne-science-live-launches-today/) - Families living with Duchenne muscular dystrophy (DMD) face many challenges, one being keeping up with developments in Duchenne research. Our new virtual science communication channel 'Duchenne Science LIVE', makes it easy for families to learn from the experts. Duchenne families are desperate to know about research advances that could help slow the progression of their
- [Handmade cards by Bella](https://www.actionduchenne.org/handmade-cards-by-bella/) - Action Duchenne is a charity close to mine and my family’s heart. About two years ago I was part of a fundraiser at a Newcastle Falcons game and I would love to continue to support your amazing work! The lovely Gabriella Hodge set up her handmade card business @handmadeby_bella during lock down. She has decided to donate a
- [Practical tips to help your child or young person](https://www.actionduchenne.org/practical-tips-to-help-you-through-the-summer-holidays/) - Webinar with inspiring SEN expert Clair Warner. IntroLife skills 11:39 Thinking/memory 32:15 Creativity 39:59 Super skills 44:36 Communication 53:43 Wellbeing 1:03:06 Structure/routine 1:15:58 Screen time 1:17:51 New normal/post-lockdown 1:21:25 Siblings 1:29:33 Behaviour/mental health 1:34:50 Learning 1:36:47 Anxiety 1:37:16 Questions and open discussion 1:39:14 About the expert Clair is Head of Service at Newbridge Outreach in
- [YouTube channel for Duchenne science](https://www.actionduchenne.org/new-duchenne-science-youtube-channel/) - We know it is hard for families to keep up with research developments in Duchenne muscular dystrophy. After the success of the 'Science on Tour' project in 2019, we are all ready and waiting to start the 'Science on Tour 2' series of events, which will answer the big questions Duchenne families face. But, as
- [New support sessions to help Duchenne families cope with post-Christmas lock-down](https://www.actionduchenne.org/new-support-sessions-to-help-duchenne-families-cope-with-post-christmas-lock-down/) - Since Christmas, we have heard from many Duchenne families that they are struggling to keep their spirits up. January’s lock-down has come at a particularly difficult time for many of you. Get support from people who understandFree for all to attendIdeal for people in the Duchenne community who need a boost this JanuaryWarm, inclusive sessionPeer-to-peer
- [Support Action Duchenne this January and Save Money with My Favourite Voucher Codes](https://www.actionduchenne.org/support-action-duchenne-this-january-and-save-money-with-my-favourite-voucher-codes/) - This January, Action Duchenne has teamed up with a money saving website with a twist, My Favourite Voucher Codes. We’re up for winning 20% of the site’s monthly profits, and we’ll be needing your votes to help us get there! My Favourite Voucher Codes are a money saving website that has a great selection of
- [Light up lockdown](https://www.actionduchenne.org/light-up-lockdown/) - We understand absolutely and completely how many of you are feeling today. This lock-down has come at a notoriously difficult time in the year, with dark days, long evenings and post-holiday blues. It is likely that Duchenne families across the four nations, and the wider community will be tested to the limit over the next
- [Project Engagement & Support Coordinator role](https://www.actionduchenne.org/project-engagement-support-coordinator-role/) - Remote working21 hours per week6 months contract£18-20k pro rataLived experience of Duchenne desirable criteria Action Duchenne knows that there is only one person who understands what a Duchenne parent is going through, and that is another Duchenne parent. The same applies to young people and adults living with Duchenne muscular dystrophy. Overview Focussing on the
- [Digital Marketing Coordinator (Support Projects) role](https://www.actionduchenne.org/digital-marketing-coordinator-support-projects-role/) - Remote working21 hours per week6 months contract£18-20k pro rataLived experience of Duchenne desirable criteria Action Duchenne knows that there is only one person who understands what a Duchenne parent is going through, and that is another Duchenne parent. The same applies to young people and adults living with Duchenne muscular dystrophy. Overview Focussing on the
- [Christmas Show with Bertie Slippers](https://www.actionduchenne.org/christmas-show-with-bertie-slippers/) - Our friend Bertie Slippers, nearly the world's best children's entertainer, has recorded a very special show for our wonderful families to enjoy. We are excited to share this wonderful festive show jam packed, full of sparkles, fun, magic, music and dancing! Supported by Pears Foundation, Contact and the Department for Digital, Culture, Media & Sport we
- [Helena sends a Christmas message](https://www.actionduchenne.org/helena-sends-a-christmas-message/) - Our Patron and phenomenal actress, Helena Bonham Carter sent us this message to share with you; 'Wishing you all a happy and safe Christmas. I sincerely hope 2021 is an easier year for everyone including families affected by Duchenne Muscular Dystrophy, a rare muscle wasting condition, for whom the pandemic will have been so challenging' 'I am a
- [Action Duchenne sprinkles a touch of magic for brave Duchenne families](https://www.actionduchenne.org/action-duchenne-sprinkles-a-touch-of-magic-for-brave-duchenne-families/) - The hundreds of children, young people and adults living with Duchenne muscular dystrophy (DMD) face many challenges, which have been exacerbated by COVID-19 and lock down. At a time when it is simply not safe or possible to meet Father Christmas in person, we have arranged for the Big Man himself to speak directly to
- [Conference platform is LIVE](https://www.actionduchenne.org/conference-platform-is-live/) - If you have already registered your place at the Action Duchenne International Conference, you now have access to the LIVE platform. Go to the Conference platform Things we recommend you do in the platform now; follow the link to the platform, log in and set your passwordadd to your profile (top right hand side)check out
- [Action Duchenne gains lottery funding](https://www.actionduchenne.org/action-duchenne-gains-lottery-funding/) - We are delighted to announce that we have been awarded a grant from The National Lottery Community Fund. Funding from the Coronavirus Community Support Fund, distributed by The National Lottery Community Fund, is being awarded in recognition of our continuing work to support Duchenne families during lockdown and beyond. Since the start of the pandemic we have delivered 25 webinars,
- [Talking with your children about Duchenne](https://www.actionduchenne.org/talking-with-your-children-about-duchenne-watch-webinar/) - Thank you to everyone who joined us online for our FREE webinar with Dr David Schonfeld - talking with your children about Duchenne muscular dystrophy (diagnosis, treatment, hopes and dreams). It was a powerful and highly informative session, with plenty of great questions from the audience. Watch webinar Download PDF of 'Talking to your child'
- [Christmas Truckers Charity Convoy](https://www.actionduchenne.org/christmas-truckers-charity-convoy/) - We are excited and super proud to share the story of two amazing gents; Danny Whitmore and Nathan Cowling, who are responsible for the phenomenally successful NHS Truckers Convoy. In May 2020, over 100 trucks travelled from Chatteris to Peterborough City Hospital, raising £18,000 for NHS Hospital Charities. They are back! On Saturday 19 December,
- [It's all about the why?](https://www.actionduchenne.org/its-all-about-the-why/) - Watch our short video produced for the virtual Action Duchenne International Conference 2020. Thank you to everyone who sent us their messages of support. Our vision - a world where lives are no longer limited by Duchenne muscular dystrophy
- [Apply for a charity place](https://www.actionduchenne.org/apply-for-a-charity-place/) - Thank you for your interest in taking part in the 2021 Virgin Money London Marathon for Action Duchenne. The London Marathon is the biggest fundraising event in the UK and as a consequence the our charity places are likely to be over-subscribed. In this form you will have the opportunity to tell us why you
- [LEGO Quest](https://www.actionduchenne.org/lego-quest-proudly-brought-to-you-by-the-paskins-trust/) - Calling all LEGO master builders We are super excited to launch the Action Duchenne LEGO Quest. To be in with a chance of winning one of our 8 very special prizes, ask a parent to upload your entries on Facebook with the hashtags #ADConf20 #ADLegoQuest and the Quest Number. You can enter one or even
- [Closing remarks from the Conference](https://www.actionduchenne.org/closing-remarks-from-the-conference/) - Action Duchenne 2020 International Conference Closing Remarks by Florence Boulton, National Director It has been truly a great couple of days. Thanks so much for all your kind wishes and positive encouragement. This makes me very proud of the team, and all who contributed to making this a great conference. Please join me in thanking
- [Helena sends message of support for our big event](https://www.actionduchenne.org/helena-sends-message-of-support-for-our-big-event/) - Our Patron and exceptional actress, Helena Bonham Carter sent us this message to share with you; "I am proud to invite you to this year's Action Duchenne International Conference, for the first time taking place online! I would encourage you to register as I know the AD team has an amazing weekend planned for you.
- [Lockdown 2 - easy to understand COVID-19 advice for Duchenne families](https://www.actionduchenne.org/lockdown-2-easy-to-understand-covid-19-advice-for-duchenne-families/) - The Government has released guidelines for the second English lockdown. Some people living with Duchenne muscular dystrophy will be in the “clinically extremely vulnerable” group, while others will be in the “clinically vulnerable” group. Now that clinicians understand more about how COVID-19 affects children, some who were originally placed in the “clinically extremely vulnerable” group
- [Take part in small group sessions at the Conference](https://www.actionduchenne.org/take-part-in-small-group-sessions-at-the-conference/) - At the Action Duchenne International Conference, not only will you be able to chat with experts during the weekend, ask your questions through the Q and A facility, but we have also arranged small group sessions with experts that you can book onto! Find out how Already registered? You will have access to the Conference
- [Support with navigating school](https://www.actionduchenne.org/support-with-school/) - Book a 1-2-1 session with our two experts, to discuss and ask for support around the school/college process for your young person, advice on EHCPs and ensuring your child/young person receives the support and provision they need. Find out more Each session is 45 minutes and we are pleased to offer these tasters free of
- [Virtual guided tour of the Conference platform](https://www.actionduchenne.org/virtual-guided-tour-of-the-conference-platform/) - Watch Lynnette's short video showing you round the Conference platform. In the video you will find out How to registerHow to log inUpdate profileWatch recorded content from NDP eventWatch video libraryFind out about speakersHow to book 121 & group sessionsHow to view the live sessionsHow to chat, ask questions and add your feedbackMeet the exhibitors
- [A space to talk](https://www.actionduchenne.org/free-counselling-taster-sessions/) - It is quite usual for people to be in two minds about starting counselling. This is one of the reasons why we're offering our families the opportunity to book a ‘counselling taster session’ with one of our trained counsellors which is a ‘gentle introductory’ meeting that'll explore three main areas: Firstly, it’s a confidential space
- [Newly diagnosed families special event](https://www.actionduchenne.org/newly-diagnosed-families-special-event/) - When you receive the diagnosis of Duchenne muscular dystrophy, the amount of information you receive seems overwhelming. Here at Action Duchenne, we support hundreds of families at all stages of their journey. We know how important it is to families to gain as much information as possible in the early stages of diagnosis. But we also
- [The 2020 Action Duchenne International Conference Registration is now OPEN!](https://www.actionduchenne.org/the-2020-action-duchenne-international-conference-registration-is-now-open/) - We are delighted to announce that our Action Duchenne International Conference 2020 (‘the Conference’) is now open for registration. Register The event will inspire and educate hundreds of people from around the globe with updates on research, care and living with Duchenne muscular dystrophy. We invite all our young people and adults living with Duchenne,
- [Calling all gamers!](https://www.actionduchenne.org/calling-all-gamers/) - Here's your chance to have a say in the 'gaming at the Conference' session for the virtual Action Duchenne International Conference 2020. We'd like to run a global eSports event and need your input to make this happen! For everyone Please complete one form per person, tell us about you and your family members who
- [Webinar has life-changing impact on Duchenne family](https://www.actionduchenne.org/webinar-has-life-changing-impact-on-duchenne-family/) - "Just a few days into lockdown, an email landed in my inbox from Action Duchenne offering us a free webinar with a physiotherapist. I bookmarked it, procrastinated about booking a place and thought nothing much of it - far too much to do, too busy, too stressed, and anyway, I know about Fred’s physiotherapy. Luckily,
- [Duchenne Grandparents' evening was a success](https://www.actionduchenne.org/duchenne-grandparents-evening-was-a-success/) - Last week, we invited Duchenne Grandparents to come together to share their experiences and meet others in a similar situation. It was a tremendous success! It was wonderful to hear the group share their thoughts, worries and support. The newly diagnosed Grandparents were able to get advice and helpful ideas from the others, along with
- [New sessions announced](https://www.actionduchenne.org/new-sessions-announced/) - This year's Action Duchenne International Conference is virtual and you are invited! Tickets are FREE, all are welcome and we'll be sharing more sessions over the next few weeks. Register for tickets But for now, here's a taster of what is in store for you; How gene therapy works, what a mini/micro-dystrophin really is and how they
- [Returning to school - advice from expert SEN](https://www.actionduchenne.org/returning-to-school-advice-from-expert-sen/) - Your chance to watch the recording of the Webinar with inspiring SEN expert Clair Warner. About the expert Clair is Head of Service at Newbridge Outreach in Redbridge, specialising in supporting pupils who have difficulties associated with medical needs, physical disabilities, gross and fine motor skills, dyspraxia and other organisational difficulties and other learning difficulties.
- [Gene therapy experts announced](https://www.actionduchenne.org/gene-therapy-experts-announced/) - Have we got an exciting line up of speakers and sessions for you! We will be announcing more details over the coming days and weeks. But for now, to kick us off, we're proud to confirm the world's top experts will take you on a journey through the fascinating world of gene therapy and gene
- [Invitation for the international Duchenne community](https://www.actionduchenne.org/invitation-for-the-international-duchenne-community/) - This year, the Action Duchenne International Conference is taking place ONLINE! Hear from top international Duchenne experts in a content-packed weekend of information, sharing, support and networking. Immerse yourself in a range of topics, from research and clinical trials, education to diagnosis, psychology to living independently. Being online this year, we have the opportunity to
- [Share your experiences to help others](https://www.actionduchenne.org/share-your-experiences-to-help-others/) - As the Action Duchenne International Conference 2020 is virtual this year, we have the opportunity to do things a little differently! As well as an exciting group of speakers, we want to give as many families as possible the chance to share hints, tips and experiences with others in the Duchenne community, to help them
- [We did it! Tour de Taylor Wimpey](https://www.actionduchenne.org/we-did-it-tour-de-taylor-wimpey/) - There were times when we thought it might not happen, back in June when we had to postpone it and during the ride when we woke up on Saturday morning, or when we got to a collapsed bridge giving us the option of a big detour or finding a way over the ditch (we didn’t
- [Matt's AVR Cycle September](https://www.actionduchenne.org/matts-avr-cycle-september/) - We are proud to share Matt's story as he raises money for Action Duchenne throughout September with our very own Angela Stringer's son Jonathan in his heart. The challenge From the 1st - 30th September AVR London are attempting to cycle 2500km to raise money for a variety of wonderful charities. That's the equivalent of
- [World Duchenne Awareness Day 2020 was a success](https://www.actionduchenne.org/world-duchenne-awareness-day-2020-was-a-success/) - Thank you to everyone who liked, shared and interacted with our #WDAD2020 posts on Monday! We joined the global Duchenne community to celebrate our similarities and differences and to raise the profile of Duchenne muscular dystrophy. We reached tens of thousands of people across the globe with our 'Duchenne and the brain' information, insights from
- [Returning to school - tips and advice](https://www.actionduchenne.org/returning-to-school-tips-and-advice/) - Marion Main, expert Duchenne physiotherapist from Great Ormond Street Hospital shares her decades of expertise, covering important topics in the order below; Introduction from Lynnette Ellison, Community Fundraising & Support Officer at Action Duchenne Activity and inactivity (the effects from lockdown) Reduced mobility and how to help Physiotherapists and OTs in school Changes to priorities
- [Open letter from the Department for Education #weneedanswers](https://www.actionduchenne.org/open-letter-from-the-department-for-education-weneedanswers/) - In May, we sent out letters directly to Prime Minister Boris Johnson, Secretaries of State for Health, Education and Work and Pensions, as well as to the devolved administrations. We have received a letter from Vicky Ford MP, Parliamentary Under-Secretary of State for Children and Families in response to our letter. Read letter here Next week we
- [Shining a spotlight on two very special ladies](https://www.actionduchenne.org/shining-a-spotlight-on-these-two-very-special-ladies/) - Maggie and Maria are two wonderful volunteers who have shaken their buckets at collections, cheered at various events, as well helping at our International Conference. They’ve taken part in, and organised many fundraising activities including easter egg hunts, bake sales, abseils and skydives to name just a few. Their next challenge is to walk 20km in
- [Vote for Action Duchenne in the Discount Promo Codes Charity Poll](https://www.actionduchenne.org/vote-for-action-duchenne-in-the-discount-promo-codes-charity-poll/) - Every year, Action Duchenne supports over 1000 families affected by the condition. The Covid-19 pandemic has impacted not only our fundraising efforts but also the demand for services within the Duchenne community, meaning we require your support now more than ever. This month, we are delighted to be partnering with Discount Promo Codes in their
- [Taking Raxone? We need your input!](https://www.actionduchenne.org/taking-raxone-we-need-your-input/) - The National Institute for Health and Care Excellence (NICE) is consulting on a potential new drug called Idebenone (or Raxone) which may slow down the decline in respiratory function for patients with Duchenne. Your response will help inform us about patients' experiences of taking Raxone, which will help NICE make a decision about whether the medicine
- [Action Duchenne launches new Research Strategy](https://www.actionduchenne.org/action-duchenne-launches-new-research-strategy/) - The new research strategy will focus on a number of areas of unmet need, including making access to trials possible for the entire Duchenne population (both paediatric and adult); many of the challenges for teenagers and adults living with Duchenne remain largely unaddressed:
- [First patient dosed in microdystrophin gene therapy in US](https://www.actionduchenne.org/first-patient-dosed-in-microdystrophin-gene-therapy-in-us/) - Action Duchenne are delighted to see the progress in gene therapy...originally identified gene therapy as it's top priority in 2013 and are continuing to fund this progress with the UNITE-DMD project with other fellow charities.
- [Raxone is the first Duchenne drug approved through the Early Access to Medicines Scheme](https://www.actionduchenne.org/raxone-is-the-first-duchenne-drug-approved-through-the-early-access-to-medicines-scheme/) - We are excited to share with the Duchenne community, that Santhera Pharmaceutical’s drug Raxone, is the first Duchenne drug approved via the Early Access to Medicines Scheme (EAMS). The drug’s purpose is to stop respiratory decline, in people living with Duchenne who are not on steroids
- [Daiichi Sankyo announce results of Phase 1/2 clinical trial](https://www.actionduchenne.org/daiichi-sankyo-announce-results-of-phase-1-2-clinical-trial/) - The study is the first clinical trial to examine the safety and efficacy of the drug, which was administered subcutaneously once weekly for 12 weeks to patients with Duchenne muscular dystrophy.
- [TREAT-NMD steroids analysis demonstrates the power of 'real-world' Registry data](https://www.actionduchenne.org/treat-nmd-steroids-analysis-demonstrates-the-power-of-real-world-registry-data/) - The data may help to power future clinical trials by highlighting the need for trial design to take into account the heterogeneity of the DMD population including patient age, mutation type, and corticosteroid background.
- [Match funding brings Trustee's fundraising to over £4,000](https://www.actionduchenne.org/match-funding-brings-trustees-fundraising-to-over-4000/) - A fortnight ago, Sarah Colvin faced windy hill climbs, rain, and even two punctures, in her cycle from London to Penzance. She exceeded £2,000 in her fundraising and has now doubled her impact through company match-funding!
- [RevaraGen starts enrolment for steroid alternative clinical trial](https://www.actionduchenne.org/revaragen-starts-enrolment-for-steroid-alternative-clinical-trial/) - Preclinical funding was provided by DMD foundations including Action Duchenne.
- [An updated detailed review of our last Scotland roundtable](https://www.actionduchenne.org/an-updated-detailed-review-of-our-last-scotland-roundtable/) - Action Duchenne hosted a Scottish roundtable meeting which wasn an excellent opportunity families to meet with leading clinicians, hear from Scotland’s Public Health and Sport Minister, Aileen Campbell and give a greater understanding of the medical research taking place.
- [Alderwood Recruitment hold bake sale for Action Duchenne](https://www.actionduchenne.org/alderwood-recruitment-hold-bake-sale-for-action-duchenne/) - Inspired by her cousins, Grace Hackett of Alderwood Recruitment encouraged her team to support Action Duchenne, helping to improve the lives of all young people living with Duchenne.
- [Translarna Managed Access Agreement frequently asked questions](https://www.actionduchenne.org/translarna-managed-access-agreement-frequently-asked-questions/) - We have worked with Muscular Dystrophy UK to create a Question and Answer document about Translarna and the Managed Access Agreement.
- [Summit discuss their recently reported positive data from their 'PhaseOut DMD' trial (webinar)](https://www.actionduchenne.org/summit-discuss-their-recently-reported-positive-data-from-their-phaseout-dmd-trial-webinar/) - The Webinar generated a lot of interest with many people in attendance; but if you missed out, a recording of the webinar is available in this article.
- [Mitobridge’s Potential Treatment for Duchenne Advances into Clinical Development](https://www.actionduchenne.org/mitobridges-potential-treatment-for-duchenne-advances-into-clinical-development/) - Mitobridge, Inc., a pioneer in the discovery and development of products that improve mitochondrial function, today announces a key milestone with the initiation of the first-in-human Phase I trial of its PPAR-delta (PPARd) modulator, MA-0211 (also known as MTB-1).
- [Worldwide licence for new drug SOMO266 as SOM Biotech expands to the United States](https://www.actionduchenne.org/worldwide-licence-for-new-drug-somo266-as-som-biotech-expands-to-the-united-states/) - The med-tech biopharmaceutical company, SOM Biotech, has granted a licence agreement with Corino Therapeutics Inc. for its first product SOMO266 for the treatment of TTR Amyloidosis following encouraging Phase 2 study results.
- [Pharmaceutical Companies Working in Duchenne Report Q2 Financial Results and Provide Business Updates](https://www.actionduchenne.org/pharmaceutical-companies-working-in-duchenne-report-q2-financial-results-and-provide-business-updates/) - A number of pharmaceutical and biotech companies working in the field of Duchenne muscular dystrophy, have recently reported their 2nd quarter financial results and provided updates on their business activities and programmes.
- [Give your feedback to Summit in their Utrophin modulator patient/family survey](https://www.actionduchenne.org/give-your-feedback-to-summit-in-their-utrophin-modulator-patient-family-survey/) - Summit are looking for feedback from caregivers and patients themselves in their commitment to working alongside patients, their families and caregivers in developing utrophin modulators. Utrophin modulators have the potential to be universal treatments for Duchenne muscular dystrophy. Summit would like your feedback on how well they are doing as a partner of patients, families and caregivers and
- [Positive data from Summit's PhaseOUT DMD ezutromid clinical trial](https://www.actionduchenne.org/positive-data-from-summits-phaseout-dmd-ezutromid-clinical-trial/) - Summit have announced significant reduction in muscle damage and an increase in utrophin in muscle biopsies. Register for WEBINAR.
- [Implementation plans for the UK Strategy for Rare Diseases](https://www.actionduchenne.org/implementation-plans-for-the-uk-strategy-for-rare-diseases/) - Action Duchenne is delighted to hear the continued commitment by NHS England to improve care of those living with rare diseases. This coincides nicely with the release of the updated standard of care guidelines for Duchenne just last week.
- [Recognising early signs of Duchenne videos featured on BBC Look North](https://www.actionduchenne.org/recognising-early-signs-of-duchenne-videos-featured-on-bbc-look-north/) - Early treatment improves outcomes and improves survival, this field has seen possibly the most development in research and new treatment of all fields in medicine and we now have revolutionary new treatments and we want these (young people) to access these treatments early. Dr Henriette Van Ruiten - Paediatric Neurologist, John Walton Centre, Newcastle
- [Shelley Simmonds joined Findacure on the radio to celebrate Rare Disease Day](https://www.actionduchenne.org/shelley-simmonds-joined-findacure-on-the-radio-to-celebrate-rare-disease-day/) - One of our wonderful Trustees, Shelley Simmonds joined Findacure on Cambridge 105 to celebrate Rare Disease Day 2018.
- [Redefining 'normal' - disability from a sibling's perspective](https://www.actionduchenne.org/redefining-normal-disability-from-a-siblings-perspective/) - Emily's blog addressed disability from a siblings perspective as her youngest brother lives with Duchenne muscular dystrophy. "When you have a sibling who has a condition such as DMD, you’re ‘normal’ isn’t the same as everyone else’s ‘normal’ your age, and that doesn’t really change through the various stages of life no matter how old you get."
- [Spotlight on fundraisers January 2018](https://www.actionduchenne.org/spotlight-on-fundraisers-january-2018/) - Check out some of our wonderful fundraisers; Jo Gelblum, Deborah O'Doherty, Holiday Inn Luton, Matthew Bardsley, Alexis Ellison, Janet Bloor
- [Online learning tool for kids](https://www.actionduchenne.org/free-online-learning-tool-for-kids/) - We have teamed up with Purple Mash to offer you access to a fantastic online learning tool for primary-aged kids (under 12). Your children log in to the 'Action Duchenne school' and can explore grammar, maths and spelling and there is also a ‘play’ section with fun, educational games. When we speak to our families,
- [Ignite DMD update](https://www.actionduchenne.org/ignite-dmd-update/) - In a press release yesterday, Solid Biosciences gave a short update on their gene therapy trial called Ignite DMD. Following the decision earlier this year to move to the higher dose of the potential treatment, a second participant has received the higher dose of SGT-001. The trial is an early stage trial, which is testing
- [Thank You - An announcement on the Early Access to Medicines Scheme for Raxone](https://www.actionduchenne.org/thank-you-an-announcement-on-the-early-access-to-medicines-scheme-for-raxone/) - Collaborative effort and input from Duchenne patients and families, sees Raxone receive positive opinion to remain on Early Access to Medicines Scheme.
- [Action Duchenne invites the participation of the Becker muscular dystrophy community in November!](https://www.actionduchenne.org/action-duchenne-invites-the-participation-of-the-becker-muscular-dystrophy-community-in-november/) - Hear exclusive updates on Becker muscular dystrophy
- [Sarepta collaborate with Invitae to speed up diagnosis of Duchenne](https://www.actionduchenne.org/sarepta-collaborate-with-invitae-to-speed-up-diagnosis-of-duchenne/) - Collaboration aims to speed up diagnosis and expand research into Duchenne.
- [Duchenne Standards of Care: Psychosocial](https://www.actionduchenne.org/what-is-duchenne-supporting-you-standard-of-care-duchenne-standards-of-care-psychosocial/) - At the Action Duchenne International Conference in 2018, experts from across the world gave talks on topics around the current Standards of Care for Duchenne. Here is our final video, from Dr Sadie Thomas-Unsworth, a Clinical Psychologist who helps many families deal with the psychological effects of living with Duchenne. Further reading Glossary of research
- [Duchenne Standards of Care: Transition](https://www.actionduchenne.org/what-is-duchenne-supporting-you-standard-of-care-duchenne-standards-of-care-transition/) - At the Action Duchenne International Conference in 2018, experts from across the world gave talks on topics around the current Standards of Care for Duchenne. Dr Michela Guglieri is a Research Fellow and Honorary Consultant at Newcastle University, and in this session, she talks through transition stages for people living with Duchenne muscular dystrophy. Further
- [Early data shows Eteplirsen tolerated safely in young infant with Duchenne](https://www.actionduchenne.org/early-data-shows-eteplirsen-tolerated-safely-in-young-infant-with-duchenne/) - Early data shows Eteplirsen tolerated safely in young infant with Duchenne
- [Wave enter into collaboration with Deep Genomics to expand research programme](https://www.actionduchenne.org/wave-enter-into-collaboration-with-deep-genomics-to-expand-research-programme/) - Wave Life Sciences and Deep Genomics Form Collaboration to Discover Novel Therapies for Genetic Neuromuscular Disorders
- [What your money buys](https://www.actionduchenne.org/what-your-money-buys/) - If you're supporting one of our many Duchenne research projects, here's an idea of where your money goes, and how every penny counts.
- [Harry Hill's 'Comedians Sing Christmas Songs' for Action Duchenne was a hit!](https://www.actionduchenne.org/harry-hills-comedians-sing-christmas-songs-for-action-duchenne-was-a-hit/) - A huge thank you to our patron, Harry Hill, who hosted one of Action Duchenne's biggest ever events last night. 'Comedians Sing The Christmas Hits' was a surreal extravaganza, and featured some of the biggest names in British comedy, including Jo Brand, Alex Brooker, Rob Brydon, London Hughes, Alan Carr, Jimmy Carr, Matt Lucas, Stewart
- [Thomas Blumire's music to be performed at West Midlands concert](https://www.actionduchenne.org/thomas-blumires-music-to-be-performed-at-west-midlands-concert/) - Thomas's uplifting composition "It Couldn't Be Done" will be performed by the Music of Life Foundation on June 20.
- [Delay in access to Exondys 51](https://www.actionduchenne.org/delay-in-access-to-exondys-51/) - Last week, at the European Medicine’s Agency (EMA) the Committee for Medicinal Products for Human Use (CHMP) held a hearing looking at whether to grant a regulatory approval for eteplirsen (also known as Exondys 51) in Europe.
- [VISION-DMD newsletter launched at Phase 2 of clinical trial of Vamorolone](https://www.actionduchenne.org/vision-dmd-newsletter-launched-at-phase-2-of-clinical-trial-of-vamorolone/) - Action Duchenne supported the preclinical funding and Phase 1 clinical trials of this innovative steroid-like intervention on Duchenne muscular dystrophy.
- [Breaking news - first people enrolled in Raxone EAMS scheme in UK](https://www.actionduchenne.org/breaking-news-first-people-enrolled-in-raxone-eams-scheme-in-uk/) - We are delighted to announce the first people are enrolled in the UK's Early Access to Medicines Scheme (EAMS) for Raxone.
- [PM replies to parents and patients on Translarna](https://www.actionduchenne.org/pm-replies-to-parents-and-patients-on-translarna/) - After submitting a letter to No.10 Downing St on June 9, the Prime Minister David Cameron sent a host of replies to Action Duchenne yesterday to pass on to those patients and families who implored him to intervene on Translarna.
- [Recognising Neuromuscular Disorders eLearning module is now live](https://www.actionduchenne.org/recognising-neuromuscular-disorders-elearning-module-is-now-live/) - E-learning resources support paediatricians and other child health professionals to achieve the essential competences in a number of important areas. These can be used to support your training and continuing professional development (CPD).
- [Papworth Trust's Disability in the UK: Facts and Figures 2018](https://www.actionduchenne.org/papworth-trusts-disability-in-the-uk-facts-and-figures-2018/) - Did you realise that disabled people are TWICE as likely to be unemployed than non-disabled people? Are you aware that there are currently 1.8 million disabled people with unmet housing needs or that disabled people between the ages of 18-65 represent one third of social care users?
- [NICE Consultation on Guidelines for Suspected Neurological Conditions](https://www.actionduchenne.org/nice-consultation-on-guidelines-for-suspected-neurological-conditions/) - NICE (the National Institute for Health and Care Excellence) have released for consultation, a new set of draft guidelines for healthcare professionals to use in recognising and referring suspected cases of neurological conditions (including Duchenne and Becker muscular dystrophy).
- [The Forgotten Voice - living with Duchenne as a sibling](https://www.actionduchenne.org/the-forgotten-voice-living-with-duchenne-as-a-sibling/) - Hazel has written this piece to help fellow siblings of young people living with Duchenne to know they are not alone.
- [Impact of Aviva fundraising campaign](https://www.actionduchenne.org/impact-of-aviva-community-fund-uk-campaign/) - Thank you to everyone who supported our recent fundraising campaign through the Aviva Community Fund UK. We are delighted to let you know we received 67 donations, not only from the Duchenne community, but from Aviva colleagues and individuals from outside of the Duchenne community. The first Science on Tour events were so important, this
- [Patron wows audiences with moving X Factor performance](https://www.actionduchenne.org/patron-wows-audiences-with-moving-x-factor-performance/) - We were captivated by our Patron, Martin Bashir's beautiful show stopping performance of Nat King Cole's L-O-V-E on this weekend's The Celebrity X Factor. Growing up with Duchenne Martin sang the heart-felt classic in front of judges Simon Cowell, Louis Walsh and Nicole Scherzinger as well as a host of super producers and song writers. He
- [Sarepta and BioMarin resolve exon skipping patent litigation](https://www.actionduchenne.org/sarepta-and-biomarin-resolve-exon-skipping-patent-litigation/) - Agreement terms resolve global patent proceedings regarding Sarepta’s sale of EXONDYS 51 (eteplirsen) and future Duchenne muscular dystrophy (DMD) exon-skipping products
- [FDA Grants Orphan Designation to Mallinckrodt’s potential drug for Duchenne](https://www.actionduchenne.org/fda-grants-orphan-designation-to-mallinckrodts-potential-drug-for-duchenne/) - The U.S. Food and Drug Administation grants orphan designation to Mallinckrodt Pharmaceuticals‘ drug candidate MNK-1411 for treatment of Duchenne Muscular Dystrophy
- [Parity of esteem for people affected by neurological conditions - new report from the Neurological Alliance](https://www.actionduchenne.org/parity-of-esteem-for-people-affected-by-neurological-conditions-new-report-from-the-neurological-alliance/) - The likelihood of having a comorbid mental health condition is higher for neurology patients than for the long-term conditions patient population overall. Yet the emotional, cognitive and mental health needs of neurology patients have tended to be invisible, even within policy on neurological conditions.
- [Awesome Abseil 2019 was incredible](https://www.actionduchenne.org/awesome-abseil-2019-was-incredible/) - On Saturday 8 June 2019, 14 brave, amazing people descended the breathtakingly high Northampton Lift Tower. They were cheered on by their families, friends and Lynnette and Shelley of Action Duchenne. As the weather was too extreme to abseil the 418 feet outside the tower, the descent took place inside. The abseil was broken down
- [FDA new approach would reduce number of patients treated with placebo](https://www.actionduchenne.org/fda-new-approach-would-reduce-number-of-patients-treated-with-placebo/) - Through the proposed controlled, multi-arm, multi-company clinical trials, several products can be tested in a more time-efficient manner.
- [PerkinElmer team up with IDG in diagnostic program](https://www.actionduchenne.org/perkinelmer-team-up-with-idg-in-diagnostic-program/) - This collaboration will help pave the pathway towards improved diagnoses and treatments.
- [Long-term microdystrophin pre-clinical work, moving towards a potential therapy restores muscle function in canines](https://www.actionduchenne.org/long-term-microdystrophin-pre-clinical-work-moving-towards-a-potential-therapy-restores-muscle-function-in-canines/) - Promising microdystrophin pre-clinical work, moving towards a potential therapy has shown to restore muscle function in the canine model (dogs).
- [Santhera announces renewal of Raxone EAMS](https://www.actionduchenne.org/santhera-announces-renewal-of-raxone-eams/) - Santhera has announced that the MHRA (the UK’s drug and medicines regulator) has granted a renewal of the Early Access to Medicines Scheme scientific opinion for Raxone.
- [Action Duchenne co-funding new research bringing new hope for Duchenne muscular dystrophy](https://www.actionduchenne.org/action-duchenne-co-funding-new-research-bringing-new-hope-for-duchenne-muscular-dystrophy/) - “We are delighted to co-fund this project with the Barts Charity. This was an integral part of Action Duchenne’s updated research strategy released last year, supporting promising new techniques that will lead to further advances for Duchenne and Becker Muscular Dystrophy.”
- [Wave announces trial results and new trial plans](https://www.actionduchenne.org/wave-announces-trial-results-and-new-trial-plans/) - Wave Life Sciences have today announced the results of their early stage phase 1 clinical trial of Suvodirsen, as well as their plans for a much larger phase 2/3 clinical trial of the potential drug.
- [Santhera announces plans to apply for conditional approval for Puldysa](https://www.actionduchenne.org/santhera-announces-plans-to-apply-for-conditional-approval-for-puldysa/) - Santhera Pharmaceuticals plans to submit an application for Conditional Approval for Puldysa (also known as idebenone and Raxone) in people living with Duchenne
- [Solid Biosciences announce preliminary trial results](https://www.actionduchenne.org/solid-biosciences-announce-preliminary-trial-results/) - Solid Biosciences have announced preliminary data from their IGNITE-DMD clinical trial that is testing the safety and effectiveness of an adeno-associated virus (AAV) gene therapy.
- [Santhera announces idebenone study results](https://www.actionduchenne.org/santhera-announces-idebenone-study-results/) - Santhera announces long-term effectiveness of idebenone in slowing the decline of breathing function in Duchenne
- [Sarepta Therapeutics announces preliminary results in casimersen (exon 45 skipping) trial](https://www.actionduchenne.org/sarepta-therapeutics-announces-preliminary-results-in-casimersen-exon-45-skipping-trial/) - In a press release, Sarepta Therapeutics announced results of an interim analysis of the casimersen part of their late stage, phase 3 ESSENCE trial.
- [HOPE-2 update from Capricor Therapeutics](https://www.actionduchenne.org/hope-2-update-from-capricor-therapeutics/) - Capricor Therapeutics update on it’s HOPE-2 clinical trial of CAP-1002, a potential treatment for Duchenne muscular dystrophy.
- [Sarepta completes accelerated approval application for golodirsen](https://www.actionduchenne.org/sarepta-completes-accelerated-approval-application-for-golodirsen/) - Sarepta Therapeutics has completed the submission of a request for accelerated approval for golodirsen in the USA
- [Edasalonexent update from catabasis](https://www.actionduchenne.org/edasalonexent-update-from-catabasis/) - Catabasis has announced that the phase 3 trial of edasalonexent is now recruiting at 9 centres across the USA and that regulatory approval for the trial to start in Europe has been received.
- [UNITE-DMD project update - Year 1](https://www.actionduchenne.org/unite-dmd-project-update-year-1/) - Update on the progress of the UNITE-DMD programme that we fund jointly with MDUK and AFM-Telefon.
- [Santhera acquires rights to vamorolone](https://www.actionduchenne.org/santhera-acquires-rights-to-vamorolone/) - Santhera has announced that they have acquired the rights to vamorolone - a drug that has been developed and is currently being tested in trials by Reveragen.
- [Wave Life Sciences announce phase 1 trial results](https://www.actionduchenne.org/wave-life-sciences-announce-phase-1-trial-results/) - Wave Life Sciences has announced results of the phase 1 trial of the WVE-210201 – a potential drug that induces skipping of exon 51 of the dystrophin gene
- [Sarepta Therapeutics has announced the latest results from their gene therapy trial](https://www.actionduchenne.org/sarepta-therapeutics-has-announced-the-latest-results-from-their-gene-therapy-trial/) - Sarepta therapeutics has announced a further set of preliminary results from their early-stage gene therapy trial
- [Catabasis starts Phase 3 trial of edasalonexent](https://www.actionduchenne.org/catabasis-starts-phase-3-trial-of-edasalonexent/) - Catabasis announce that a Phase 3 trial of edasalonexent has started, with trial centres to open shortly – first in the USA and then in Europe.
- [Vamorolone trial results published](https://www.actionduchenne.org/vamorolone-trial-results-published/) - The results of the first clinical trial of vamorolone (which finished in 2016) in people living with Duchenne were published last week
- [Pfizer to discontinue trials of domagruzumab in Duchenne](https://www.actionduchenne.org/pfizer-to-discontinue-trials-of-domagruzumab-in-duchenne/) - Pfizer has announced that trials of domagrozumab are to be discontinued after it failed to show effectiveness in a phase 2 clinical trial.
- [Gene editing restores dystrophin production in dog model of Duchenne](https://www.actionduchenne.org/gene-editing-restores-dystrophin-production-in-dog-model-of-duchenne/) - Researchers from the United States and London’s Royal Veterinary College have demonstrated that gene editing techniques can restore dystrophin production in a dog model of Duchenne.
- [PTC use ataluren trial data to investigate steroids](https://www.actionduchenne.org/ptc-use-ataluren-trial-data-to-investigate-steroids/) - PTC Therapeutics publishes a paper that uses data from the ataluren trial to investigate the effectiveness of deflazacort and prednisolone.
- [Wave gain Orphan Drug status for WVE-210201](https://www.actionduchenne.org/wave-gain-orphan-drug-status-for-wve-210201/) - Wave Life Sciences has announced that the Drug Regulator in the USA – the FDA - has granted both orphan drug designation and rare paediatric disease designation for WVE-210201 – a potential exon skipping drug.
- [Clinial hold in Sarepta gene therapy trial](https://www.actionduchenne.org/clinial-hold-in-sarepta-gene-therapy-trial/) - Sarepta Therapeutics has announced that the FDA has issued a Clinical Hold letter for the company’s phase I/II gene therapy trial.
- [Catabasis announces plans for global trial of edasalonexent](https://www.actionduchenne.org/catabasis-announces-plans-for-global-trial-of-edasalonexent/) - Catabasis announces plans to start a global phase 3 trial to test the safety and effectiveness of a potential drug called edasalonexent in people living with Duchenne muscular dystrophy.
- [Summit announces results of PhaseOut DMD clinical trial of Ezutromid](https://www.actionduchenne.org/summit-announces-results-of-phaseout-dmd-clinical-trial-of-ezutromid/) - Although Ezutromid was safe and well tolerated, after 48 weeks the trial clearly showed that there was no clinical benefit for those who received Ezutromid. As a result, Summit have decided to discontinue the development of Ezutromid.
- [ReveraGen BioPharma announces preliminary results of Vamorolone trial](https://www.actionduchenne.org/reveragen-biopharma-announces-preliminary-results-of-vamorolone-trial/) - ReveraGen BioPharma has announced encouraging preliminary results of their early stage clinical trial of Vamorolone, a potential drug that researchers hope could offer similar benefits to steroids with reduced side effects.
- [Patron backs Duchenne science project](https://www.actionduchenne.org/patron-backs-duchenne-science-project/) - Our Patron and hugely talented actress, Helena Bonham Carter is supporting our Aviva Community Fund project. I’m absolutely delighted to back this groundbreaking project. It will give families affected by Duchenne Muscular Dystrophy the information about Duchenne science to support them in making the best choices for their children. Please pledge your support today.Helena Bonham
- [Cambridgeshire Dad pushes himself to the limit](https://www.actionduchenne.org/cambridgeshire-dad-pushes-himself-to-the-limit/) - A huge thank you and well done to the incredible Alexis Ellison who completed his 24 hour mammoth bike ride - cycling the 9 mile road back and forth from his home town of St Neots to Godmanchester for a whole 24 hours, completely unsupported!
- [Sign up deadline for Ride London 100 - TOMORROW!](https://www.actionduchenne.org/sign-up-deadline-for-ride-london-100-tomorrow/) - The Prudential Ride London-Surrey 100 is a perfect traffic-free ride for a range of cycling abilities! Born out of the cycling legacy of the 2012 Olympics, this epic cycling challenge is not to be missed. Don't take our word for it Duchenne Dad, Lex Ellison talks about his experience when he took part in the
- [Take part in 5 minute online corticosteroids study](https://www.actionduchenne.org/take-part-in-5-minute-online-corticosteroids-study/) - Please take a few minutes to complete this short, anonymous online survey to find out about the side effects of steroids that impacts most on quality of life in people living with Duchenne.
- [Survey for individuals living with swallowing difficulties and neuromuscular disease](https://www.actionduchenne.org/survey-for-individuals-living-with-swallowing-difficulties-and-neuromuscular-disease/) - Do you live with a neuromuscular condition? Do you experience swallowing difficulties as part of your neuromuscular condition? If you answer yes to both questions and you are either: A person living with neuromuscular condition and swallowing difficultiesA person caring for a person living with the above Please consider sharing your experiences by completing an
- [A huge shout out to Eimear O'Doherty](https://www.actionduchenne.org/a-huge-shout-out-to-eimear-odoherty/) - Eimear is just 15 years old, she lives at home with her parents Deborah and Kevin, and siblings Oran 18, Ciara 17 and Niall who lives with Duchenne muscular dystrophy. Following Niall's diagnosis, Deborah and Kevin (with the love and support of their community) have not only raised in excess of £50,000 but the profile
- [Accessing History in Lockdown](https://www.actionduchenne.org/accessing-history-in-lockdown/) - By Dan Miller Whilst lockdown may be easing with some venues reopening, restrictions are still in place and so it remains a challenge to visit many of our favourite places and the activities we enjoy. However if you know where to look there is plenty you can still enjoy right from the comfort of your
- [Specialist paediatric neuromuscular Occupational Therapist](https://www.actionduchenne.org/specialist-paediatric-neuromuscular-occupational-therapist/) - Your chance to watch the webinar with paediatric neuromuscular Occupational Therapist, Denise Wooding from Alder Hey. Watch the recording Thank you to everyone who attended, in particular to Denise for your insight and experience, also to Dr Stefan Spinty who shared his expertise during the session. Denise talked about a range of topics, here are
- [Dr Shuko Joseph awarded the Lorber Prize](https://www.actionduchenne.org/dr-shuko-joseph-awarded-the-lorber-prize/) - We are delighted to share the news that; Dr Shuko Joseph has won the Lorber Prize for best paediatric research paper for her work on growth and fracture using the UK NorthStar database that was published last year. The Lorber Prize is a prize awarded by the UK Royal College of Paediatrics and Child Health
- [Remembering BJ Doherty](https://www.actionduchenne.org/remembering-bj-doherty/) - We were so very shocked and saddened to hear the news of BJ Doherty's passing in January 2019. BJ was an incredible friend, father and husband, who joined the Action Duchenne family through his friendship with the Deebles, one of our Family Ambassadors. I remain completely humbled and amazed that even in the wake of
- ["Disabled candidates are PREMIUM" - working when you live with a disability](https://www.actionduchenne.org/disabled-candidates-are-premium-working-when-you-live-with-a-disability/) - Disability Employment Adviser, Tracey Coleman, took us through every single thing you need to know about working when you live with a disability. The information was thorough, detailed and vital for young people and adults living with Duchenne. Jane Hatton spoke about her unique approach to placing disabled candidates with employers through Evenbreak, her truly
- [Thank you to the staff and pupils at Immanuel College](https://www.actionduchenne.org/thank-you-to-the-staff-and-pupils-at-immanuel-college/) - A very special thank you to Eddie Curtis, 14, who bravely gave a presentation to 700 pupils at his school about Duchenne muscular dystrophy, and the work of Action Duchenne. Inspired by his good friend who lives with Duchenne, Eddie, an avid Colchester United fan, nominated Action Duchenne as one of the school’s charities for
- [Shining a spotlight on Sam Heathcote - a very special young fundraiser](https://www.actionduchenne.org/shining-a-spotlight-on-sam-heathcote-a-very-special-young-fundraiser/) - Sam's kind hearted, generous and thoughtful nature shines through everything he does to support us and our work. Inspired by his good friend Toby Maurice, Sam has started his own book business, collecting old and unwanted books from people in his local community. So far Sam has raised £147, a fantasic total which is testament
- [Support our campaign for COVID-19 answers](https://www.actionduchenne.org/campaigning-for-covid-19-answers/) - COVID-19 has deeply affected the families we support. Most people living with Duchenne muscular dystrophy have been classified as clinically extremely vulnerable and as a result are shielding. The government’s public announcements and guidance have largely ignored the needs of those living with complex conditions, instead simply advising shielding with no clear exit plan. This
- [Open letter from Minister for Health, Northern Ireland](https://www.actionduchenne.org/open-letter-from-minister-for-health-northern-ireland/) - In May, we sent out letters directly to Prime Minister Boris Johnson, Secretaries of State for Health, Education and Work and Pensions, as well as to the devolved administrations. We have received a letter from Robin Swann, Minister of Health, Northern Ireland. Read letter here Further reading How you can get involvedOpen letter from the First Minister
- [Living with Duchenne at 42 with Bryan Purdue](https://www.actionduchenne.org/living-with-duchenne-at-42-with-bryan-purdue/) - Bryan talked about his life, family and friends, making decisions, positivity, aspirations, achievements, going to University, the world of work, and now his volunteer role as Lead Contributor for us. Thank you Bryan for sharing your experiences with us!
- [Scottish Powerchair Football Association cheque presentation](https://www.actionduchenne.org/scottish-powerchair-football-association-cheque-presentation/) - Massive thanks to Action Duchenne for coming up to give us a donation, much appreciated and we hope you enjoy watching some Powerchair Football It was an honour to present a cheque for £1,000 to Willie Pettigrew, Chair at the SPFA. Our Head of Research Neil Bennett and Dedicated Grandparent and Scottish Advocacy Officer John
- [Cross Party Group meeting on Palliative Care](https://www.actionduchenne.org/cross-party-group-meeting-on-palliative-care/) - On 5 June 2019, Our Scottish Advocacy Officer John Miller attended the Cross Party Group meeting on Palliative Care. This meeting explored the future of bereavement care in Scotland, with a series of short presentations: Meeting agenda Sue Ryder Report: A Better Grief Elinor Jayne, Head of Influencing, Sue Ryder Elinor's slides Developing a Charter on
- [It's easy to start fundraising with JustGiving](https://www.actionduchenne.org/its-easy-to-start-fundraising-with-justgiving/) - Guide to setting up your page It's quick and easy to set up a Fundraising Page for Action Duchenne. Just follow the steps below: 1. Log into your account and click ‘Start Fundraising'. 2. When asked 'Are you fundraising for a registered charity?', select 'Yes, continue'. 3. Search for the cause
- [80s quiz night raises over £720!](https://www.actionduchenne.org/80s-quiz-night-raises-over-720/) - Sam and Lynnette joined 30 other 80s fans on Lizzie Deeble's 80s quiz night on Friday. It was a great night, with lots of laughs and brilliant question rounds, from 80s toys, to music, bands and films. It was very nostalgic, especially as everyone had made such an effort to dress up in 80s outfits.
- [Shining a spotlight on Nick Heathcote](https://www.actionduchenne.org/shining-a-spotlight-on-nick-heathcote/) - We are delighted to share Nick's story, where he talks about his 100 mile challenge and the incredible young man who inspires him. My story My name is Nick Heathcote and I'm a Captain with Thomson Airways. Sam is a healthy 16 year old boy, with a normal life expectancy. His passion is Rugby. He
- [Uncle Matt's 100km challenge](https://www.actionduchenne.org/uncle-matts-100km-challenge/) - Matt's story; I will be running 100km (62.13 miles) to raise money for Duchenne research. The research carried out will hopefully slow the progression of the condition (Duchenne muscular dystrophy) and maybe even cure it, in the summer of 2019 my nephew Teddy was diagnosed with this condition. Approximately 100 boys per year are born with
- [Send us your questions](https://www.actionduchenne.org/send-us-your-questions/) - In May, we launched our COVID-19 campaign #weneedanswers where we asked the Prime Minister, Secretaries of State for Health, Education and Work and Pensions, as well as to the devolved administrations for answers and advice for those shielding. Following a number of responses, we have secured a meeting with the Cabinet Secretary for Health and
- [Duchenne Physiotherapy Q&A and recap webinar 6 with Marion Main](https://www.actionduchenne.org/duchenne-physiotherapy-qa-and-recap-webinar-6-with-marion-main/) - Thank you to everyone who joined us online for our FREE webinar with Senior Physiotherapist at GOSH, the fantastic Marion Main. Marion, as ever was engaging, interesting and full of decades of knowledge. She talked about many subjects including; 33 minutes - why do I need to wear my splints? 40 minutes - tendon release
- [Open letter from Deputy First Minister and Cabinet Secretary for Education and Skills](https://www.actionduchenne.org/open-letter-from-deputy-first-minister-and-cabinet-secretary-for-education-and-skills/) - In May, we sent out letters directly to Prime Minister Boris Johnson, Secretaries of State for Health, Education and Work and Pensions, as well as to the devolved administrations. We have received a letter from John Swinney, Deputy First Minister and Cabinet Secretary for Education and Skills in response to our letter. Read letter here Further reading
- [Open letter from Department of Education, Northern Ireland](https://www.actionduchenne.org/open-letter-from-department-of-education-northern-ireland/) - In May, we sent out letters directly to Prime Minister Boris Johnson, Secretaries of State for Health, Education and Work and Pensions, as well as to the devolved administrations. National Director, Florence Boulton has received a letter from Ricky Irwin, Director of Inclusion and Well-being, Department of Education, Northern Ireland in response to her letter.
- [How to get the most out of your online appointments](https://www.actionduchenne.org/how-to-get-the-most-out-of-your-online-appointments/) - As part of our 'supporting you through COVID-19 and beyond' webinar series, we are absolutely delighted to bring you two expert speakers from Alder Hey Children's Hospital, Liverpool. About the speakers It gives us great pleasure to welcome Dr Stefan Spinty, Consultant Paediatric Neurologist at Neuromuscular Centre of Excellence, Alder Hey. Long-time friend of Action
- [Meeting with Genetic Alliance - COVID-19 information hub](https://www.actionduchenne.org/meeting-with-genetic-alliance-covid-19-information-hub/) - We joined 21 other organisations at a meeting on 15 June, held by the Genetic Alliance UK. The aim of the meeting was to gather information to feedback to the Scottish Government to help them make decisions about when and how to ease guidance on shielding. Lynnette, our Community Fundraising & Support Officer/Duchenne Parent was
- [A Life Fulfilled In Everyway (ALFIE)](https://www.actionduchenne.org/a-life-fulfilled-in-everyway-alfie/) - By Duchenne Dad, Kieron Sales Hello again! First of all I’d just also like to say a big thank you to everyone that has taken time to read my blog. I really appreciate all your support and your positive comments. You always worry when you start something new, how it will be perceived by others.
- [Physiotherapy webinar 5 with Marion Main (looking after parents/carers)](https://www.actionduchenne.org/physiotherapy-webinar-5-with-marion-main-looking-after-parents-carers/) - Thank you to everyone who joined us online for our FREE webinar with Senior Physiotherapist at GOSH, the fantastic Marion Main. Marion talked to us about the importance of keeping ourselves healthy, sharing her knowledge to help us with tips and tricks, such as using swivel boards, sleep, how to work with your physiotherapist, 'battles'
- [#ADCONF20 announcement](https://www.actionduchenne.org/adconf20-announcement/) - We want to announce that the Action Duchenne International Conference will take place online this year. Following the Government's latest update, it is clear that the lockdown restrictions will be lifted very slowly and it’s very likely that the COVID-19 virus will still be circulating in November. After thoughtful discussions with our Board of Trustees
- [Hope, music and making things happen despite Duchenne](https://www.actionduchenne.org/alexjamesvlog1/) - By Alex James Hello everyone, I hope you are all very well. This vlog was specially requested by Action Duchenne of me in the flesh, talking briefly about myself and my diagnosis of Duchenne Muscular Dystrophy. For those that are new to this, eventually you will come to the understanding that this isn't the end. The condition
- [2 Years since the Diagnosis: Positive Experiences](https://www.actionduchenne.org/2-years-since-the-diagnosis-positive-experiences/) - By David Taylor. In May 2018, our son Edward (who was 2 ½ at the time) was diagnosed with Duchenne Muscular Dystrophy. I have struggled with many aspects of life since the diagnosis, including the following: Overcoming and accepting the diagnosisAnxiety and depressionDifficulties at work after telling them about the situation (I had to move
- [Physiotherapy webinar 4 with Marion Main (splints & orthotics)](https://www.actionduchenne.org/physiotherapy-webinar-4-with-marion-main-splints-orthotics/) - Thank you to everyone who joined us online for our FREE webinar with Senior Physiotherapist at GOSH, the fantastic Marion Main. It was fascinating and full of important information about orthotics, splints and care. Marion is joining us each fortnight covering different topics; Further information Helping you through COVID-19Inspiration to help you fundraise during isolationHow
- [National charity launches campaign for COVID-19 answers](https://www.actionduchenne.org/national-charity-launches-campaign-for-covid-19-answers/) - PRESS RELEASE Action Duchenne, the first national charity established to support those living with Duchenne muscular dystrophy (DMD), has launched a campaign demanding Covid-19 answers from government. Life expectancy for those living with the muscle wasting condition is typically 25-30 years and as part of the highest risk group, have been shielding at home. Recent
- [Open letter from the First Minister of Scotland](https://www.actionduchenne.org/open-letter-from-the-first-minister-of-scotland/) - Advice for those Shielding Thank you for your email and attached letter of 18th of May to the First Minister regarding shielding advice for families affected by Duchenne muscular dystrophy. As your concerns fall within my policy area I have been asked to reply. I know that this is a very worrying time, especially for
- [Things like this dont happen....do they?](https://www.actionduchenne.org/things-like-this-dont-happen-do-they/) - by Kieron Sales It's June 2018, I'm in Manchester with my wife, Louise. She's doing a bit of clothes shopping and trying some outfits on. I meanwhile, am being the typical bloke and sitting outside the changing room browsing on my phone to check the latest football scores! On my Twitter feed I come across
- [Take part in important survey](https://www.actionduchenne.org/impact-of-covid-19-on-transition-planning-for-young-people-with-additional-support-needs/) - Impact of COVID-19 on transition planning for young people with additional support needs ARC Scotland, Lead Scotland and Contact have developed a questionnaire for parent carers to complete on the key subject of transition for young disabled people during COVID-19. The aim is to find out from parents and carers how COVID-19 is impacting transitions planning for young people
- [The Vampires Diaries' Kat Graham supports charity single](https://www.actionduchenne.org/the-vampires-diaries-kat-graham-supports-charity-single/) - Musician, actress and producer, Kat Graham has congratulated Jonathon Inkin on the launch of his charity single 'Horizons'. In the beautiful video, she thanks Jonathon for everything he is doing to raise the profile of Duchenne muscular dystrophy. Donate to Jonathon's page Kat Graham is best known for her role as Bonnie Bennett on The
- [Looking forward to meeting again](https://www.actionduchenne.org/looking-forward-to-meeting-again/) - A message from the National Director, Florence Boulton It was a relief this weekend to hear the Prime Minister announce the start of a process for easing lockdown restrictions. We know that this will be a long, slow process, especially for families living with Duchenne, and we will keep reviewing our recommendations and advice for
- [Staying active during lockdown](https://www.actionduchenne.org/staying-active-during-lockdown/) - By Daniel Miller Since I was small, I have always been fascinated by history and have enjoyed visiting museums, with lots of great museums and local history nearby. This led to me study History and Archaeology at Newcastle University and then to gain a Masters degree in Museum Studies. I began volunteering at Beamish Museum
- [One point at a time, that's the idea](https://www.actionduchenne.org/one-point-at-a-time-thats-the-idea/) - By Bryan Purdue Hi everyone, hope you are all well and safe! I wanted to discuss what’s happening in the world from my point of view. Like everyone I’m scared of what’s going on especially as I’m at very high risk. At first it was very confusing, before the lockdown my family and I decided on Thursday 12 March that I should
- [Learning and behaviour in Duchenne - watch webinar](https://www.actionduchenne.org/learning-and-behaviour-in-duchenne-watch-webinar/) - For those who missed the live webinar you have the opportunity to watch highly respected friend of the Duchenne community, and Duchenne Dad James Poysky, PHD present his exclusive webinar. Dr Poysky is an internationally recognised expert on Duchenne and is a regular presenter at the Action Duchenne International Conference, hosting his hugely popular and insightful
- [Physiotherapy webinar 1 with Marion Main (Isolate don't vegetate) AUDIO ONLY](https://www.actionduchenne.org/physiotherapy-webinar-1-with-marion-main-isolate-dont-vegetate-audio-only/) - Thank you to everyone who joined us online for our FREE webinar with Senior Physiotherapist at GOSH, the fantastic Marion Main. It was a fun, informative and engaging session with plenty of great questions from the audience. I came away from the 2 hours with pages and pages of ideas on how to keep my
- [Physiotherapy webinar 2 with Marion Main (making stretches fun)](https://www.actionduchenne.org/physiotherapy-webinar-2-with-marion-main-making-stretches-fun/) - Thank you to everyone who joined us online for our FREE webinar with Senior Physiotherapist at GOSH, the fantastic Marion Main. It was packed full of important hints and tips about what to do and what not to do with your child's stretches. Marion is joining us each fortnight covering different topics; Further information Helping
- [Physiotherapy webinar 3 with Marion Main (exercises on the floor and in chairs)](https://www.actionduchenne.org/physiotherapy-webinar-4-with-marion-main-exercises-on-the-floor-and-in-chairs/) - Thank you to everyone who joined us online for our FREE webinar with Senior Physiotherapist at GOSH, the fantastic Marion Main. It was packed full of important hints and tips about how to safely do stretches with children and young people living with Duchenne. Marion is joining us each fortnight covering different topics; Further information
- [North Eastern lad releases debut single](https://www.actionduchenne.org/north-eastern-duchenne-lad-releases-debut-single/) - We are excited to share with you the debut single from the super talented, Newcastle lad Alex James. Being in a wheelchair performing is pretty awesome because it looks so different to what people are used to. Alex James Influenced by indie rock bands such as Foo fighters, Royal Blood and Sam Fender, ‘Direction’ blends
- [IMPaCCt Study - Investigating the impact of COVID-19 on Caregivers and patients.](https://www.actionduchenne.org/impacct-study-investigating-the-impact-of-covid-19-on-caregivers-and-patients/) - Researchers at Queen’s University Belfast and University of Aberdeen are conducting an online international survey to gain an understanding of the impact COVID-19 is having on people with a rare disease and their caregivers. This survey is open to all patients and caregivers aged 18 years or older. To participate in this study, you
- [Translarna MAA COVID-19 update](https://www.actionduchenne.org/translarna-maa-covid-19-update/) - Translarna can treat Duchenne caused by a nonsense mutation (about 10-13% of cases). The drug is available in England and Wales via a Managed Access Agreement - which gives patients access to the drug, while more data is collected about its effectiveness. The latest update on the Translarna Managed Access Agreement focuses on the COVID-19
- [Patron Martin Bashir backs fundraising single](https://www.actionduchenne.org/patron-martin-bashir-backs-fundraising-single/) - We are incredibly excited to announce details of ‘Horizons’, an inspirational new song, recorded by Jonathon Inkin, a 21 year old living with Duchenne muscular dystrophy. Duchenne is a severe muscle-wasting and life-limiting condition and ‘Horizons’ was cowritten by Jonathon with his sister, Louise Cook. Jonathon lives in Cornwall and made waves on social media
- [CHMP Adopts Positive Opinion for the Expansion of the Translarna (ataluren) Label to Include Patients as Young as 2 Years of Age](https://www.actionduchenne.org/chmp-adopts-positive-opinion-for-the-expansion-of-the-translarna-ataluren-label-to-include-patients-as-young-as-2-years-of-age/) - - European Commission ratification anticipated in coming months - - Approval of the Translarna annual re-assessment also recommended by CHMP -
- [Short-term and one-off volunteer tasks available](https://www.actionduchenne.org/short-term-and-one-off-volunteer-tasks-available/) - No commitment needed, we'll use your skills to help make a difference. Have you been furloughed?Can you spare us a couple of hours?Don't want the commitment of a Volunteer role, but want to help? Now is your chance to really use your time for good. We are looking for people to help us with short-term or
- [Scottish Parliment Members Debate - Scottish Powerchair Association](https://www.actionduchenne.org/scottish-parliment-members-debate-scottish-powerchair-association/) - Wednesday 6th February 2019 saw another huge step in the development and progression of the Scottish Powerchair Football Association (SPFA). After several visits to the Scottish Parliament in 2018 and a presentation to the Cross Party Disability group chaired by MSP Jeremy Balfour, the SPFA were successful in obtaining a members debate within the Scottish
- [National Campaign - Save the UK's Charities](https://www.actionduchenne.org/the-2-6-challenge-save-the-uks-charities-campaign/) - The Covid-19 pandemic has had a catastrophic effect with the cancellation of thousands of events and the loss of billions in income through fundraising events. The Virgin Money London Marathon alone, which should have taken place on Sunday 26 April, is the world’s biggest one-day fundraising event, which raised more than £66.4 million for thousands
- [Virtual Bingo](https://www.actionduchenne.org/virtual-bingo/) - We've got an easy way to run virtual bingo games as you and your friends cannot play together in person. It's free up to 30 players! Simply download the virtual cards and caller's card below to get started. Download cards here How to make it happen? Set a date, give your players at least a
- [#DAY18OFISOLATION](https://www.actionduchenne.org/day18ofisolation/) - A blog by Duchenne Mum - Ashley 18 days ago I made the decision for my family to take everyone out of school/nursery, some may think I was a little early or being dramatic. The days are long and sometimes boring but mostly we have fun and are enjoying the time together. We have filled
- [Isolation for the nation](https://www.actionduchenne.org/isolation-for-the-nation/) - A blog by Duchenne Dad, Darren Well, CV19 is here, so what do we do about it, how will we fill our time, how do we alleviate the boredom of self isolation? It’s a great question, a question we have seen posted on all media sites and even a quote we have said to ourselves,
- [Supporting families – Lynnette’s perspective](https://www.actionduchenne.org/supporting-families-lynnettes-perspective/) - In April 2016, 6 months after my son was diagnosed with Duchenne muscular dystrophy, I joined the Action Duchenne team. I felt I had to do something to help the scores of families navigating this journey which I had found myself on. 4 years later, I am a part of an incredible small, yet powerful
- [Advice for Emergency Care](https://www.actionduchenne.org/advice-for-emergency-care/) - Children with DMD experience the normal childhood illnesses and accidents. But, because their muscles are weaker, some things are more serious for them than other children. In an emergency, you can use the Duchenne A&E emergency website to provide ambulance officers, nurses and doctors with the relevant information they need to treat someone with Duchenne Muscular Dystrophy
- [Latest results from Solid gene therapy trial](https://www.actionduchenne.org/latest-results-from-solid-gene-therapy-trial/) - Solid Biosciences have today released an update on their clinical trial of a gene therapy for Duchenne. The IGNITE DMD trial is an early stage clinical trial investigating the safety of a potential gene therapy - called SGT-001 - for Duchenne. The company has announced the results seen from a third patient treated with the
- [Take part in quality of life research for Duchenne](https://www.actionduchenne.org/take-part-in-research-study-looking-at-the-impact-of-duchenne-on-family-carers/) - Acaster Lloyd, an independent research consultancy, are carrying out research looking at the impact of Duchenne on family carers, including people's experience with licenced treatments, like Translarna.The study will involve an interview with a researcher which would take around 1 to 1.5 hours and can be conducted by telephone, over Skype or in person. Participants
- [Raising the profile of Duchenne with Primary School pupils on Rare Disease Day](https://www.actionduchenne.org/raising-the-profile-of-duchenne-with-primary-school-pupils-on-rare-disease-day/) - Lizzie, Duchenne Mummy and one of Action Duchenne's volunteer Community Champions, was asked to go into her son’s school to give a talk about Duchenne to all the pupils in their morning assembly. Lizzie had previously been to speak in a staff meeting and the school team were keen that pupils learn more about what
- [Hundreds inspired by Duchenne Science on Tour project](https://www.actionduchenne.org/hundreds-inspired-by-duchenne-science-on-tour-project/) - We recognised that keeping up with research news can be challenging, with news stories and press releases using language that's much more complicated than it needs to be! To help our families understand the research and clinical trials process we launched the Duchenne Science on Tour series. 18 venues across the UK Our Head of Research Neil, along with a
- [Revised Standards of Care for Duchenne muscular dystrophy](https://www.actionduchenne.org/revised-standards-of-care-for-duchenne-muscular-dystrophy/) - Action Duchenne originally co-funded the translation of the original standard of care guidelines, into the widely used family guide and continues to be at the forefront of these developments.
- [Update on our campaigning work](https://www.actionduchenne.org/update-on-our-campaigning-work/) - As part of our vision of a world where lives are no longer limited by Duchenne muscular dystrophy, one of our key objectives is campaigning for equality for disability. Campaigning has become ever increasingly important as restrictions on funding limit a whole range of areas for those who live with Duchenne - be it the
- [An unforgettable weekend at #ADCON19](https://www.actionduchenne.org/an-unforgettable-weekend-at-adconf19/) - Thank you to each and every person who attended the Action Duchenne International Conference 2019. We have all had such a wonderful weekend with you all, we've laughed, cried, shared support, information and learned so much. It's always sad to say goodbye to you all, but we are looking forward to 2020! Please look out
- [Thank you for helping us build a community](https://www.actionduchenne.org/thank-you-for-helping-us-build-a-community/) - Wow, we've had a busy few weeks here at AD HQ, delivering one of our 3 key objectives of 'building a community'. Our team have barely touched the ground. Science on Tour We've brought the hugely successful, Science on Tour events to London, Norwich, Leeds, Newcastle, Port Talbot and Bristol over September and October. Advocacy
- [Visit to Royal Holloway](https://www.actionduchenne.org/visit-to-royal-holloway/) - Yesterday, we were delighted to be a part of the Royal Holloway University of London's Rare Disease Day event. Neil and Helen were inspiring the next generation of researchers and clinicians with interactive experiments and demonstrations (not unlike what you could expect to take part in at the Science on Tour events!). We have been
- [Rare Film Festival](https://www.actionduchenne.org/rare-film-festival/) - Last week Action Duchenne attended the inaugural Rare Film Festival, hosted by Rare Disease UK. One of the sponsoring companies, PTC Therapeutics (who sponsored the ‘Best Charity Film’ category), also produced a short film entry in collaboration with the US organization, CureDuchenne. This film focused on the importance of gaming for those living with Duchenne and was
- [Give your heart to Bertie's ball](https://www.actionduchenne.org/give-your-heart-to-berties-ball/) - It was an honour to attend the 'Give Your Heart to Bertie's Ball' organised by the wonderful Tracey Keilty and Kayleigh Coulson. Their commitment and determination to make a difference to the lives of all those living with Duchenne muscular dystrophy is truly remarkable. Working tirelessly with one very special little boy in their hearts,
- [A warm welcome message from our new National Director](https://www.actionduchenne.org/a-warm-welcome-message-from-our-new-national-director/) - I am delighted to have been appointed as National Director of Action Duchenne. It is an honour to become part of a charity so dedicated to making a positive difference. Since volunteering at the Action Duchenne International Conference in November, I have been inspired to see how Action Duchenne’s work is respected by our stakeholders.
- [Welcome to our new National Director](https://www.actionduchenne.org/welcome-to-our-new-national-director/) - We are delighted to welcome Florence Boulton to Action Duchenne as our new National Director. Florence has considerable leadership and operational experience in the not for profit sector with a particular focus in youth and education programmes, in the UK and overseas. Florence has worked at the most senior levels in a number of organisations
- [How many people with Duchenne might be eligible to receive idebenone in England?](https://www.actionduchenne.org/how-many-people-with-duchenne-might-be-eligible-to-receive-idebenone-in-england/) - In May 2019 Santhera Pharmaceuticals submitted an application for a European Marketing Authorisation for Puldysa® (idebenone) for the treatment of respiratory dysfunction in patients with Duchenne muscular dystrophy (DMD). NICE (National Institute of Clinical Excellence), the organization responsible for deciding what treatments are recommended for funding by the NHS, have now initiated the process for
- [Update on UNITE-DMD project](https://www.actionduchenne.org/update-on-unite-dmd-project/) - The UNITE-DMD project, which we are co-funding alongside Muscular Dystrophy UK and AFM-Téléthon brings together several strands of research to establish a gene therapy trial in the UK and further develop gene therapy approaches. Preparatory work for the clinical trial The preparatory work for the clinical trial is continuing and progressing well. Professors Francesco Muntoni
- [Sarepta Therapeutics and Roche to partner on gene therapy](https://www.actionduchenne.org/sarepta-therapeutics-and-roche-to-partner-on-gene-therapy/) - Sarepta Therapeutics and Roche have announced that they will be working in partnership to develop Sarepta’s potential gene therapy for Duchenne muscular dystrophy outside the US. Sarepta will continue to organise the clinical trials of the potential gene therapy (called SRP-9001) in Duchenne muscular dystrophy. The trials are currently in an early phase, but following
- [Golodirsen gains conditional approval in US](https://www.actionduchenne.org/golodirsen-gains-conditional-approval-in-us/) - Sarepta Therapeutics has announced that the FDA (the medicines regular in the US) has granted accelerated approval to golodirsen. Golodirsen, or Vyondys 53 as it will be known, is an exon skipping drug designed to skip exon 53 of the dystrophin gene. It has the potential to treat approximately 8% of people living with Duchenne.
- [Wave halts development of exon skipping drugs](https://www.actionduchenne.org/wave-halts-development-of-exon-skipping-drugs/) - Wave has today announced that they have discontinued the clinical program of suvodirsen (designed to skip exon 51 of the dystrophin gene) and are suspending further development of a potential drug designed to skip exon 53 of the dystrophin gene. Wave has just completed an analysis of dystrophin levels in the muscles of participants in
- [Welcome to our new Company Secretary](https://www.actionduchenne.org/welcome-to-our-new-company-secretary/) - Action Duchenne is delighted to announce the appointment of Victoria Penrice as Company Secretary and trustee. Victoria is joining us at an exciting time and will be playing a key role in the future of Action Duchenne. Victoria is Vice-President of the Chartered Governance Institute’s Governing Committee and qualified as a chartered secretary over 20
- [Jonathan raises the profile of Duchenne](https://www.actionduchenne.org/jonathan-raises-the-profile-of-duchenne/) - Our amazing community have really got behind Jonathon Inkin singing his beautiful rendition of Jingle Bells. Jonathon is raising money for Action Duchenne and has a goal of 50,000 likes and 20,000 shares. You can contribute to his Facebook fundraising here. Read Jonathon's story
- [Duchenne Patient Academy in Athens](https://www.actionduchenne.org/duchenne-patient-academy-in-athens/) - Last week our Trustee, Gary Fegan, was honoured to join delegates from Duchenne patient organisations from more than 40 countries worldwide at the Duchenne Patient Academy in Athens. It was a packed weekend covering everything from ReveraGen's venture philanthropy model, advanced lobbying techniques within the EU, to studies in the correct sitting positions in wheelchairs. Gary said
- [3 months until the Action Duchenne International Conference 2019](https://www.actionduchenne.org/3-months-until-the-action-duchenne-international-conference-2019/) - We are super excited here at AD HQ that there are only 3 short months to go before #ADConf19! We will begin to announce our speakers tomorrow who will all play a part in delivering our varied and full Agenda. Come and join 500 people from all over the world at the Action Duchenne International
- [Latest results from Vamorolone trials](https://www.actionduchenne.org/latest-results-from-vamorolone-trials/) - A late-breaking presentation at the 24th International Annual Congress of the World Muscle Society (WMS) in Copenhagen, Denmark reported top-line data from 18-month treatment of Duchenne muscular dystrophy (DMD) patients (VBP15-LTE trial). The data was presented by Dr. Eric Hoffman, CEO of ReveraGen. Motor outcome results At the WMS presentation, Dr. Hoffman reported motor function
- [Vamorolone gains Promising Innovative Medicine status](https://www.actionduchenne.org/vamorolone-gains-promising-innovative-medicine-pim-designation/) - We’re happy to announce that the MHRA (the medicines regulator in the UK) has given Promising Innovative Medicine (or PIM) status to Vamorolone as a treatment for Duchenne Muscular Dystrophy. Designating a drug as a Promising Innovative Medicine is the first step in the Early Access to Medicines scheme. In the UK, the Early Access
- [Sarepta issues clinical trials update](https://www.actionduchenne.org/sarepta-clinical-trials-update/) - In recent press releases, Sarepta Therapeutics has given updates on their ongoing clinical trial programmes. These include exon skipping and gene therapy trials for Duchenne. Exon Skipping Sarepta has announced that the first participant in the Phase 2 trial of SRP-5051 has received the trial drug. Designed to skip exon 51 of the dystrophin gene,
- [Vamorolone trial results published](https://www.actionduchenne.org/vamorolone-trial-results-published-2/) - Earlier this week the results of an early trial of vamorolone in boys with Duchenne have been published in the Neurology scientific journal. Vamorolone is a potential treatment that researchers hope might offer the benefits of steroids with reduced side effects. It was developed with funding from many charities and funding bodies including Action Duchenne.
- [Highlighting the importance of treatments for all](https://www.actionduchenne.org/letter-highlighting-the-importance-of-treatments-for-all/) - We recently wrote to the Medicines and Healthcare Products Regulatory Agency (MHRA) - the UK drug regulator - to highlight the importance of treatments that could slow muscle wasting for people living with Duchenne who have lost the ability to walk. In our letter, we explained that the teens and adults we have the pleasure
- [World Duchenne Awareness Day](https://www.actionduchenne.org/world-duchenne-awareness-day-2019/) - Our Patron, Harry Hill and Ambassador, Jonny Gould share their messages on World Duchenne Awareness Day.
- [Wave gives suvodirsen update](https://www.actionduchenne.org/wave-gives-suvodirsen-update/) - Wave Life Sciences announced earlier this week that Suvodirsen has been granted fast track approval by the Federal Drug Administration (the drug regulator in the US). Suvodirsen is a potential treatment for Duchenne that is designed to skip exon 51 of the dystrophin gene. This could help approximately 13% of people living with the condition
- [Information about Translarna MAA](https://www.actionduchenne.org/information-about-translarna-maa/) - We’re working with Muscular Dystrophy UK to make sure that emerging treatments for Duchenne get to those who need them, as quickly as possible. Since 2016, our organisations have been representing your interests at ongoing review meetings, monitoring the progress of the Translarna (also known as ataluren) managed access agreement (MAA). The meetings involve clinicians,
- [Where’s my chair?](https://www.actionduchenne.org/wheres-my-chair/) - Action Duchenne’s Where’s my chair? campaign set out to achieve full wheelchair access for people living with Duchenne. We had a fantastic response from both families and health practitioners to our survey earlier this year and we will be reporting soon on the findings of our research. We are currently meeting with key NHS professionals
- [Accident and Emergency Admissions](https://www.actionduchenne.org/accident-and-emergency-admissions/) - Simon and Shelley had a very productive meeting with the NHS Digital team last week who lead on data gathering and analysis. This forms a key part of our work to understand the extremely variable experiences of those living with Duchenne in accessing hospital via Accident and Emergency Departments. During some Freedom of Information requests
- [Cross Party Group meeting on Rare, Genetic and Undiagnosed Conditions](https://www.actionduchenne.org/cross-party-group-meeting-on-rare-genetic-and-undiagnosed-conditions/) - Last week Action Duchenne attended a meeting of the Cross Party Group on Rare, Genetic and Undiagnosed Conditions at the Scottish Parliament. The meeting was organised by Genetic Alliance UK (GAUK), a national charity working to improve the lives of patients and families affected by all types of genetic conditions, with an alliance of over
- [Patron Martin Bashir to feature in Celebrity X Factor](https://www.actionduchenne.org/patron-martin-bashir-to-feature-in-celebrity-x-factor/) - We are excited to share with you that our Patron, Martin Bashir, is featuring in the forthcoming Celebrity X Factor series in the 'OVERS' category! Martin is taking part in the show for one very heartfelt reason - in memory of his older brother Tommy, who had Duchenne muscular dystrophy. Growing up with Duchenne Martin knows
- [Solid gene therapy trial placed on hold](https://www.actionduchenne.org/solid-gene-therapy-trial-placed-on-hold/) - Solid BioSciences has announced that the IGNITE DMD trial - a Phase I/II clinical trial of the company’s SGT-001 gene therapy - has been placed on hold by the FDA (the medicines regulator in the US) after a participant experienced severe side effects (called a severe adverse event or SAE). Solid announced plans to increase
- [A message from our Patron, Harry Hill](https://www.actionduchenne.org/a-message-from-our-patron-harry-hill/) - Harry Hill, one of our amazing Patrons, sent us a video which we proudly played at the Gala Dinner on Friday at the Action Duchenne International Conference 2019. What a great guy! Thank you Harry for all your support and for giving our families so many laughs and inspiration.
- [GA Solicitors - Charity of the Year](https://www.actionduchenne.org/ga-solicitors-charity-of-the-year/) - We were delighted to be chosen as Charity of the Year by Plymouth law firm GA Solicitors. As part of their fundraising the team organised quizzes, curry nights, bake sales and a raffle, just to name a few. Even taking part in the Lions Club Swimathon! Together they raised £2,300 an incredible amount which is
- [Stoke by Nayland charity golf day](https://www.actionduchenne.org/stoke-by-nayland-charity-golf-day/) - On Saturday the 8th of June the Stoke by Nayland Golf Club men's captain, John Sandford, held his charity day in support of Action Duchenne. 34 pairs took part on the day, with overall winners Jason Hoggarth and Brian Roloff scoring 47 points, 5 clear of second place. Thank you to Ian Collett and his
- [Presenting Duchenne to our future physios](https://www.actionduchenne.org/presenting-duchenne-to-our-future-physios/) - Our vision is very clear, a world where lives are no longer limited by Duchenne muscular dystrophy. In our ongoing work to achieve this vision, along with funding cutting edge research into potential treatments for all, and supporting our families, we shout very loudly about life with Duchenne; relishing opportunities to advocate to a range
- [Advocacy at a Norfolk Primary school](https://www.actionduchenne.org/advocacy-at-eastern-primary-school/) - Our Patient Advocate and Registry Curator, Angela Stringer attended a meeting this week in a Norfolk primary school to support a Duchenne family. EHCP meeting The family approached Action Duchenne to help them navigate the Education Health and Care Plan (EHCP) process for their son who lives with Duchenne muscular dystrophy. Angela was delighted to
- [Conference registration open](https://www.actionduchenne.org/conference-registration-is-open/) - Sign up today for the most amazing weekend of knowledge, power, support, education, community and hope. We've worked tirelessly to bring you the most relevant, interesting and valuable sessions at this year's conference. We want you to have the best experience so have made sure the accommodation caters for all budgets, there is childcare for
- [Sarepta Therapeutics gene therapy trial to continue](https://www.actionduchenne.org/sarepta-therapeutics-gene-therapy-trial-to-continue/) - The FDA has lifted the Clinical Hold that was issued to Sarepta Therapeutics phase I/II gene therapy trial
- [Gene therapy trial update from Solid](https://www.actionduchenne.org/gene-therapy-trial-update-from-solid/) - Solid Biosciences has announced that the next stage of their clinical trial of a gene therapy has started, following the dose increase announced in February. The early stage phase 1 clinical trial is testing the safety of a potential gene therapy called SGT-001. During the trial, each participant receives a single dose of the potential
- [Trevor and Lucy become Ambassadors for Action Duchenne](https://www.actionduchenne.org/trevor-and-lucy-become-ambassadors-for-action-duchenne/) - We are delighted to announce our friends and long-time supporters of the charity, Trevor and Lucy, are our new Action Duchenne Ambassadors!
- [Advocacy at a North West Primary School](https://www.actionduchenne.org/advocacy-at-school/) - Hot on the heels of her presentation to the group of Trainee Physiotherapists last week, Lynnette donned her Advocacy hat again and travelled to the North West to meet with a Duchenne family and school yesterday. The school had approached Action Duchenne to help the team gain more knowledge and understanding of Duchenne muscular dystrophy
- [Roche halts development of myostatin inhibitor](https://www.actionduchenne.org/roche-halts-development-of-myostatin-inhibitor/) - Roche have announced the completion of a planned, interim analysis of the data from their trials of their myostatin inhibitor (called RG6206). The analysis shows that it is unlikely that the drug will meet the goals of the trial, and as a result Roche have halted the clinical development programme. Importantly, no serious side effects
- [Statement from the Board of Trustees](https://www.actionduchenne.org/statement-from-the-board-of-trustees/) - Action Duchenne does not routinely reply directly to comments on social media. However, given the understandable interest of the community following a number of recent posts, on this occasion the board would like to provide this clarification. Social media postings The trustees, staff and supporters of Action Duchenne have been disappointed at some of the
- [Conference agenda released](https://www.actionduchenne.org/agenda-release/) - We are excited to release our long awaited Agenda for #ADconf19! We have carefully aligned our Agenda this year with our three core objectives - developing effective treatments for all, building a community and striving for a more inclusive society - and we hope there will be something for everyone, no matter where on the
- [Gene silencing and Duchenne](https://www.actionduchenne.org/gene-silencing-and-duchenne/) - You might have seen news stories about gene silencing, and how the NHS has agreed to fund it as a treatment for a condition called amyloidosis. Gene silencing is very different to gene therapy and gene editing, and it’s something lots of people won’t have heard of. We know that any genetic treatment is of
- [Simon Dadd new trustee](https://www.actionduchenne.org/simon-dadd-new-trustee/) - We are delighted to announce that Simon Dadd has joined our Board of Trustees. Simon has considerable knowledge of Duchenne, being the father of two boys, Tom (13) and Ben (6), living with DMD. Simon is a senior civil servant and works in London. I'm delighted to be joining the Board of Trustees. Action Duchenne
- [Rare disease genomes event](https://www.actionduchenne.org/rare-disease-genomes-event/) - Last week Neil attended a “demystifying genomes for patient registries” event hosted by Sano genetics. The event was meant to give charities in the rare disease field an insight into different ways to set up a registry and the challenges of each system. Sano genetics is a small company formed by a group of scientists from
- [Capricor publish interim results of HOPE-2 trial](https://www.actionduchenne.org/capricor-publish-interim-results-of-hope-2-trial/) - Capricor therapeutics has announced the results of their interim analysis of the phase 2 trial of CAP-1002 in Duchenne. The trial has recruited 17 participants, with 7 receiving CAP-1002 and 10 a placebo - an inactive form of the drug. So far, 12 participants have reached the 6 month point in the trial and muscle
- [PM launches new drive to tackle barriers faced by disabled people](https://www.actionduchenne.org/pm-launches-new-drive-to-tackle-barriers-faced-by-disabled-people/) - In June, the outgoing Prime Minister Theresa May announced a series of measures aimed at securing higher accessibility standards for new housing and greater workplace support for disabled people. Full article A consultation will also be launched on compulsory higher accessibility standards for new housing and modifications to the workplace. New planning guidelines for councils
- [MARVEL headline sponsor for Superhero Series](https://www.actionduchenne.org/marvel-headline-sponsor-for-superhero-series/) - The Superhero Series - the UK’s only mass-participation sports series dedicated to people with disabilities – will have a powerful boost this year, as Marvel is announced as the headline sponsor for the 2019 Superhero Tri (17th August). The competitive family fun event will feature Marvel Super Hero characters and storytelling to help participants find
- [Duchenne Dad cycles 282 miles in 24.5 hours](https://www.actionduchenne.org/duchenne-dad-cycles-282-miles-in-24-5-hours/) - A big congratulations to Alexis Ellison who cycled an astonishing 282 miles in 24.5 hours this weekend, completely unsupported. 2 years ago Lex, dad to Samson, Leo and Rosie, decided he wanted to do a big fundraiser for us, but didn't want to travel away from his family to do so (Samson, who lives with
- [EAMS renewed for Idebenone](https://www.actionduchenne.org/eams-renewed-for-idebenone/) - Santhera Pharmaceuticals has announced that the UK’s medicines regulator (the MHRA) has renewed the Early Access to Medicines Scheme (EAMS) for Idebenone in Duchenne. Idebenone will continue to be available to people living with Duchenne with respiratory decline, and who are not taking glucocorticoids. Idebenone has been available in the UK through EAMS since June
- [CPG meeting in Scottish Parliament](https://www.actionduchenne.org/cpg-meeting-in-scottish-parliament/) - Last week Shelley attended a Cross Party Group meeting at the Scottish Parliament with our Scottish Advocacy Officer, John Miller. They were joined at the meeting by Mark Chapman from DMD Pathfinders (pictured). The meeting was Chaired by Jackie Baillie MSP and included an update from Alison Strath (from the Scottish Government's Pharmacy & Medicines
- [Awesome Abseil tomorrow!](https://www.actionduchenne.org/awesome-abseil-tomorrow/) - Tomorrow, 13 amazing people will be abseiling 418 feet down the National Lift Tower in Northampton for Action Duchenne. Each have their own inspiration for facing their fears in this incredible challenge; some are friends of people living with Duchenne and their parents, some are family and some are Duchenne parents themselves. What they all
- [Shelley meets with Jonny Gould](https://www.actionduchenne.org/shelley-meets-with-jonny-gould/) - Yesterday Shelley met with Action Duchenne Ambassador and radio broadcaster, Jonny Gould. Since becoming an Ambassador in March 2019, Jonny has become a key voice and advocate for Duchenne, talking about the condition and our charity work on his radio shows and posting about us to his Twitter audience. Jonny’s second cousin lives with Duchenne
- [Santhera completes Puldysa EMA submission](https://www.actionduchenne.org/santhera-completes-puldysa-ema-submission/) - Santhera has submitted a marketing application to the EMA - the drug regulator in Europe - for Puldysa. Puldysa, which used to be called Raxone, is a potential treatment for breathing problems in patients with Duchenne who are not using steroids. The EMA did not approve a previous submission from Santhera. The company believes the
- [Parents present to healthcare officials](https://www.actionduchenne.org/parents-present-to-healthcare-officials/) - Last Friday, Lynnette Ellison our Community Fundraising & Marketing Officer presented Duchenne from a Parent's Perspective to healthcare officials in Wigan. Lynnette supported the Sales family at the meeting and together they shared first-hand knowledge into life with Duchenne, the importance of effective diagnosis procedures and how this can pave the way for the family's
- [Catabasis opens new UK sites in Edasalonexent trial](https://www.actionduchenne.org/catabasis-opens-new-uk-sites-in-edasalonexent-trial/) - Catabasis has announced that their trial of edasalonexent is now recruiting at 2 centres in the UK - in Bristol and Manchester. Two further sites in London will open soon.
- [World Duchenne Awareness Day 2018](https://www.actionduchenne.org/world-duchenne-awareness-day-2018/) - Tomorrow, 7th September, marks annual Duchenne Awareness Day – a day in which the entire community comes together with one clear mission – for our families and raising the profile of Duchenne muscular dystrophy to a wider audience.
- [Wave Life Sciences financial results and update](https://www.actionduchenne.org/wave-life-sciences-financial-results-and-update/) - The global Phase 1 clinical trial, testing WVE-210201 for the treatment of Duchenne muscular dystrophy (DMD) patients amenable to exon 51 skipping, continues to enroll patients. Safety data from the trial are anticipated in the third quarter of 2018.
- [Wave Life Sciences financial results and business update](https://www.actionduchenne.org/wave-life-sciences-financial-results-and-business-update/) - Wave Life Sciences Reports Fourth Quarter and Full-Year 2017 Financial Results and Provides Business Update
- [Wales joins the 100,000 Genomes Project](https://www.actionduchenne.org/wales-joins-the-100000-genomes-project/) - The project, now a UK-wide initiative, seeks to transform patient care, encourage genomic discovery and drive a thriving genomics sector.
- [Update on CHMP negative opinion for Raxone (idebenone)](https://www.actionduchenne.org/update-on-chmp-negative-opinion-for-raxone-idebenone/) - the European Medicines Agency’s (EMA) decision making processes, adopted a negative opinion, recommending the refusal of a change to the marketing authorisation for the medicinal product Raxone.
- ['Together for short lives' launches new transition checklist](https://www.actionduchenne.org/together-for-short-lives-launches-new-transition-checklist/) - ‘A checklist to a good transition’ is designed for seriously ill young people to assess how well agencies involved in their education and care are working together to enable a smooth transition.
- [The importance of seeking medical advice - Neuromuscular Research Nurse](https://www.actionduchenne.org/the-importance-of-seeking-medical-advice-neuromuscular-research-nurse/) - Although parents will have a lot of experience when their own child is unwell or advice on what medication regime they feel works best for their child, it is essential that for all medical related queries or problems that a health professional is approached.
- [The fight for Translarna goes on - Action Duchenne in parliamentary session](https://www.actionduchenne.org/the-fight-for-translarna-goes-on-action-duchenne-in-parliamentary-session/) - Action Duchenne shared a platform with the MPS Society in parliament in July 2015 to discuss the existing access barriers to medicines for patients with rare or ultra rare conditions. This event was chaired and supported by Greg Mulholland MP, who was an inspirational and leading figure in the ongoing campaign.
- [The impact of Translarna on our son and our family](https://www.actionduchenne.org/the-impact-of-translarna-on-our-son-and-our-family/) - The results have been every parent’s hope.
- [Ten posts in place to support UK clinical trial capacity - Newcastle plan](https://www.actionduchenne.org/ten-posts-in-place-to-support-uk-clinical-trial-capacity-newcastle-plan/) - The posts are at Great Ormond Street Hospital NHS Foundation Trust in London (GOSH), The John Walton Muscular Dystrophy Research Centre at Newcastle University, University Hospitals Bristol NHS Foundation Trust and Alder Hey Children’s Hospital in Liverpool.
- [Test with the Potential to More Reliably Screen for Duchenne in Newborns is Developed](https://www.actionduchenne.org/test-with-the-potential-to-more-reliably-screen-for-duchenne-in-newborns-is-developed/) - Researchers at Cardiff University, in collaboration with biotechnology company PerkinElmer, have created a more reliable test to screen newborn babies for Duchenne muscular dystrophy. Together they have developed a diagnostic kit that can analyse neonatal dried blood spots for the presence of Duchenne.
- [Teachers brave the Zipwire!](https://www.actionduchenne.org/teachers-brave-the-zipwire/) - This weekend saw an amazing group of teachers and supporters from Bruntcliffe Academy take on the world's fastest, and Europe's longest Zipwire.
- [Take part in ventilator study and earn £75](https://www.actionduchenne.org/take-part-in-ventilator-study-and-earn-75/) - Action Duchenne are helping SuAzio to recruit participants. By participating in an interview you will help to support companies with their research relating to Duchenne and will also increase the knowledge of Duchenne across the scientific community.
- [Synpromics announces Gene Therapy research partnership with Solid Biosciences](https://www.actionduchenne.org/synpromics-announces-gene-therapy-research-partnership-with-solid-biosciences/) - Sypromics have announced a new research partnership with Solid Biosciences.
- [Support for the Shippey family at their annual Golf Day](https://www.actionduchenne.org/support-for-the-shippey-family-at-their-annual-golf-day/) - 96 amazing golfers and a further 34 evening guests gathered to support the wonderful Shippey family at their second annual Cure4George charity golf day, together they raised a whopping £11,100 - wow! A huge thank you to Kerry, John and their gorgeous boys, to all those who helped organise and on the day, to those
- [Summit Presents New 24-Week Analyses from PhaseOut DMD trial](https://www.actionduchenne.org/summit-presents-new-24-week-analyses-from-phaseout-dmd-trial/) - Data show correlation between decrease in muscle damage and reduction in muscle inflammation in patients treated with ezutromid
- [Summit opens enrolment for people who have taken part in previous Ezutromid trials](https://www.actionduchenne.org/summit-opens-enrolment-for-people-who-have-taken-part-in-previous-ezutromid-trials/) - Today, Summit announced that they have opened enrolment in PhaseOut DMD to an additional group: those who have previously participated in Phase 1 clinical trials of ezutromid, but did not meet the entry criteria for the main trial.
- [Study investigates bone health in Duchenne](https://www.actionduchenne.org/study-investigates-bone-health-in-duchenne/) - A recently published study has found that boys treated with daily Deflazacort (a corticosteroid) have more fractures than boys treated with other steroid regimes.
- [Solid Biosciences financial results and business update](https://www.actionduchenne.org/solid-biosciences-financial-results-and-business-update/) - Company Finalizing Response to FDA Regarding Clinical Hold on SGT-001 Phase I/II Clinical Trial.
- [Solid Biosciences announce FDA have removed clinical hold from their gene therapy trial](https://www.actionduchenne.org/solid-biosciences-announce-fda-have-removed-clinical-hold-from-their-gene-therapy-trial/) - Solid Biosciences Announces FDA Removes Clinical Hold on SGT-001 - Activities to Resume Enrollment in IGNITE DMD Phase I/II Clinical Trial are Underway
- [Solid announces upcoming pre-clinical data presentations](https://www.actionduchenne.org/solid-announces-upcoming-pre-clinical-data-presentations/) - Solid will present new pre-clinical data from SGT-001 at The American Society of Gene and Cell Therapy.
- [Solid address Duchenne community with update on IGNITE DMD Clinical Trial](https://www.actionduchenne.org/solid-address-duchenne-community-with-update-on-ignite-dmd-clinical-trial/) - Solid Biosciences have written to the Duchenne community to provide an update on their IGNITE DMD clinical trial.
- [Action Duchenne skydive 2018 was amazing](https://www.actionduchenne.org/action-duchenne-skydive-2018-was-amazing/) - A huge THANK YOU to the 12 amazing fundraisers who jumped out of planes across the country for Duchenne muscular dystrophy this weekend!
- [ScOT-DMD research study update](https://www.actionduchenne.org/scot-dmd-research-study-update/) - This is the first longitudinal study of bone health in boys with DMD (aged 5-16 years) over a 2 year period using a series of bone imaging and bone markers open to recruitment for boys in Scotland.
- [Sarepta receives negative opinion following CHMP review of eteplirsen](https://www.actionduchenne.org/sarepta-receives-negative-opinion-following-chmp-review-of-eteplirsen/) - Sarepta has received a negative opinion of eteplirsen following a second review by the European Medicine's Agency Committee for Medicinal Products for Human Use (CHMP).
- [PTC Therapeutics marks Rare Disease Day 2018 with Duchenne and Me app](https://www.actionduchenne.org/ptc-therapeutics-marks-rare-disease-day-2018-with-duchenne-and-me-app/) - PTC Therapeutics marks Rare Disease Day 2018 by celebrating 150 year anniversary since Duchenne muscular dystrophy was first described
- [PTC receives formal dispute resolution request decision from the FDA](https://www.actionduchenne.org/ptc-receives-formal-dispute-resolution-request-decision-from-the-fda/) - PTC have today announced that the Office of New Drugs of the U.S. Food and Drug Administration has reiterated the FDA's prior position and denied PTC's appeal of the Complete Response Letter in relation to the New Drug Application (NDA) for ataluren.
- [Press release: First ever treatment for rare muscle wasting condition, Duchenne Muscular Dystrophy, given conditional approval by the European Commission](https://www.actionduchenne.org/press-release-first-ever-treatment-for-rare-muscle-wasting-condition-duchenne-muscular-dystrophy-given-conditional-approval-by-the-european-commission/) - Action Duchenne, a UK-wide and parent-led organisation funding leading Duchenne Muscular Dystrophy research, welcomed the news and looks forward to the additional data provided by the Phase III trial, supporting the drug’s future potential.
- [Portrait of Duchenne - repurposing existing drugs](https://www.actionduchenne.org/portrait-of-duchenne-repurposing-existing-drugs/) - Steve Winder from the University of Sheffield talks to La Fondation La Force at the Action Duchenne International Conference 2016
- [Portrait of Duchenne - edasalonexent](https://www.actionduchenne.org/portrait-of-duchenne-edasalonexent/) - Joanne Donovan of Catabasis talks to Fondation La Force about their potential treatment to modify Duchenne.
- [Portrait of Duchenne - Ravi's good life](https://www.actionduchenne.org/portrait-of-duchenne-ravis-good-life/) - In the seventh interview in the “Portrait of Duchenne” series, our Canadian partners, La Force talked with Ravi Mehta at the Action Duchenne International Conference 2016. Ravi has a business degree and Corporate Development Intern at Muscular Dystrophy UK. As a 27-year-old with Duchenne, he has a good life. This interview is his word of wisdom for all of us.
- [Please opt in](https://www.actionduchenne.org/please-opt-in/) - Data protection rules have changed! In order to continue our exceptional work we need your consent NOW.
- [Pfizer doses first patient using investigational mini-dystrophin gene therapy](https://www.actionduchenne.org/pfizer-doses-first-patient-using-investigational-mini-dystrophin-gene-therapy/) - PF-06939926 is an investigational, recombinant AAV9 capsid carrying a truncated or shortened version of the human dystrophin gene (mini-dystrophin) under the control of a human muscle specific promotor. The AAV9 capsid was chosen as the delivery mechanism because of its potential to target muscle tissue.
- [Parallel 2017 was amazing!](https://www.actionduchenne.org/parallel-2017-was-amazing/) - 60 incredible people took part for Action Duchenne, representing the entire community, along with the scores of supporters who were cheering on the Action Duchenne Parallel Heroes.
- [Northern Ireland - ‘My Healthcare Passport’](https://www.actionduchenne.org/northern-ireland-my-healthcare-passport/) - A new study has started at Queen’s University Belfast. They are looking for young people aged 16-24 with a life-limiting condition and who live in Northern Ireland. They would like young people to use the ‘passport’ for up to 9 months and to be interviewed at intervals about their experiences. For more information about the
- [Nominations open for Muscle Dream Rugby Experience](https://www.actionduchenne.org/nominations-open-for-muscle-dream-rugby-experience/) - Join the Muscle Help Foundation at Twickenham Stadium for the England v Ireland 2-day Muscle Dream Experience.
- [NICE update on Eteplirsen](https://www.actionduchenne.org/nice-update-on-eteplirsen/) - NICE update on Eteplirsen Following last week’s announcement that Sarepta’s exon skipping drug, Eteplirsen, had received a negative trend vote from the European Medicine Agency’s (EMA) Committee for Medicinal Products for Human Use (CHMP).
- [NICE guideline publication – Adult social care: improving people’s experience](https://www.actionduchenne.org/nice-guideline-publication-adult-social-care-improving-peoples-experience/) - NICE guideline on people's experience in adult social care services: improving the experience of care and support for people using adult social care services.
- [New technology could highlight potential treatments for Duchenne muscular dystrophy](https://www.actionduchenne.org/new-technology-could-highlight-potential-treatments-for-duchenne-muscular-dystrophy/) - Researchers at Queen Mary University London are investigating a cell based method to potentially increase the understanding of treating Duchenne.
- [Skeletal and cardiac muscle improvements in MDX mouse](https://www.actionduchenne.org/skeletal-and-cardiac-muscle-improvements-in-mdx-mouse/) - The researchers showed for the first time that the skeletal and cardiac improvements seen in Capricor’s HOPE-Duchenne study could be directly attributed to treatment with CDCs.
- [Neil test news story](https://www.actionduchenne.org/neil-test-news-story/) - This is a test
- [Mark Silverman is poised to deliver his powerful Translarna testimonial to the FDA](https://www.actionduchenne.org/mark-silverman-is-poised-to-deliver-his-powerful-translarna-testimonial-to-the-fda/) - Good luck to AD Trustee Mark Silverman and his son Thomas as they give powerful evidence on Translarna to the FDA today
- [Jonny Gould becomes an Ambassador for Action Duchenne](https://www.actionduchenne.org/jonny-gould-becomes-an-ambassador-for-action-duchenne/) - Jonny is a presenter and pundit who has appeared regularly on Sky News, ITV Sport, Talk Sport and many other media outlets over more than 30 years and has a cousin living with Duchenne Muscular Dystrophy.
- [Investigational idebenone becomes available through EAP in US](https://www.actionduchenne.org/investigational-idebenone-becomes-available-through-eap-in-us/) - Through the BreatheDMD program, people with Duchenne can obtain access to investigational idebenone, at no cost, through a growing network of research centres across the U.S.
- [Internships](https://www.actionduchenne.org/internships/) - We have been offered a number of paid internships for young people living with Duchenne. The positions are available this summer across a range of departments within a well-known organisation.
- [HELLO FROM YOUR NEW ACTION DUCHENNE TEAM!](https://www.actionduchenne.org/hello-from-your-new-action-duchenne-team/) - We are dedicated in delivering our vision to you: to have a world where lives are no longer limited by Duchenne or Becker Muscular Dystrophy. Developing effective treatments for all, building a supportive community, and striving for a more inclusive society will always be at the heart of what we do. Join us in raising the profile of Duchenne, funding pioneering research and clinical trials and educating society on inclusion and disability rights.
- [Comedians sing the Christmas hits!](https://www.actionduchenne.org/comedians-sing-the-christmas-hits/) - It's gonna be one unholy night of fun! We are delighted to announce that on 4th December 2018, our patron Harry Hill will be hosting a comedy night for us, along with a variety of his comic friends. The full line up includes some of our favourite comedians: John Bishop, Jo Brand, Rob Brydon, Alan Carr,
- [Golf Club raise £3,050 in villa raffle](https://www.actionduchenne.org/golf-club-raise-3050-in-villa-raffle/) - Last weekend, our wonderful supporters Stoke By Nayland Golf Club held their much anticipated raffle draw. The prize was a week in a luxury villa in Cyprus, with space for 8 people to enjoy the pool, sun and gorgeous relaxing surroundings.
- [Give your valuable experiences of caring and supporting a young person with Duchenne](https://www.actionduchenne.org/give-your-valuable-experiences-of-caring-and-supporting-a-young-person-with-duchenne/) - The Ulster University have approached Action Duchenne and our wonderful community to take part in an important research study which could benefit the shaping of future services for families.
- [First person reaches 15 month mark through Phrixus' Carmseal-MD](https://www.actionduchenne.org/first-person-reaches-15-month-mark-through-phrixus-carmseal-md/) - First patient to be treated with Carmeseal-MD (P-188 NF) outside of the United States through Phrixus’s Expanded Access Program with Ethicor Pharma Ltd
- [FHA Wales staff present Three Peaks cheque to Action Duchenne](https://www.actionduchenne.org/fha-wales-staff-present-three-peaks-cheque-to-action-duchenne/) - Family Housing Association Wales (FHA) staff members have presented a cheque to Action Duchenne after completing the Welsh Three Peaks Challenge.
- [FDA Grants Orphan Drug Designation to Sarconeos](https://www.actionduchenne.org/fda-grants-orphan-drug-designation-to-sarconeos/) - BIOPHYTIS have announced that the US Food and Drug administration (FDA) has granted orphan drug designation to its drug candidate, Sarconeos.
- [Family urge PTC to fight for Translarna approval](https://www.actionduchenne.org/family-urge-ptc-to-fight-for-translarna-approval/) - Cormac Fegan, age 8, and his family were invited to give a Q&A session to mark the start of the second day of the event to over 150 attendees from all areas of the company covering all geographic areas.
- [CEO attends EURORDIS Summer School](https://www.actionduchenne.org/ceo-attends-eurordis-summer-school/) - Last week our incoming CEO, Shelley Simmonds, completed a 5 day intensive training programme in Barcelona, having been selected to take part in the 'Expert Patient and Researcher EURORDIS Summer School'.
- [Ethics and Social Science – a community in partnership](https://www.actionduchenne.org/ethics-and-social-science-a-community-in-partnership/) - Last month the Ethics and Social Science Genomics England Clinical Interpretation Partnership (GeCIP) held its first national community meeting in London.
- [ENMC Workshop in Amsterdam](https://www.actionduchenne.org/enmc-workshop-in-amsterdam/) - Our Director of Research, Neil attended the 238th ENMC workshop.
- [EAMS, Raxone and the MHRA](https://www.actionduchenne.org/eams-raxone-and-the-mhra/) - Last week our Director of Campaigns & Strategy, Peter Duffy, attended a meeting at The Medicines and Healthcare products Regulatory Agency (MHRA), as part of the Patient Group Consultative Forum.
- [Duchenne Parent Project International Conference](https://www.actionduchenne.org/duchenne-parent-project-international-conference/) - This weekend our Director of Research, Neil Bennett, and our CEO, Shelley Simmonds, are in Rome attending the Duchenne Parent Project International Conference.
- [DMD Pathfinders launch new nutrition guide for adults](https://www.actionduchenne.org/dmd-pathfinders-launch-new-nutrition-guide-for-adults/) - They have pulled together existing best practice and experiences of adults with Duchenne into a useful resource.
- [Department for Transport Meeting](https://www.actionduchenne.org/department-for-transport-meeting/) - Yesterday our CEO, Shelley, was invited to the House of Commons to meet with the Secretary-under-State for the Department of Transport, Nusrat Ghani MP, to discuss the importance of the government's Inclusive Transport Strategy of July 2018 and the new Access For All programme.
- [Daiichi Sankyo announces Phase 1/2 clinical trial results](https://www.actionduchenne.org/daiichi-sankyo-announces-phase-1-2-clinical-trial-results/) - No safety concerns, such as discontinuation or clinically significant adverse events, were observed in the study. The expression of dystrophin protein, the primary endpoint of efficacy, was partially identified, but was not be clearly detected as a whole. However, the secondary endpoint of efficacy, the production of messenger RNA with exon 45 skipping of the dystrophin gene, was found in all patients.
- [WE NEED YOUR VOTE - Chelsea vs Fulham matchday collection](https://www.actionduchenne.org/we-need-your-vote-chelsea-vs-fulham-matchday-collection/) - Help us to win the chance to hold a bucket collection at Stamford Bridge at the Chelsea vs Fulham game Sunday 2 December. WE NEED YOUR VOTES - deadline 19th November to get as many votes as possible.
- [Changing Places, Changing Lives](https://www.actionduchenne.org/changing-places-changing-lives/) - Going to the toilet is a basic human right and Changing Places facilities offer a clean, spacious and private environment to those who need it - having a hoist and changing bench makes a world of difference.
- [Catabasis financial reports and business progress](https://www.actionduchenne.org/catabasis-financial-reports-and-business-progress/) - Edasalonexent significantly slowed Duchenne muscular dystrophy (DMD) disease progression as measured by MRI through one year of treatment. Height and weight through 60 weeks of edasalonexent treatment was on track with standard growth curves for unaffected boys.
- [Career Legal Bake Off is a great success!](https://www.actionduchenne.org/career-legal-bake-off-is-a-great-success/) - Career Legal has been recruiting for the legal community across London and throughout the UK for over 25 years. On Friday 8 June they held a Bake Off to support Action Duchenne.
- [Capricor announces repeat dosing of CAP-1002 increases exercise performance in Duchenne mouse](https://www.actionduchenne.org/capricor-announces-repeat-dosing-of-cap-1002-increases-exercise-performance-in-duchenne-mouse/) - Capricor Announces New Pre-Clinical Study Finds Repeat Doses of CAP-1002 Lead to Enhanced Exercise Capacity in Duchenne Muscular Dystrophy Disease Model
- [Capricor Announces Initiation of HOPE-2 Clinical Trial Of CAP-1002 for Duchenne Muscular Dystrophy](https://www.actionduchenne.org/capricor-announces-initiation-of-hope-2-clinical-trial-of-cap-1002-for-duchenne-muscular-dystrophy/) - Up to 84 boys and young men with Duchenne muscular dystrophy will be enrolled in HOPE-2, a Phase 2, randomized, double-blind, placebo-controlled trial that will test CAP-1002 in participants with advanced stages of Duchenne muscular dystrophy.
- [Call to action - Powerchair Football in Scotland](https://www.actionduchenne.org/call-to-action-powerchair-football-in-scotland/) - Please join the Cross Party Debate discussing Powerchair football in Scotland on Wednesday the 6th of February 2019 at 5:15pm in Scottish Parliament.
- [Berardelli family fundraise at Lochaber Agricultural Show](https://www.actionduchenne.org/berardelli-family-fundraise-at-lochaber-agricultural-show/) - Elspeth and Paolo have been dedicated fundraisers for many years now following their son Georgio's diagnosis with Duchenne.
- [Antisense receive approval for Phase II trial in Australia](https://www.actionduchenne.org/antisense-receive-approval-for-phase-ii-trial-in-australia/) - ATL1102 is an antisense inhibitor of CD49d, a subunit of VLA-4 (Very Late Antigen-4).
- [Annemeike standards of care video news article](https://www.actionduchenne.org/annemeike-standards-of-care-video-news-article/)
- [Adelphi Values would like to interview people from the Duchenne community](https://www.actionduchenne.org/adelphi-values-would-like-to-interview-people-from-the-duchenne-community/) - Action Duchenne are helping Adelphi Values recruiting people from the Duchenne community, to interview for their research study
- [Action Duchenne present parent's perspective to healthcare professionals](https://www.actionduchenne.org/action-duchenne-present-parents-perspective-to-healthcare-professionals/) - We as a charity relish every opportunity to advocate life with Duchenne to professionals in the Healthcare field.
- [Action Duchenne Funding Gene Therapy to Advance Treatments for Duchenne](https://www.actionduchenne.org/action-duchenne-funding-gene-therapy-to-advance-treatments-for-duchenne/) - We are thrilled to announce our funding of “UNITE-DMD”, the first gene therapy trials for Duchenne muscular dystrophy here in the UK.
- [Action Duchenne CEO represents the community at ENMC International Workshop](https://www.actionduchenne.org/action-duchenne-ceo-represents-the-community-at-enmc-international-workshop/) - Finalising a plan to guarantee quality in translational research for neuromuscular diseases Heemskerk, Netherlands
- [Action Duchenne are Delighted to Announce Our New Campaigns Officer: Kathy](https://www.actionduchenne.org/action-duchenne-are-delighted-to-announce-our-new-campaigns-officer-kathy/) - Mum to Isaac, who is living with Duchenne muscular dystrophy, I’ve been an active campaigner with Action Duchenne since 2011. Having found the support of the Duchenne community at the Action Duchenne conference in 2008, several months after Isaac was diagnosed, the annual conference helped my husband Stuart and me through the next couple of years as we reshaped our lives with the reality of Duchenne.
- [Action Duchenne announces changes and new key appointments](https://www.actionduchenne.org/action-duchenne-announces-changes-and-new-key-appointments/) - The Board of Trustees are today excited to inform the Duchenne and Becker community of three new key staff appointments at our organisation - a new CEO, Director of Research and Director of Campaigns & Strategy - to compliment and strengthen our current team and operations at Action Duchenne.
- [Progression of time - Benjamin James](https://www.actionduchenne.org/progression-of-time-benjamin-james/) - Taken from Benjamin James' blog HorizonsofHope - living with a neuromuscular condition, feelings, frustrations and hope.
- [Things like this don’t happen to you… do they? - a Duchenne Dad's perspective](https://www.actionduchenne.org/things-like-this-dont-happen-to-you-do-they-a-duchenne-dads-perspective/) - It’s a bit of a ‘release’ that will help to get things off my chest when I need to and maybe even help others in similar situations. Us men are well known for not being ‘talkers’ but rather than just let things build up I find writing/typing my thoughts does help.
- [Dave's story](https://www.actionduchenne.org/daves-story/) - In the space of around 7-8 weeks I have learned so much about Duchenne Muscular Dystrophy and Action Duchenne. The stories have all been deeply moving. Putting all of this together has inspired me so much, so much so that I want to help Action Duchenne and those affected by Duchenne.
- [Hear from our Skydivers!](https://www.actionduchenne.org/hear-from-our-skydivers/) - 12 amazing fundraisers jumped out of planes across the country on Saturday 7 July 2018. They raised a fantastic £9,000 to help us achieve our vision of a world where lives are no longer limited by Duchenne muscular dystrophy.
- [Lots to take away from the PPMD Conference](https://www.actionduchenne.org/lots-to-take-away-from-the-ppmd-conference/) - Last week, Neil Bennett, our new Director of Research attended the Parent Project Muscular Dystrophy (PPMD) Conference in Arizona, USA. Neil provided updates during his time at the Conference and we are pleased to share these with you.
- [Spotlight on Fundraisers July 2018](https://www.actionduchenne.org/spotlight-on-fundraisers-july-2018/) - Here are some of our wonderful fundraisers for this month!
- [Interview with Abbie and Mark Silverman](https://www.actionduchenne.org/interview-with-abbie-and-mark-silverman/) - Watch the dedicated Abbie and Mark Silverman speak with Peter Duffy at their 10th Conference.
- [Interview with Jon Powton](https://www.actionduchenne.org/interview-with-jon-powton/) - Hear from the fantastic Jon Powton when he spoke with Peter Duffy at the #ADConf17 about his life, fostering and living with Becker muscular dystrophy.
## Pages
- [Home](https://www.actionduchenne.org/) - Action Duchenne - Home #
- [Action Duchenne Community Summit 2026 (Previously International Conference)](https://www.actionduchenne.org/action-duchenne-community-summit-2026-previously-international-conference/) - Welcome to the Action Duchenne Community Summit 2026! Quality of Life: Powered by Knowledge, Community and Care sits at the heart of everything we are building.
- [Donate by cheque and post](https://www.actionduchenne.org/get-involved/donate-by-cheque-and-post/) - Donating online is the quickest way for us to receive your money. Donate by Cheque If you would prefer to donate by cheque, please follow the steps below: Make your cheque payable to Action Duchenne Include your full name and address so we can acknowledge your gift Let us know the reason for your donation
- [Help us take Action Duchenne to new heights](https://www.actionduchenne.org/help-us-take-action-duchenne-to-new-heights/) - Do something meaningful with friends, get fit and fundraise. We need you to help us shine a light on the strength, resilience and determination at the heart of our community by taking on the Three Peaks Challenge! We have an amazing opportunity to take part in something truly special. The highest Three Peaks in the UK await you, ready for you to fly the Action Duchenne flag from their summits. Imagine reaching
- [Upcoming Events and Challenges](https://www.actionduchenne.org/events-and-challenges/) - Are you looking to challenge yourself while raising money for Action Duchenne? We have places in some of the biaking ggest and best events the UK has to offer.
- [Privacy Policy](https://www.actionduchenne.org/privacy-policy/) - Action Duchenne Ltd and Action Duchenne Trading privacy notice This privacy notice tells you what to expect us to do with your personal information. Contact details What information we collect, use, and why Lawful bases and data protection rights Where we get personal information from How long we keep information Who we share information with Sharing information outside the
- [Summer 2026 In-Person Family Days](https://www.actionduchenne.org/in-person-support-events/) - Summer In-Person Family Days Throughout August 2026, we're running family fun days open to all Duchenne families along with siblings too so that you can meet up with others in your area, as well as our support team and have fun together. All of our family days are free to attend and we'll provide refreshments
- [Webinar Series 2026](https://www.actionduchenne.org/webinar-series-2026/) - The Webinar Series 2026 will explore the full reality of Duchenne, from diagnosis and education to mental health, caring, identity, grief and future planning.
- [Children and Young People](https://www.actionduchenne.org/children-and-young-people/) - Children and Young People Our online groups for children and young people living with Duchenne give everyone the opportunity to meet others with the condition, create friendships and to take part in inclusive activities in a safe, supported space. Mighty Minds We’re so excited to introduce Mighty Minds — a brand-new virtual group created especially for boys living with
- [Work For Us](https://www.actionduchenne.org/work-for-us/) - Join our team Find out about the current opportunities to join us in working towards our vision of a world where lives are no longer limited by Duchenne muscular dystrophy.
- [Run the TCS London Marathon Double 2027 for Action Duchenne](https://www.actionduchenne.org/run-the-tcs-london-marathon-2027-for-action-duchenne/) - Action Duchenne exists to support, empower and equip every DMD community in their journey from diagnosis and beyond. We support our London Marathon runners much like we do the Duchenne community. We are with you on your whole journey, from registering to the big day and beyond. Running the London Marathon for Action Duchenne is
- [Support Us](https://www.actionduchenne.org/support-us-fundraising/) - Support us to to continue our life changing work, supporting families from diagnosis and beyond. Make a difference to those living with Duchenne
- [What we do](https://www.actionduchenne.org/about-us/what-we-do/) - Find out what we do at Action Duchenne- the support we offer, the research we support and the community we create. Find out how you can get involved in our life-changing workl
- [Friends of Action Duchenne](https://www.actionduchenne.org/friends-of-action-duchenne/) - Become a Friend of Action Duchenne so we can be there for EVERY family EVERY time. What does it mean to be an Action Duchenne Friend? You will receive regular updates on our progress, including the impact your donation is allowing us to make on families and communities all around the UK. Invitation to exclusive online events to hear more about our work
- [Staff](https://www.actionduchenne.org/about-us/our-team/staff/) - Your dedicated Action Duchenne team is responsible for everything the charity does. Our values – Supportive, Empathetic, Respectful, Community Focused, and Inclusive – are demonstrated in every interaction, decision, and process.
- [Save the Date for the Action Duchenne Community Summit 2026 (Previously known as Annual International Conference)](https://www.actionduchenne.org/save-the-date-for-the-action-duchenne-community-summit-2026-previously-known-as-annual-international-conference/) - Save the Date for the Action Duchenne Community Summit 2026 (Previously known as Annual International Conference) We are really excited to announce the date for the Action Duchenne Community Summit previously known as the International Conference) which will be held on Friday 13th and Saturday 14th November 2026! This year we have renamed our biggest event
- [Welcome to our Runner Hub](https://www.actionduchenne.org/welcome-to-our-runner-hub/) - Running for our small charity is incredibly rewarding. Not only can it boost your physical and mental wellbeing, but it also gives you the empowering feeling that you’re helping us support, equip, and uplift every DMD community — from diagnosis and throughout their journey. Please note: Our injury‑prevention and nutrition guidance has been written by
- [Online Group Counselling Programme](https://www.actionduchenne.org/group-counselling-programme/) - Online Group Counselling Programme We know that being a parent or carer of someone living with Duchenne can be really tough, and we know that it is difficult to find the right support. We are offering an 8 session online group counselling programme, facilitated by a professional counsellor. The sessions will cover many aspects of
- [Donate now](https://www.actionduchenne.org/donate-now/) - Donate now Donate and support our life changing work.
- [Donate now](https://www.actionduchenne.org/donate-now-2/) - It's very difficult to put into words the sense of support that has been provided and that there are other people out there who understand and can help. Newly diagnosed Duchenne Dad When you make a donation to Action Duchenne, your gift will give the children, young people, adults and their families living in the
- [Guides and information](https://www.actionduchenne.org/what-is-duchenne/supporting-you/guides-and-information/) - Action Duchenne is a phenomenal organization, and they really lead the way in supporting DMD families in the UK. I can't say enough. James Poysky (Parent) Please find links to a range of resources to benefit the Duchenne community. Action Duchenne guides Helpful links Books A guide to Duchenne muscular dystrophy - information and advice for
- [About Us](https://www.actionduchenne.org/about-us-2/)
- [Action Duchenne Policies](https://www.actionduchenne.org/action-duchenne-policies/) - Action Duchenne Policies Safeguarding Policy Please find our Safeguarding Policy below: Action Duchenne Safeguarding PolicyDownload Pharma Funding Policy Please find our Pharmaceutical and Biotechnology companies Funding Policy below: Pharmaceutical and Biotechnology companies Funding PolicyDownload
- [Our Purpose](https://www.actionduchenne.org/about-us/our-vision/) - Action Duchenne has a very clear vision: a world where lives are no longer limited by Duchenne muscular dystrophy. We support families throughout their journey.
- [Register your interest for London Landmarks Half Marathon 2027](https://www.actionduchenne.org/register-your-interest-for-london-landmarks-half-marathon-2027/)
- [Give in memory and help us support every family, every time.](https://www.actionduchenne.org/give-in-memory-and-help-us-support-every-family-every-time/) - A Meaningful Tribute Making a donation, fundraising, or creating a tribute fund is a powerful way to remember your hero. Their name and kindness will live on through the support we provide to families across the Duchenne community. Ways to Give in Memory Funeral or Memorial Collection Invite loved ones to donate in lieu of flowers.
- [The DMD Registry](https://www.actionduchenne.org/what-is-duchenne/supporting-you/the-dmd-registry/) - Our Registry is closing, with Duchenne UK having developed a more advanced registry in recent years, and we have a few questions on how we proceed with your information. You can choose to have your information transferred across to the Duchenne UK Registry. We are awaiting information on what this looks like, but with your permission we
- [We're Hiring: Operations & Governance Officer](https://www.actionduchenne.org/were-hiring-operations-governance-officer/) - We're Hiring: Operations & Governance Officer Role: Operations & Governance OfficerResponsible to: Chief Executive OfficerPay Band: Band 3, point 3 (£32,379 FTE)Hours: 37.5 hours per week (Full-time)Key Contacts: Senior Leadership Team, Trustee Board, Finance, auditors, Charity Commission, OSCR, Fundraising RegulatorResponsible for: No line management Introduction to Action Duchenne:Action Duchenne supports, empower and equip every DMD
- [Action Duchenne Fundraiser Guides](https://www.actionduchenne.org/action-duchenne-champions-fundraiser-guide/) - Action Duchenne Fundraiser Guides
- [Help and support](https://www.actionduchenne.org/what-is-duchenne/supporting-you/help-and-support-duchenne/) - Help and support
- [Register for Support](https://www.actionduchenne.org/support/) - Action Duchenne offer support for you and your family for every stage of your journey with Duchenne muscular dystrophy. Register with us today.
- [Nutrition for runners](https://www.actionduchenne.org/nutrition-for-runners/) - What you eat while you train is really important for overall health and performance. Nutrition can be a difficult subject to approach especially if you’re new to sports nutrition. There's a lot of talk about macros and supplements and diet plans. No doubt it's overwhelming but it doesnt need to be. The concept you need to bear in mind during this is that whatever plan
- [Join Action Duchenne for Rare Disease Day 2026](https://www.actionduchenne.org/join-action-duchenne-for-rare-disease-day-2026/) - Rare Disease Day is a global movement which aims to raise awareness for the 300 million people worldwide who live with a rare disease.
- [Connect with Others](https://www.actionduchenne.org/connect-with-others/) - Our Support team can carefully match you with other Mums, Dads and Grandparents of children, young people and adults living with Duchenne. Read about others experiences of peer to peer support Peer to peer support – Chloe and Lyndsey Peer-to-peer support – feeling positive for the future Peer-to-peer support – I don’t feel so alone
- [Our team](https://www.actionduchenne.org/about-us/our-team/) - Action Duchenne exists to support, empower and equip every DMD community in their journey from diagnosis and beyond. Duchenne Muscular Dystrophy is a muscle wasting condition for which there is no cure, but we journey alongside communities to empower them and provide information for them to make informed decisions. Action Duchenne has a team of
- [Organise your own event](https://www.actionduchenne.org/get-involved/ways-you-can-help-fundraise/organise-your-own-event/) - Whatever you choose to do for Action Duchenne, we will give you our full support from day one and provide you with information and support you need to make your event a success. When you join us you become part of our team in carving the future for everyone living with Duchenne. We call our supporters
- [Fundraising at school](https://www.actionduchenne.org/get-involved/fundraising-at-school/) - Thank you for choosing to support Action Duchenne in your fundraising at school. It really means a lot to us and to the entire Duchenne community. Your school's fundraising will help to increase awareness of Duchenne muscular dystrophy and raise vital money to help us continue our mission to create a world where lives are
- [Board of trustees](https://www.actionduchenne.org/about-us/our-team/board-of-trustees/) - Action Duchenne is governed by a dedicated Board of Trustees, all of whom are volunteers passionately committed to our vision of a world no longer limited by Duchenne muscular dystrophy
- [Highlights from the Action Duchenne Conference 2025](https://www.actionduchenne.org/highlights-from-the-action-duchenne-conference-2025/) - Highlights from the Action Duchenne Conference 2025 The Action Duchenne Annual International Conference 2025 took place on Friday 14th and Saturday 15th of November and brought individuals living with Duchenne and their families, patient experts, clinicians, healthcare professionals, pharmaceutical company representatives and equipment providers. This year, we had 6 content streams running over the two
- [Take on a challenge for Duchenne](https://www.actionduchenne.org/take-on-a-challenge-for-duchenne/) - Take on a challenge for Action Duchenne to know that you are making a difference in the lives of everyone living with Duchenne
- [Become an Action Duchenne Trustee](https://www.actionduchenne.org/become-an-action-duchenne-trustee/) - Action Duchenne is looking for new members to join our team! We have been through a period of change and development and are now looking to expand our Trustee Board. Welcome from the Chair "Welcome to Action Duchenne. I became Chair of the Charity in January 2025. By background, I am a retired GP and
- [Developments in Standards of Care](https://www.actionduchenne.org/developments-in-standards-of-care/) - Stay up to date and informed about Duchenne care with expert-led sessions covering latest standards and practical guidance from bone health and nutrition to cardiac and respiratory management, with a session diving into the therapeutic developments in Duchenne. Register Bone health in DMD: Steroids, Vamorolone & updated 2025 guidance Dr Jarod Wong, Paediatric Endocrinologist at
- [Supporting Schools](https://www.actionduchenne.org/supporting-schools-teachersprofessionals/) - It is important for children and young people living with Duchenne muscular dystrophy to have the right support at school. There are many we can help.
- [Science and Research](https://www.actionduchenne.org/science-and-research/) - Science and Research Understanding the latest research and how the landscape for the treatment of Duchenne is evolving is an essential part of navigating your journey, and this session will ensure you have all the information you need. Our Science and Research stream will run on Friday 14th November and we've got the leading experts
- [Health and Wellbeing](https://www.actionduchenne.org/health-and-wellbeing/) - The Health and Wellbeing stream at the Action Duchenne Annual International Conference 2025: Designed to empower you to help your family thrive
- [World Duchenne Awareness Day 2025](https://www.actionduchenne.org/world-duchenne-awareness-day-2025/) - World Duchenne Awareness Day 2025 September 7th is World Duchenne Awareness Day or WDAD. Each year, an annual campaign aims to increase awareness of Duchenne and Becker muscular dystrophy. World Duchenne Awareness Day raises awareness and inspires action to improve the lives of people living with Duchenne and Becker muscular dystrophy. There is still relatively little
- [Challenge 79](https://www.actionduchenne.org/challenge79forworld-duchenne-awareness-day-2025/) - Challenge 79 – Created with You in Mind The dystrophin gene is one of the largest genes in the human body, and it's made up of 79 exons (pieces of a gene). The body puts these 79 exons together to create the full dystrophin protein, which is essential for keeping muscles strong and stable. If
- [EHCP: Working with Local Authorities and Recognising Educational and Emotional Needs](https://www.actionduchenne.org/ehcp-working-with-local-authorities-and-recognising-educational-and-emotional-needs/) - EHCP: Working with Local Authorities and Recognising Educational and Emotional Needs Navigating the education system for a child with Duchenne and ensuring your child's need are met can be challenging. In the first of our webinars focusing on education and healthcare, Janet Hoskin and Benjamin James will talk through their recent publication (also co-written by
- [Residential Weekends & In-Person Events](https://www.actionduchenne.org/residential-weekends-in-person-events/) - We have combined our online sessions with residential weekends, enabling young people to participate in a variety of amazing activities alongside others living with Duchenne. They’ve experienced independence and friendship alongside developing vital skills and building self esteem. We have visited the amazing Calvert Trust in both Exmoor and the Lake District. Our 2025 residential
- [Transition to Adulthood - 'Yes I Can'](https://www.actionduchenne.org/about-us/what-we-do/transition-to-adulthood-yes-i-can/) - Action Duchenne's Yes I Can Programme for young people living with Duhenne muscular dystrophy. Transition to adulthood, independence, equity, inclusion, friendship and support.
- [Become a charity volunteer](https://www.actionduchenne.org/get-involved/volunteer-with-us/) - Volunteers play a significant part in helping our charity deliver our life changing work. You can join the growing team of amazing short and long term volunteers to work on specific tasks to suit your availability, interests and expertise. "I cannot recommend more highly supporting Action Duchenne. I am a marketing volunteer for them and
- [Support Calendar - What's On](https://www.actionduchenne.org/support-calendar-whats-on/)
- [Yes I Can Online](https://www.actionduchenne.org/yes-i-can-online/) - Join our network of young people living with Duchenne. We have come to the end of our most recent programme of Yes I Can Online and we’ve had some brilliant and varied sessions. We started back in December 2024 with The Money Charity delivering two different topics around managing our money and financial wellbeing, before
- [Dr Jarod Wong and Dr Claire Wood - Puberty, Bone Health and Weight Management in Duchenne](https://www.actionduchenne.org/dr-jarod-wong-and-dr-claire-wood-puberty-and-bone-health-in-duchenne/) - Dr Jarod Wong and Dr Claire Wood - Puberty, Bone Health and Weight Management in Duchenne Dr Jarod Wong and Dr Claire Wood are both regular speakers at the Action Duchenne Annual International Conference, and are experts in the field of endocrinology.Dr Wood is an Honorary Consultant in Paediatric Endocrinology at the Great North Children’s
- [Webinar Series 2025](https://www.actionduchenne.org/webinarseries2025/) - Our webinars shine a spotlight on the most challenging and important areas of Duchenne muscular dystrophy, bringing the experts to you.
- [Help Make a Life Beyond Duchenne Possible – Every Month](https://www.actionduchenne.org/monthly-giving/) - START GIVING MONTHLY Every child, young person, and adult deserves a future full of possibilities—not one defined by Duchenne muscular dystrophy. By becoming a monthly donor, you’ll provide vital, ongoing support to help individuals and families navigate life with Duchenne. Here’s how your gift makes a difference: 💬 1-to-1 Support Our dedicated Support Officers are
- [Mental Health Awareness Week 2025](https://www.actionduchenne.org/mental-health-awareness-week-2025/) - Join Action Duchenne as we support Mental Health Awareness Week 2025, running from 12th - 18th May. This year, the theme is "community" and all week we'll be opening up conversations about the ways we can find strength within the Duchenne community. Creating spaces, either virtual or in-person, for our community to come together is
- [Dr James Poysky: Neurodiversity in Duchenne](https://www.actionduchenne.org/dr-james-poysky-neurodiversity-in-duchenne/) - Dr James Poysky: Neurodiversity in Duchenne A regular and always popular speaker at our International Conference, Dr. James Poysky is a clinical psychologist and pediatric neuropsychologist. He is an internationally recognized expert in the impact that Duchenne muscular dystrophy can have on learning, behaviour, and emotional adjustment. Here at Action Duchenne, we support hundreds of
- [SAVE THE DATE for the Action Duchenne Annual International Conference 2025](https://www.actionduchenne.org/save-the-date-for-the-action-duchenne-annual-international-conference-2025/) - We are excited to announce the date for the Action Duchenne Annual International Conference 2025!
- [Turning Point Online](https://www.actionduchenne.org/turning-point-online/) - Join our network of young people living with Duchenne. After getting your feedback, we are running monthly online sessions for young people aged 8 - 14. These run on the third Thursday of the month, are free to join and you can drop in and out as much as you like. We’ve focused on different
- [Professor David Schonfeld: Coping with the Diagnosis](https://www.actionduchenne.org/professor-david-schonfeld-coping-with-the-diagnosis/) - Professor David Schonfeld: Coping with the Diagnosis We welcome Professor David Schonfeld, internationally renowned developmental behavioural paediatrician and regular Action Duchenne conference speaker. He will deliver two webinars focusing on 'Coping with Diagnosis', with lots of opportunity for questions. Coping with the Impact of Diagnosis: Tuesday 4th March, 6:00pm A Duchenne Diagnosis has a life-changing
- [Volunteer for us](https://www.actionduchenne.org/volunteer-for-us/) - In a small charity, you can make a BIG impact. We are always looking for volunteers to use their skills, expertise and knowledge to help us in our work towards a world where lives are no longer limited by Duchenne muscular dystrophy. Find out how you can be part of it: Become a charity volunteer
- [Grandparents Together](https://www.actionduchenne.org/grandparents-together/) - Many of the grandparents we speak to feel that their role following a Duchenne diagnosis is one of support for their children and grandchildren. But when you aren’t at the clinic appointments and you don’t know who to ask about this overwhelmingly complex condition, it can be difficult to know where to start. Running once
- [Game Design with MindJam](https://www.actionduchenne.org/game-design-with-mindjam/) - Many of you will be familiar with MindJam either through previous online sessions or in the Hang Out at our 2023 and 2024 conferences. MindJam provide emotional and SEN support for young people through gaming, game design and digital skills. We've asked them to come along and run a series of 3 sessions looking at
- [Mentoring Sessions - Making Beats with Sanjeev Mann](https://www.actionduchenne.org/mentoring-sessions-making-beats-with-sanjeev-mann/) - Mentoring Sessions - Making Beats with Sanjeev MannWe are introducing a new element to our Transition to Adulthood project. Many of you will have met or joined a session with the amazing Sanjeev Mann, aka Superman on da Beat. Sanjeev is a music producer and DJ who also lives with Duchenne. He has loads of
- [Highlights from the Annual Action Duchenne Annual International 2024](https://www.actionduchenne.org/register-now-for-the-2024-action-duchenne-annual-international-conference/) - Join the Duchenne community for the 2024 Action Duchenne Annual International Conference, bringing everyone together to support, empower and share knowledge.
- [Make a Pledge](https://www.actionduchenne.org/make-a-pledge/)
- [Become an Action Duchenne member](https://www.actionduchenne.org/get-involved/become-a-member/) - Become an Action Duchenne member to make a real difference every day to the lives of everyone living with Duchenne muscular dystrophy.
- [Challenge 79 for Schools](https://www.actionduchenne.org/challenge-79-for-schools/) - Challenge 79 We launched our own challenge last year, to get people involved in taking part in World Duchenne Awareness Day. This year, we are aiming even bigger and we want YOUR school to get involved! Ideas for Schools A whole school Challenge 79 Day - each class creates and takes on their own 79
- [Challenge 79 - What can YOU do?](https://www.actionduchenne.org/challenge-79-what-can-you-do-ideas/) - We have some ideas to get you thinking, but we know you will be able to come up with even better ones! All you need to do now is decide on your challenge and register for the event. We'll be in touch to offer you any support or help that you might need. Send us
- [Our Impact](https://www.actionduchenne.org/strategy-and-impact/) - We are proud to celebrate our 'All-Through Support' programme, and to share with you the impact of our work.
- [Time Out - A Space for Mums](https://www.actionduchenne.org/time-out-a-space-for-mums/) - The most common thing we hear from Duchenne mums is the struggle to juggle it all, the pressure to hold it all together and the total lack of any space for themselves. So even if it’s just once a month, this space is just for you. A space to come together with other Duchenne mums
- [Action Duchenne Launches 2024 Design Competition](https://www.actionduchenne.org/action-duchenne-launches-2024-design-competition/) - Action Duchenne launches design competition! We need YOU to design the front cover of the 2024 Conference Brochure and our 2024 Christmas Cards.
- [Raise Your Voice for World Duchenne Awareness Day 2024](https://www.actionduchenne.org/raise-your-voice-for-world-duchenne-awareness-day-2024/) - World Duchenne Awareness Day unites the global Duchenne community annually for advocacy, action and change. Join Action Duchenne to Raise YOUR Voice.
- [Duchenne 101 Online](https://www.actionduchenne.org/duchenne-101-online/) - Our Duchenne 101 virtual event will be held on Saturday the 28th of September from 2 - 5pm, bringing Duchenne knowledge and support to you.
- [World Duchenne Awareness Day 2024](https://www.actionduchenne.org/world-duchenne-awareness-day-2024/) - World Duchenne Awareness Day 2024 With just less than a month to go until World Duchenne Awareness Day, what can you do to Raise Your Voice for Duchenne? World Duchenne Awareness Day unites the global Duchenne community annually for advocacy, action and change. This year is a monumental milestone as it marks the first year
- [Summer Webinar - Dr David Schonfeld](https://www.actionduchenne.org/summer-webinar-dr-david-schonfeld/) - Summer Webinar - How to manage the impact of DMD on Family Members - Parents/Caregivers and Siblings with Dr Davif Schonfeld
- [Meeting up in-person](https://www.actionduchenne.org/meeting-up-in-person/) - Meeting up in-person Turning Point Families Day, 22nd June Read Victoria's blog about our Turning Point Families Day at Thomley. Read about our Turning Point Meet up Parallel Windsor 2024 Action Duchenne are proud to be a Parallel charity partner for their flagship Festival of Inclusivity, held on 7th July 2024 in the grounds of
- [Summer Webinar - MHRA and Drug Approval](https://www.actionduchenne.org/summer-webinar-mhra-and-drug-approval/) - The next in our series of webinars with the Medicines and Healthcare products Regulatory Agency (MHRA) who will explain their role in the drug approval process.
- [Take on Challenge 79 for World Duchenne Awareness Day!](https://www.actionduchenne.org/challenge-79/) - Take on Challenge 79 for World Duchenne Awareness Day! World Duchenne Awareness Day 2024 World Duchenne Awareness Day unites the global Duchenne community annually for advocacy, action and change. This year is a monumental milestone as it marks the first year that the United Nations have officially designated 7th September as World Duchenne Awareness Day.
- [Leave a legacy donation](https://www.actionduchenne.org/leave-a-legacy-donation/) - Action Duchenne was established in 2001 to support children, young people, adults, and their families living with Duchenne muscular dystrophy. It is a community-led charity, proud to work with partner organisations to address the unmet needs of the community through designing programmes and services that maximise resources. THE FUTURE: OUR 10 YEAR AMBITION It’s important
- [Membership 79](https://www.actionduchenne.org/membership-79/) - Membership 79 This World Duchenne Awareness Day, show your support by choosing to join the Duchenne community now and into the future. Children, young people and their families live with Duchenne every single day. While awareness days create much-needed opportunities for advocacy and increased understanding, these families need our support for their whole journey. They
- [Bite-Sized Duchenne Science](https://www.actionduchenne.org/bite-sized-duchenne-science/) - Our Science Live Video Project will aims to empower you, your family, friends and care teams with accurate, reliable knowledge from the comfort of your home.
- [Dads Against Duchenne](https://www.actionduchenne.org/dads-against-duchenne/) - Dad's Against Duchenne is Action Duchenne's support group for Duchenne dads. Informal, relaxed with no agenda. We are stronger together!
- [What is Duchenne muscular dystrophy?](https://www.actionduchenne.org/what-is-duchenne/duchenne-explained/what-is-duchenne/) - At first it seemed like a mountain to climb to understand Samson's condition fully, but we soon became experts in Duchenne. Lynnette Ellison, Parent If you are a newly diagnosed family, please head to our support page. Duchenne muscular dystrophy is a rare genetic condition caused by mutations in the dystrophin gene, which prevent production of
- [Celebrating our Action Duchenne Champions](https://www.actionduchenne.org/get-involved/ways-you-can-help-fundraise/celebrating-our-action-duchenne-champions/) - We held our first ever Action Duchenne Champion Awards, celebrating the valuable contribution to our work through volunteering, fundraising and advocating.
- [The Dystrophin Gene](https://www.actionduchenne.org/the-dystrophin-gene/) - Join us for the next in Action Duchenne's Science Live Series as we explore the dystrophin gene, the largest gene in the human genome.
- [Science on Tour](https://www.actionduchenne.org/science-on-tour/) - Action Duchenn In-Person Science Education Workshops - gain knowledge, get support and hear about the latest research updates. Meet others who truly understand.
- [Turning Point - Support for 8 - 14 year olds](https://www.actionduchenne.org/turning-point/) - Turning Point - Support for 8 - 14 year olds Moving from primary to secondary education can be really difficult for young people living with Duchenne muscular dystrophy. Many start to see their mobility decline and they find they are using their wheelchair more, or losing the ability to walk altogether. As they experience these
- [Links and Resouces](https://www.actionduchenne.org/links-and-resouces/) - Here are some links to other charities and organisations who have been part of Turning Point sessions, or that you might find useful. Action Duchenne School's Pack The Money Charity Aerobility Young Minds MindJam The Calvert Trust Contact (for families with disabled children) Blog - Turning Point: A Mum's Perspective
- [Obstacle courses, mud runs and fire & ice](https://www.actionduchenne.org/obstacle-courses-mud-runs-and-fire-ice/) - Tough Mudder The Wolf Run Mud Girl Run Spartan Races Gelt Gladiator MacTuff Challenges Colour Runs Inflatable 5ks Superhuman Games Fire walk Ice/Cold water dip
- [Ways you can help](https://www.actionduchenne.org/get-involved/ways-you-can-help-fundraise/) - Please reach out to our Community Fundraising and Support Officers for a chat! Victoria Contact for donations, running and challenge events, Charity of the Year or nominated charity. victoria.young@actionduchenne.org Dawn Contact for membership (monthly giving), setting up your own event and schools fundraising. dawn@actionduchenne.org
- [Patrons and Supporters](https://www.actionduchenne.org/about-us/our-team/advocates-support/)
- [How is Duchenne Muscular Dystrophy Inherited?](https://www.actionduchenne.org/how-is-duchenne-muscular-dystrophy-inherited/) - In the sixth section of Science Live we are exploring how Duchenne muscular dystrophy is inherited and passed on through the generations. To do so we will explore topics on mutations and genetic inheritance, as well as looking at who carriers are and how the condition affects them. Genetically inherited conditions are complicated and often
- [Annual International Conference 2023 Video Recordings](https://www.actionduchenne.org/annual-international-conference-2023-video-recordings/) - Annual International Conference 2023 Video Recordings Watch the videos of some of our key sessions from the 3 different content streams from our 2023 conference.
- [Annual International Conference 2023](https://www.actionduchenne.org/conference-2023-photos/) - Annual International Conference 2023 Our International Conference brings together Duchenne families, clinicians, therapists, researchers, pharmaceutical companies and, most importantly, those living with Duchenne muscular dystrophy from across the globe. Read all about the Conference 2023 below: Watch some of our key recordings below Conference 2023 Photos The professional photos taken during our 2023 International Conference
- [Duchenne Science 101](https://www.actionduchenne.org/duchenne-science-101/) - Watch the session recordings from our Annual Conference 2023. In this section, you can browse the recordings from the ”Duchenne Science 101"
- [Genetics - Blueprint of Duchenne Muscular Dystrophy](https://www.actionduchenne.org/genetics-blueprint-of-duchenne-muscular-dystrophy/) - Part 5 of Science Live is dedicated to ‘Genetics - Blueprint of Duchenne Muscular Dystrophy’ and covers a range of essential topics over four concise episodes. In this section we explore the blueprints of Duchenne muscular dystrophy by exploring the dystrophin gene and how genetic mutations occur. Using simple and straightforward language to tackle complex
- [Crucial Genetic Terminology](https://www.actionduchenne.org/crucial-genetic-terminology/) - Part 4 of Science Live is dedicated to ‘Crucial Genetic Terminology’ and covers a range of essential topics over three concise episodes. In the section ‘Crucial Genetic Terminology’, we will embark on a journey to demystify fundamental genetic concepts essential to understanding the underlying cause of Duchenne muscular dystrophy. We will explore three key concepts:
- [Diagnosis of Duchenne Muscular Dystrophy](https://www.actionduchenne.org/diagnosis-of-duchenne-muscular-dystrophy/) - In this section, we'll explore key components of the diagnostic journey: Firstly, physical assessments, with a particular focus on neuromuscular assessments. Secondly, looking at the various testing methods including blood tests (specifically creatine kinase levels), genetic testing and muscle biopsies, where we will even delve into histology images, helping you understand what's happening in the
- [Signs and Symptoms of Duchenne Muscular Dystrophy](https://www.actionduchenne.org/signs-and-symptoms-of-duchenne-muscular-dystrophy/) - Part 2 of Science Live is dedicated to ‘Signs and Symptoms of Duchenne Muscular Dystrophy’ and covers a range of essential topics over three episodes. Firstly we will explain the Gowers’ Sign, a characteristic manoeuvre that is a distinctive sign in children living with Duchenne. Our second video will then look at the hallmark signs
- [Facts about Duchenne muscular dystrophy](https://www.actionduchenne.org/facts-about-duchenne-muscular-dystrophy/) - Welcome to the first section of our bite-sized Duchenne science! We start by unravelling the origin of the name Duchenne muscular dystrophy, providing you with a deeper knowledge. We'll then shed light on such terms as Dystrophinopathies, and look at the significance of rare diseases. Dive into the epidemiology and prevalence of Duchenne Muscular Dystrophy
- [Hive - chat | support | info](https://www.actionduchenne.org/hive-chat-support-info/) - We know how overwhelming and relentless the day to day life admin of a parent carer of a child, young person or adult living with Duchenne is. Our online support sessions are a space to come if you need to share, offload, listen, get support, seek expert advice or ask any questions you have that
- [Information & Support Pack for Schools](https://www.actionduchenne.org/information-support-pack-for-schools/) - It is important for children and young people living with Duchenne muscular dystrophy to have the right support at school, but sometimes it's hard for parents and teachers to know where to begin. Our free information and support pack provides schools with a good understanding of what pupils living with Duchenne, and their families, need.
- [Thank you for your donation](https://www.actionduchenne.org/thank-you-for-your-donation/) - Thank you so much for your donation. It will help the children, young people, adults and families with Duchenne muscular dystrophy in their lives. Your impact Your donation will directly help us achieve our vision: a world where lives are no longer limited by Duchenne muscular dystrophy. Every penny you donate helps support our life-changing
- [Siblings](https://www.actionduchenne.org/siblings/) - We know that hearing other siblings share their stories and experiences can be very powerful and helpful. Read Logan's story 'Duchenne from the sidelines, a sibling perspective' Read Emily's blog 'my kind of normal' Read Hazel's story 'living with Duchenne as a sibling' Further support Duchenne Siblings Network Sibs.co.uk If you would like to share your experience
- [Exon skipping](https://www.actionduchenne.org/what-is-duchenne/duchenne-explained/glossary-of-research-terms/exon-skipping/) - Professor Dickinson’s team have also been involved in developing exon skipping drugs, which selectively target various exons. Exon skipping is a novel therapeutic approach to correct mutations in DMD patients and restore dystrophin expression. In order to understand the concept of exon skipping, it is first necessary to understand how genes work and how mutations in the dystrophin
- [Gene therapy](https://www.actionduchenne.org/what-is-duchenne/duchenne-explained/glossary-of-research-terms/gene-therapy/) - Dystrophin acts as a shock absorber in the body to prevent damage when muscles contract. Gene therapy is an experimental technique which aims to introduce a normal, healthy gene in place of the faulty one. Since multiple muscle groups are affected by Duchenne, this presents a challenge for the vector delivery of the dystrophin gene.
- [Mitochondria](https://www.actionduchenne.org/what-is-duchenne/duchenne-explained/glossary-of-research-terms/mitochondria/) - It has been suggested that mitochondrial dysfunction is among the earliest cellular deficits of mdx muscles, and that mitochondria in dystrophic muscles don’t respond well to injury. Raxone (Idebenone) is being developed by Santhera Pharmaceuticals, and is designed to slow the rate of respiratory decline in patients with Duchenne. Raxone is aimed at those patients who are over
- [Corporate partnerships](https://www.actionduchenne.org/get-involved/partner-with-us/corporate-partnerships/) - The team...work remotely from each other in busy environments, so they don’t often get the opportunity to work so closely for a shared goal. It was good to observe how this played out on the day, and gave me some more information about them which will be useful in the future Dawn Megginson (TSB volunteers
- [Campaign for Action Duchenne](https://www.actionduchenne.org/get-involved/campaign-for-change/campaign-for-action-duchenne/) - Campaigning definition 'An organised course of action to achieve a goal' Action Duchenne lead our families, friends and supporters to work together to make change happen. We know that through working together we can get our voices heard. We campaign in parliament to improve access to treatments and medicines. We work tirelessly to improve standards of
- [Access to medicines explained](https://www.actionduchenne.org/get-involved/campaign-for-change/access-to-medicines-explained/) - What is the Medicines and Healthcare Products Regulation Agency? The MHRA is the body given responsibility to supervise all medicinal products and regulate the activities of drug manufacturers in the UK. It seeks to effectively regulate and evaluate medicines and treatments based on high quality scientific research. As highlighted in a presentation given at Action Duchenne’s November
- [Standards of Care: Nutrition & Swallowing](https://www.actionduchenne.org/what-is-duchenne/supporting-you/standard-of-care/duchenne-standards-of-care-nutrition-swallowing/) - At the Action Duchenne International Conference in 2018, experts from across the world gave talks on topics around the current Standards of Care for Duchenne. Here, Jodi Allen, a senior speech & language therapist who works in neurological disease and dysphagia, talks on nutrition and swallowing in Duchenne muscular dystrophy. Watch Jodi's interview and overview
- [Being a female carrier](https://www.actionduchenne.org/what-is-duchenne/supporting-you/help-and-support-duchenne/female-carriers/) - Female Carrier leaflet Action Duchenne, in collaboration with Sue Kenwrick, Principal Genetic Councellor, Addenbrooke’s Hospital, Cambridge, have produced a ground-breaking leaflet for female carriers ‘Being a Carrier for Duchenne Muscular Dystrophy’. This leaflet was distributed to all Neuromuscular Centres, Genetic Services and groups working with families affected by Duchenne muscular dystrophy. The inspiration for this leaflet came from workshops for Duchenne
- [Holidays & experiences](https://www.actionduchenne.org/what-is-duchenne/supporting-you/guides-and-information/holidays-experiences/) - Duchenne will not define us, I want to experience the most incredible adventures with my boys, making memories that will last a lifetime Samantha Turner (parent) Here you will find a list of organisations and trusts that offer support and advice for holidays, experiences and most of all fun! Calvert Trust - The Calvert Trust enables people
- [Takin' Charge](https://www.actionduchenne.org/what-is-duchenne/supporting-you/takin-charge/) - No one has ever asked me what I want to do before Young person living with Duchenne Takin’ Charge was Action Duchenne’s Lottery-funded Transition to Adulthood Project for young people with Duchenne aged 14 – 19 years. It was shortlisted for the 2016 National Lottery Award for Education. Thanks to interventions such as steroids, cardiac
- [Standards of Care: Bone health & endocrine management](https://www.actionduchenne.org/what-is-duchenne/supporting-you/standard-of-care/duchenne-standards-of-care-bone-health-endocrine-management/) - At the Action Duchenne International Conference in 2019, experts from across the world gave talks on topics around the current Standards of Care for Duchenne. This first talk was given by Dr. Jarod Wong, and he explains Bone Health and Endocrine Management in Duchenne muscular dystrophy. Further reading Glossary of research terms Our research strategy
- [Duchenne Standards of Care: Genetic diagnosis](https://www.actionduchenne.org/what-is-duchenne/supporting-you/standard-of-care/duchenne-standards-of-care-genetic-diagnosis/) - At the Action Duchenne International Conference in 2018, experts from across the world gave talks on topics around the current Standards of Care for Duchenne. Annemieke Aartsma-Rus explains about the importance of genetic diagnosis of Duchenne muscular dystrophy. Watch Annemieke's interview and overview here. Further reading Glossary of research terms Our research strategy Help and
- [Genetics explained](https://www.actionduchenne.org/what-is-duchenne/duchenne-explained/genetics-explained/) - Duchenne is a genetic condition. This means the condition is caused by genetic mutations - alterations or changes - in a gene. Duchenne is caused by mutations in a single gene called the dystrophin gene. This short video with Dr Annemieke Aartsma-Rus gives an overview of genetics and genetic diagnosis in Duchenne . Duchenne can
- [Glossary of research terms](https://www.actionduchenne.org/what-is-duchenne/duchenne-explained/glossary-of-research-terms/) - Duchenne muscular dystrophy Duchenne muscular dystrophy is a complex condition and so is the science relating to it. However, over time families are often amazed by how much they come to understand. We have compiled a glossary of terms commonly used when discussing the science of human biology and genetics to help you understand Duchenne.
- [Potential therapies](https://www.actionduchenne.org/therapy-approaches/) - Duchenne muscular dystrophy is a complex condition affecting many parts of the body; as a result approaches to treating the condition can focus on many different areas including correcting the Dystrophin gene, reducing inflammation or protecting the heart. We have listed the potential therapies below, with more detailed pages you can click through. Contact us on
- [End of Life and Bereavement](https://www.actionduchenne.org/end-of-life-and-bereavement/) - Parents and family members have told us once their loved ones have passed on they no longer feel part of the Duchenne community as they were before. They have lost that connection that supported them for many years. We are here to make sure that important connections are maintained and to help you to access the
- [Recently diagnosed families](https://www.actionduchenne.org/what-is-duchenne/supporting-you/help-and-support-duchenne/recently-diagnosed-families/) - Thank you for taking the brave step to find out more about your child's diagnosis of Duchenne muscular dystrophy. What is Duchenne? Duchenne muscular dystrophy is a rare, muscle wasting condition which occurs mainly in boys and is often diagnosed around the age of 2 to 4. Although there is no cure for Duchenne, improvements
- [John Miller](https://www.actionduchenne.org/john-miller/) - Action Duchenne were saddened to hear of the passing of John Miller on 1st June 2023. John has been a fierce advocate for the Duchenne community in Scotland for many years, using his strong political background to lobby MSP's and the Scottish Government. Among other achievements, John was instrumental in setting up the Clinical Academic
- [Host a Summer Event](https://www.actionduchenne.org/host-a-summer-event/) - Start planning your Summer Fundraiser If you are thinking of organising your own summer event and are looking for inspiration, support and advice then you are in the right place. We have pulled together a few ideas to get you started. Summer party Host a party for your family, friends and neighbours in your garden.Think
- [Fundraising Ideas A-Z](https://www.actionduchenne.org/fundraising-ideas-a-z/) - Fundraising Ideas A-Z Our fundraising ideas are guaranteed to get you off to the best start. Skydive - skydive blog
- [Family stories](https://www.actionduchenne.org/what-is-duchenne/supporting-you/family-stories/) - The families we support often want to share their stories, to provide a message to others that there is hope and people out there who understand what you are going through. If you would like to share your family story please email info@actionduchenne.org
- [Science on Tour: Knowledge is power](https://www.actionduchenne.org/events-and-challenges/duchenne-support-science-on-tour/) - Science on Tour: Knowledge is power
- [Sign up for our newsletter](https://www.actionduchenne.org/sign-up-for-our-newsletter/) - Subscribe * indicates required Email Address * Marketing permissions I would like to hear updates and information from Action Duchenne about their life-changing work and events. Email You can unsubscribe at any time by clicking the link in the footer of our emails. For information about our privacy practices, please visit our website. We use
- [Accessibility](https://www.actionduchenne.org/accessibility/) - We are committed to providing a website that is accessible to the widest possible audience, regardless of technology or ability. We are actively working to increase the accessibility and usability of our website and in doing so adhere to many of the available standards and guidelines. This website endeavours to conform to level Double-A of the
- [Contact us](https://www.actionduchenne.org/contact/) - Our offices are open 9-5 Monday to Friday. Please email info@actionduchenne.org or call us on 07535 498 506.
- [Annual International Conference 2022](https://www.actionduchenne.org/annual-international-conference-2022/) - Our International Conference brings together Duchenne families, clinicians, therapists, researchers, pharmaceutical companies and, most importantly, those living with Duchenne muscular dystrophy from across the globe. Read all about the Conference 2022 below. Each year at the conference young people are welcome to join us in The Hangout, which we provide free of charge. You can
- [Action Duchenne Members Meeting April 2023](https://www.actionduchenne.org/action-duchenne-members-meeting-april-2023/)
- [Easter Opening Hours](https://www.actionduchenne.org/easter-opening-hours/) - We hope you have a wonderful Easter and get a chance to relax and hopefully enjoy some good weather. Our Easter Opening Hours are GOOD FRIDAY 7TH APRIL - CLOSED EASTER MONDAY 10TH APRIL - CLOSED TUESDAY 11TH to FRIDAY 14TH APRIL - OPEN AS USUAL Get in touch at info@actionduchenne.org or on 07535 498
- [Applying for grants for equipment](https://www.actionduchenne.org/applying-for-grants-for-equipment/) - Applying-for-grants-for-equipment-Action-DuchenneDownload
- [Grief](https://www.actionduchenne.org/grief/) - Grief is different for everyone. We are here to help Duchenne families navigate their journey, and we are here for you now. Please email info@actionduchenne.org or call 07535 498 506 and one of our support team will get back to you. Bereavement Webinar Our Support Officers Victoria and Angela talked to Ann Chalmers, Chief Executive of Child
- [Patient Organisations](https://www.actionduchenne.org/get-involved/partner-with-us/patient-organisations/) - Tackling Duchenne muscular dystrophy takes an international effort. We collaborate with patient organisations from all over the world; both Duchenne specific and Rare Disease patient organisations. We collaborate on research, publishing vital information, campaign on policy objectives and jointly fund projects including; AFMMDUK Policy Duchenne UK and Harrison's Fund for Accident & Emergency App Genetic
- [University and Research Institutions](https://www.actionduchenne.org/get-involved/partner-with-us/university-and-research-institutions/) - Action Duchenne collaborates with world-renowned Universities and the leading Researchers to find a cure for Duchenne muscular dystrophy. Contact us to discuss partner opportunities.
- [Partner with us](https://www.actionduchenne.org/get-involved/partner-with-us/) - Action Duchenne works with a whole range of stakeholders, both in the UK and Internationally to advance the cause of everyone living with Duchenne muscular dystrophy.
- [Charity of the Year](https://www.actionduchenne.org/get-involved/ways-you-can-help-fundraise/corporate-partnerships/) - Duchenne muscular dystrophy is a rare condition, not many people have heard of it before. Nominating us as your Charity of the Year is a unique opportunity for your staff to get behind our lesser known but life changing cause, showing how your company is committed to making a real difference. Action Duchenne is at
- [Finding Help and Support: End of Life and Bereavement](https://www.actionduchenne.org/finding-help-and-support-end-of-life-and-bereavement/) - We want you to know that you are not alone and we are here for you. Searching the internet for support can be tough to do at this time, so we have made a list of some organisations that can offer help and support. Duchenne Family Support Group Family, Friends and Duchenne Together for Short
- [Fundraise as you shop](https://www.actionduchenne.org/fundraise-as-you-shop/) - There are lots of easy ways to fundraise online, here are some of our favourites (and easiest!).
- [AD Notice of AGM 2023](https://www.actionduchenne.org/ad-notice-of-agm-2023/) - AD_Notice-of-the-AGM-2023.docxDownload AD_AGM-proxy-form-2023.docxDownload
- [Our partners](https://www.actionduchenne.org/about-us/our-partners/) - Working together Our Board of Trustees has directed that we should work with both the national and international Duchenne communities because only through close co-operation can we seek to find treatments and cures for Duchenne. This list of partner charities is by no means complete, but it shows the breadth of Duchenne organisations that
- [Get involved](https://www.actionduchenne.org/get-involved/)
- [Quarterly members meeting January 2023 - recorded presentation](https://www.actionduchenne.org/quarterly-members-meeting-january-2023-recorded-presentation/)
- [Learning and behaviour in Duchenne](https://www.actionduchenne.org/what-is-duchenne/supporting-you/learning-and-behaviour-in-duchenne/) - There are established behaviour and learning risks in Duchenne. Published studies have shown difficulties in the following areas: speech delay and/or language comprehensionlearning to read – especially phonicsproblems with counting and arithmeticshort term and working memory (holding something in your head while you do something else) – this is very important when you are learning
- [Supporting families with End of Life and Bereavement](https://www.actionduchenne.org/supporting-families-with-end-of-life-and-bereavement/)
- [Supporting children and young people living with Duchenne to have a positive transition from Primary to Secondary](https://www.actionduchenne.org/supporting-children-and-young-people-living-with-duchenne-to-have-a-positive-transition-from-primary-to-secondary/)
- [End of Life](https://www.actionduchenne.org/end-of-life/) - This stage or thinking about this stage is hard to navigate alone. We are here to help Duchenne families navigate their journey, and we are here for you now. Please email info@actionduchenne.org or call 07535 498 506 and one of our support team will get back to you. Other useful sources You may find this
- [Community Champion and Events Volunteers](https://www.actionduchenne.org/community-champion-and-events-volunteers/) - We’re recruiting! Community Champions and Events Volunteers Volunteer Roles Available: Community Champion Be the face of Action Duchenne in your community. If you have a passion for organising events and socialising with others, then this could be the perfect role for you! Why do we need you?We are looking for volunteer Community Champions to help
- [Giving Tuesday: A day of giving](https://www.actionduchenne.org/giving-tuesday/) - GivingTuesday was created in 2012 as a simple idea: a day that encourages people to do good. Over the last decade, this idea has grown into a global movement that inspires millions of people to give, collaborate, and celebrate generosity. On 29 November we want to make things easy for our supporters with our 5
- [Family fun days](https://www.actionduchenne.org/get-involved/ways-you-can-help-fundraise/family-fun-days/) - Action Duchenne representatives were very supportive from the start. Sam regularly touched base to offer help and support in the lead up to the event, and on the day Sam, Lynnette and Iain were amazing! We simply couldn't have achieved the same result without them. We would highly recommend Action Duchenne to anyone considering a
- [Host a Halloween Event](https://www.actionduchenne.org/host-a-halloween-event/) - If you are thinking of organising your own Autumnal or Halloween event and are looking for inspiration, support and advice then you are in the right place! We would love to hear from you. The work we do at Action Duchenne is fuelled by incredible people like you and your wonderful supporters, families and friends.
- [World Duchenne Awareness Day 2020](https://www.actionduchenne.org/world-duchenne-awareness-day-2020/) - affects about 2,500 people in the UK has no cure, and the only treatment is effective in only 13% caused by mutations that stop production of a vital muscle protein first appears early in life and is usually diagnosed around 4 years old causes the muscles to weaken and waste away over time reduces life
- [De-clutter and donate](https://www.actionduchenne.org/de-clutter-and-donate/) - Virgin Money have partnered up with online buyer Ziffit to give you a quick and easy way to raise funds and it won’t cost you a penny. Ziffit is a free web service that instantly values your books, games, DVDs and CDs and generates cash quickly – which can be donated directly to your fundraising
- [Inclusive PE lessons](https://www.actionduchenne.org/inclusive-pe-lessons/) - 'This resource is going to be a game-changer for schools, giving them the tools to truly make sport and PE equitable for everyone. I have already started sharing this with the families I support here at Great Ormond Street and I highly recommend it to all Physios, OTs, teachers, TAs and educational professionals who care
- [Your support will change lives](https://www.actionduchenne.org/your-support-will-change-lives/) - Thank you for supporting us at the CAMRA Great British Beer Festival 2022. What is Duchenne? Duchenne muscular dystrophy is a rare, muscle wasting condition which occurs mainly in boys and is often diagnosed around the age of 2 to 4. Although there is no cure for Duchenne, improvements in standards of care mean that
- [Standards of care](https://www.actionduchenne.org/what-is-duchenne/supporting-you/standard-of-care/) - You'll often hear people talk about the Duchenne Standards of Care. This document was written by leading clinicians from around the world and sets out the care that people living with the condition should receive. The standards of care is a technical document, so Treat-NMD has released a families guide that is available for download. This
- [Work for Good](https://www.actionduchenne.org/work-for-good/) - Action Duchenne has joined Work for Good, an online platform that makes it easy for small businesses to support our life-changing work. How to get involved The team at Work for Good are on hand to support you every step of the way. Your business has the power to make a positive impact, whatever you
- [Terms & Conditions](https://www.actionduchenne.org/terms-conditions/) - Terms and conditions of use Introduction 1.1 These terms and conditions shall govern your use of our website. 1.2 By using our website, you accept these terms and conditions in full; accordingly, if you disagree with these terms and conditions or any part of these terms and conditions, you must not use our website. 1.3
- [Making a Christmas donation](https://www.actionduchenne.org/donate-now/making-a-christmas-donation/) - When you make a donation to Action Duchenne at Christmas, your gift will give the children, young people, adults and their families living in the United Kingdom access to; Action Duchenne provided a vital support mechanism for my wife and I after John was diagnosed. It made a huge difference to have people we could
- [Steroids and sickness](https://www.actionduchenne.org/steroids-and-sickness/) - If you have questions about steroid stress dosing, or your child or young person is unable to take a steroid dose down (or keep it down for an hour), we recommend you contact your GP, neuromuscular centre or care adviser. If you let them know that you have a child or young person on steroids,
- [Lottery backs ‘All-through Support’ for Duchenne](https://www.actionduchenne.org/lottery-backs-all-through-support-for-duchenne/) - Young people, adults and families affected by Duchenne muscular dystrophy to gain life-long support in Lottery-supported project. Action Duchenne will offer Duchenne patients and their families across England emotional and practical support through their entire Duchenne journey giving families access to essential support through diagnosis, transition to adulthood and living independently. Duchenne is a progressive
- [Virtual conference booth page specifications](https://www.actionduchenne.org/virtual-conference-booth-specification/) - Your virtual booth is a fully customisable space within our conference app. It can display as much of the information below as you would like. If you leave a box blank, nothing will show up (e.g. if you do not provide an email address there will not be an email button). You can specify 2
- [Supporter Thank You Video](https://www.actionduchenne.org/supporter-thank-you-video/) - We are proud to share a message of thanks with you, created and produced by 13 year old Duchenne sibling, Eve.
- [Thank you](https://www.actionduchenne.org/thank-you/) - Thank you for setting up a regular donation and for becoming a Member of Action Duchenne. Over the next few days you will receive your optional welcome pack, and please take a moment to register your place at the Quarterly Members' Meetings. Thank you for helping power our vital and life-changing work; funding research for
- [Virtual fundraising](https://www.actionduchenne.org/virtualfundraising/) - As we all know, the pandemic has been hard on everyone and in many ways. Activity levels and mental well-being have suffered. However, we are excited to provide you with opportunities to get moving! We have events for anyone and everyone who wants to get involved. Challenges for all ages and abilities; adults, for young
- [Research we are funding](https://www.actionduchenne.org/what-is-duchenne/our-research/research-we-are-funding/) - (Action Duchenne) do so much in raising awareness and funds for medical research. We really commend all of you on your time and efforts and determinationOliver de Laslo (Parent) Our current research projects
- [Book to meet Father Christmas (online!)](https://www.actionduchenne.org/book-to-meet-father-christmas-online/) - Your family are invited to meet Father Christmas in his magical festive Grotto from the comfort of your own home. We are delighted to offer Duchenne families this wonderful opportunity to have a one to one chat and meet the big man himself online at a time when it's not possible in person. You will
- [Challenge events £1 offer](https://www.actionduchenne.org/get-involved/ways-you-can-help-fundraise/challenge-events/) - Take on a challenge in 2021, support Action Duchenne and tick off a few resolutions – all for just £1! Sign up for a Charity Sponsorship place for just £1 Take on a 100km, 50km or 25km Ultra Challenge - and walk, jog or run your way along one of 14 great courses across the
- [Clinical trials](https://www.actionduchenne.org/what-is-duchenne/duchenne-explained/clinical-trials/) - It’s down to Action Duchenne that so many trials are now taking shapeRichard Smith (Illingworth Research Group) When Action Duchenne was founded in 2001 there were no Duchenne clinical trials taking place in the UK. Since then the number of clinical trials and research into Duchenne has grown exponentially. The DMD Registry In 2006 we set up our DMD
- [Give as you Live for Action Duchenne](https://www.actionduchenne.org/get-involved/ways-you-can-help-fundraise/give-as-you-live-for-action-duchenne/) - Support us this Christmas by generating donations when you shop online for gifts and more via Give as you Live Online. 💸 It's free📱 There's a handy app🛍️ There are over 4,000 stores!
- [Welcome to the virtual Action Duchenne International Conference](https://www.actionduchenne.org/welcome-to-the-virtual-action-duchenne-international-conference/) - Thank you for registering to join the virtual #ADCONF20 over the weekend of 14 and 15 November. We have received your details and are currently transferring your information into the Conference platform. You will have access to this platform the next working day. Enter the Conference platform - adconf20.com (Having trouble entering the platform? Simply
- [Register now for #ADCONF20](https://www.actionduchenne.org/register-now/) - Our Annual International Conference will take place online this year. The event is free to attend for those living with Duchenne and their families, friends and those who support them and work with them. The Conference will be a content-packed, online event unlike anything we have produced before. It will focus on the weekend of
- [#WDAD2020: The brain and Duchenne](https://www.actionduchenne.org/the-brain-and-duchenne/) - Those living with Duchenne muscular dystrophy are more likely to experience learning difficulties and behavioural issues but nobody is exactly sure why. Scientists have shown that some forms of dystropin (the protein missing in Duchenne) are produced in the brain, but what it does and whether it's important isn't really understood. To mark World Duchenne
- [The brain and Duchenne](https://www.actionduchenne.org/mutations/) - The theme for World Duchenne Awareness Day is the brain and Duchenne. Those living with Duchenne are more likely to experience learning difficulties and behavioural issues but nobody is exactly sure why. Scientists have shown that some forms of dystropin (the protein missing in Duchenne) are produced in the brain, but what it does and
- [Test title placing](https://www.actionduchenne.org/test-title-placing/)
- [Speaker information](https://www.actionduchenne.org/speaker-information/) - Please fill in this short survey to let us know how you would like to take part in the Action Duchenne conference. We will try our best to fit our event around your schedule.
- [Poster Submission](https://www.actionduchenne.org/poster-submission/) - Please use this form to upload your poster for the Action Duchenne International Conference 2020.
- [Career Legal bake off for Action Duchenne](https://www.actionduchenne.org/appeal/career-legal-bake-off-for-action-duchenne/) - Will you be judged as Bake Off winner, or will you have a soggy bottom? On Friday 8 June, bring your best Bakes (sweet or savoury, whichever you prefer!) to the office to take part in the Career Legal Bake Off for Action Duchenne. Each team can submit a Bake, which will be judged at
- [Skydive](https://www.actionduchenne.org/get-involved/ways-you-can-help-fundraise/skydive/) - It was such an amazing experience once in a life time! And I got to do that whilst raising money for Duchenne to help find a cure for little jack and all other children - Sarah Keys (family friend - Skydive North) Over the past 2 years, we had over 50 daring people across our four
- [Cardiomyopathy](https://www.actionduchenne.org/what-is-duchenne/duchenne-explained/glossary-of-research-terms/cardiomyopathy/) - In Duchenne, the heart is damaged before symptoms appear. Cardiac fibrosis refers to an usual thickening of the heart valves due to a growth of fibroblasts in the cardiac muscle. Fibrosis impedes the ability of the tissue to properly function, making it a lot stiffer, contributing to the progression of heart failure. ACE inhibitors are used to widen blood vessels,
- [Duchenne Standards of Care: Steroid Management](https://www.actionduchenne.org/what-is-duchenne-supporting-you-standard-of-care-duchenne-standards-of-care-steroid-management/) - At the Action Duchenne International Conference in 2018, experts from across the world gave talks on topics around the current Standards of Care for Duchenne. Here, Dr Michela Guglieri talks through steroid management for people living with Duchenne muscular dystrophy. Michela is a Research Fellow and Honorary Consultant at Newcastle University. Further reading Glossary of
- [Carrier workshops](https://www.actionduchenne.org/what-is-duchenne/supporting-you/carrier-workshops/) - Our carrier workshops are a great opportunity to exchange information, share advice and get support from other families. In the past the workshops have attracted female Carriers of the Duchenne gene, non-carriers and also partners and friends. The implications are important for all women who have a family history of Duchenne or who have had children with
- [Other protein targets](https://www.actionduchenne.org/what-is-duchenne/duchenne-explained/glossary-of-research-terms/other-protein-targets/) - Utrophin represents a novel target for treatment of Duchenne. It is naturally found in very low levels in the body. Utrophin production is switched off in mature muscle fibres and dystrophin takes over. The similarity between the two proteins suggests that in Duchenne, the upregulation of utrophin could compensate for the absence of dystrophin and could
- [Stop Codon Readthrough](https://www.actionduchenne.org/what-is-duchenne/duchenne-explained/glossary-of-research-terms/stop-codon-readthrough/) - All genes contain a stop and start codon so that the machinery which translates the instructions encoding a protein knows where to start and stop reading. According to the TREAT-NMD DMD global database, about 10-15% of DMD patients are affected by a nonsense stop codon mutation. This is where a stop codon is inserted into the middle
- [Campaign for change](https://www.actionduchenne.org/get-involved/campaign-for-change/)
- [Abseil](https://www.actionduchenne.org/get-involved/ways-you-can-help-fundraise/abseil/) - We loved every minute of the Action Duchenne abseil. The team spirit was strong and knowing that we were all partaking for such a worthy cause made swallowing our fear and taking the plunge that by easier. We can't wait for the next fundraising adventureNicole Greenfield-Smith (Aunt) Join the Extreme Abseil 2020 team and descend 418 feet
- [Golf days](https://www.actionduchenne.org/get-involved/ways-you-can-help-fundraise/golf-days/) - Action Duchenne representatives were very supportive from the start. Sam regularly touched base to offer help and support in the lead up to the event, and on the day Sam, Lynette and Iain were amazing! They helped us with all the organisation on the day to take the pressure of us and helped to circulate
- [Balls and charity dinners](https://www.actionduchenne.org/get-involved/ways-you-can-help-fundraise/balls-and-charity-dinners/) - Wow, what a night! I thoroughly enjoyed organising the event and it was great to see it come together on the night. We are extremely grateful for the support of friends and family and to have an enjoyable evening too was just perfect! We were very appreciative of the support from Action Duchenne (the AD team)
- [Muscle and Cell Biology](https://www.actionduchenne.org/what-is-duchenne/duchenne-explained/glossary-of-research-terms/muscle-and-cell-biology/) - Duchenne muscular dystrophy is the most common and severe form of muscular dystrophies, affecting 1 in 3500 male births. Young people with Duchenne have an alteration, known as a mutation in the dystrophin gene. The alteration means that they can’t produce the protein dystrophin, resulting in a progressive deterioration of muscle strength and function, where muscle is
- [Event Sponsorship](https://www.actionduchenne.org/get-involved/partner-with-us/event-sponsorship/) - By sponsoring an Action Duchenne event, you are enabling us to deliver life-changing events, providing information, support and advice to families and everyone living with Duchenne. As a sponsor you will gain exposure to the international Duchenne and Becker community and all the stakeholders we work with, including all patients, their families, world renowned Universities, innovative Biotechs and
- [Grandparents](https://www.actionduchenne.org/what-is-duchenne/supporting-you/help-and-support-duchenne/grandparents/) - We understand that being a Grandparent of a young person living with Duchenne is a unique position to be in. We have always included Grandparents in all of our support sessions for families, and actively encourage Grandparents to meet each other at the Conference. We welcome all Grandparents to our Carrier Workshops where you can share support and knowledge
- [Find work experience](https://www.actionduchenne.org/what-is-duchenne/supporting-you/find-work-experience/) - Whether you are looking for a paid internship, volunteer role or position for your school/uni holidays, we can help you. Often, our Corporate Partners (link to corporate partnerships) are able to offer work experience. We can offer you help and support to get the right role for you, please fill in the form here to
- [Pharmaceutical Companies](https://www.actionduchenne.org/get-involved/partner-with-us/pharmaceutical-companies/) - Action Duchenne works with and liaises closely with a wide range of Biotech and Pharmaceutical companies, working in the field of Duchenne research. We provide valuable insight into the patient experience and are able to link them to potential trial candidates via our UK DMD Registry. We collect evidence-based testimony from patients and families to
- [Adults living with Duchenne muscular dystrophy](https://www.actionduchenne.org/what-is-duchenne/supporting-you/guides-and-information/adults-living-with-duchenne-muscular-dystrophy/) - I now more feel optimistic and looking forward to next year where I hope to get more involved and possibly present a talk myself.Daniel Messenger (adult living with Duchenne) When Action Duchenne was founded in 2001, the average life expectancy for a young person living in the UK with Duchenne was late teens. It is
- [Adults living with Duchenne muscular dystrophy](https://www.actionduchenne.org/what-is-duchenne/supporting-you/help-and-support-duchenne/adults-living-with-duchenne-muscular-dystrophy/) - I now more feel optimistic and looking forward to next year where I hope to get more involved and possibly present a talk myself.Daniel Messenger (adult living with Duchenne) When Action Duchenne was founded in 2001, the average life expectancy for a young person living in the UK with Duchenne was late teens. It is
- [Help fund Duchenne Science on Tour 2](https://www.actionduchenne.org/donate-now/duchenne-science-on-tour-2/) - We applied to the Aviva Community Fund with a superb project, Duchenne Science on Tour 2. Every year, Aviva supports "charities doing great work across the UK with forward-thinking ideas" and we are so proud to announce we made it through to the LIVE round! Check out our Aviva project page How you can help?
- [Teenagers](https://www.actionduchenne.org/teenagers/) - (After taking part in the Takin' Charge project) No one has ever asked me what I want to do before Young person living with Duchenne Managing the teenage years can be tricky for anyone. We have always understood the importance of supporting teenagers living with Duchenne and their families through this stage in their life. How do we
- [Download fundraising pack](https://www.actionduchenne.org/get-involved/ways-you-can-help-fundraise/download-fundraising-pack/) - Download the fundraising pack now Get involved Call us on 020 7250 8240 if you need inspiration or help!Take part in an Action Duchenne eventFundraising ideasHelp and supportDonate now
- [Parents of juniors living with Duchenne](https://www.actionduchenne.org/what-is-duchenne/supporting-you/help-and-support-duchenne/parents-of-juniors-living-with-duchenne/) - I feel it’s time to get some help and support as we tackle the next phase “post diagnosis”. How do we start future proofing the home? How can I make Cormac’s schooling as inclusive as possible? When should we consider preventative heart medication?Gary Fegan (Parent & Trustee) Duchenne muscular dystrophy is a rare condition, and
- [Accident & Emergency file](https://www.actionduchenne.org/what-is-duchenne/supporting-you/guides-and-information/accident-emergency-file/) - Go to A&E file online Action Duchenne developed the Emergency pack for patients living with Duchenne, in partnership with Professor Kate Bushby and Dr Tracey Willis, from the Centre for Life in Newcastle. Why is the pack necessary? You are likely to know more about Duchenne than the doctors in the Accident and Emergency departmentMost
- [Volunteering during furlough](https://www.actionduchenne.org/volunteering-during-furlough/) - Short-term and one-off volunteer tasks available No commitment needed, we’ll use your skills to help make a difference. Have you been furloughed or are you looking for a voluntary role during lock-down?Can you spare us a couple of hours?Don’t want the commitment of a Volunteer role, but want to help?Now is your chance to really
- [IMPaCCt Study - Investigating the impact of COVID-19 on caregivers and patients.](https://www.actionduchenne.org/impacct-study-investigating-the-impact-of-covid-19-on-caregivers-and-patients/) - Researchers at Queen’s University Belfast and University of Aberdeen are conducting an online international survey, to gain an understanding of the impact COVID-19 is having on people with a rare disease and their caregivers. The survey is open to all patients and caregivers aged 18 years or older. To participate you will need to
- [Rare mutations](https://www.actionduchenne.org/mutations/rare/) - There are many types of mutations that cause Duchenne. This page lists some of the rarer mutations that cause Duchenne. If you have questions about a specific mutation, or your mutation type isn't listed here please email Neil or call us and we can provide more details. The dystrophin gene Duchenne is a genetic condition.
- [Nonsense mutations](https://www.actionduchenne.org/mutations/nonsense/) - Duchenne is a genetic condition. This means the condition is caused by genetic mutations – alterations or changes – in a gene. Duchenne is caused by mutations in a single gene called the dystrophin gene. These mutations prevent cells from producing the dystrophin protein which is needed for muscle function. What is a nonsense mutation?
- [Point mutations](https://www.actionduchenne.org/mutations/point/) - Duchenne is a genetic condition. This means the condition is caused by genetic mutations – alterations or changes – in a gene. Duchenne is caused by mutations in a single gene called the dystrophin gene. These mutations prevent cells from producing the dystrophin protein which is needed for muscle function. What is a point mutation?
- [Duplication mutations](https://www.actionduchenne.org/mutations/duplications/) - Duchenne is a genetic condition. This means the condition is caused by genetic mutations – alterations or changes – in a gene. Duchenne is caused by mutations in a single gene called the dystrophin gene. These mutations prevent cells from producing the dystrophin protein which is needed for muscle function. What is a duplication mutation?
- [Deletion mutations](https://www.actionduchenne.org/mutations/deletions/) - Duchenne is a genetic condition. This means the condition is caused by genetic mutations – alterations or changes – in a gene. Duchenne is caused by mutations in a single gene called the dystrophin gene. These mutations prevent cells from producing the dystrophin protein which is needed for muscle function. What is a deletion mutation?
- [Exon skipping](https://www.actionduchenne.org/therapy-approaches/exon-skipping/) - Genes are built of exons - pieces that must match their neighbours like a jigsaw. When a gene is read, the exons are assembled together in a process called splicing. When an exon is deleted this can stop the pieces joining and prevent cells producing dystrophin protein. Becker muscular dystrophy - a more mild condition
- [Translarna](https://www.actionduchenne.org/therapy-approaches/translarna/) - In August 2014, Translarna (ataluren) became the first drug to be given a conditional approval, by the European Medicines Agency (EMA), to treat an underlying genetic cause of Duchenne muscular dystrophy. Translarna has been designed to target a particular genetic mutation, called a ’nonsense mutation’ that causes 10-15 percent of cases of the condition. In
- [Translarna FAQ](https://www.actionduchenne.org/therapy-approaches/translarna/faq-2/)
- [Gene therapy](https://www.actionduchenne.org/therapy-approaches/gene-therapy/) - Duchenne muscular dystrophy is caused by mutations in the dystrophin gene that prevent the body producing the dystrophin protein. The idea behind gene therapy is simple: to add a second, healthy copy of the dystrophin gene, which cells can use to produce the dystrophin protein. Using viruses to deliver a gene Current trials are using
- [Passive and passive assisted physiotherapy videos](https://www.actionduchenne.org/passive-and-passive-assisted-physiotherapy-videos/) - Marina Di Marco, Principal Neuromuscular Physiotherapist at Queen Elizabeth University Hospital Glasgow, and long-time friend of Action Duchenne has kindly shared some adult physiotherapy resources with us. The videos feature Marina demonstrating passive and passive assisted movements which she uses to help support her training for carers and family members who help young people and
- [Organise a Virtual Quiz](https://www.actionduchenne.org/organise-a-virtual-quiz/) - A great way to keep you connected to your friends and family during COVID-19. Setting up your quiz First you need to which platform you'll use - Google Hangout, Zoom, House Party are just some suggestions - there's lots to choose from! It's worth remembering that some have limits on the number of people or
- [Virtual wine/gin/beer night](https://www.actionduchenne.org/virtual-wine-gin-beer-night/) - Missing that precious time out with your friends or family, enjoying your favourite tipple? Organise your own virtual social night, with your favourite group of people, and raise funds at the same time! Create fundraising page How to make it happen? Set a date, make it a date that all your favourite group can make
- [Thank you for attending the webinar](https://www.actionduchenne.org/thank-you-for-attending-the-webinar/) - In order to help us continually improve, please give us your valuable feedback below. Further information Register for other webinarsWatch the 'Talking with your child' webinar with Dr David SchonfeldWatch the 'Learning and behaviour' webinar with Dr James PoyskyHow you can help
- [Hold your own virtual competition](https://www.actionduchenne.org/hold-your-own-virtual-competition/) - Whatever you and your friends enjoy doing; from baking to sewing, art to crochet, you can turn it into a virtual competition. Create fundraising page How to make it happen? Pick your activity and deadline for entriesSet up your JustGiving page so you can ask for sponsorship for the competition, remember you can ask participants
- [Virtual talent show](https://www.actionduchenne.org/virtual-talent-show/) - Do you and your friends or local community have talent by the bucket load? Ever been told you have a lovely singing voice, or do you deliver punchlines like our very own Harry Hill? From budding magicians, karate kickers, pianists to poetry writers, you can include all talents in your online show. Create fundraising page
- [Make your daily exercise hour count](https://www.actionduchenne.org/make-your-daily-exercise-hour-count/) - Whatever activity you are doing to get daily exercise during isolation, you can turn into a fundraiser. From taking part in the 30 minutes PE with Joe Wicks, to running 10km (please remember the social distancing guidelines), doing your wheelchair physio exercises or riding on a balance bike, join our community fundraising team and get
- [Supporting our families through COVID -19](https://www.actionduchenne.org/supporting-our-families-through-covid-19/) - It’s more important than ever to keep talking, sharing and supporting each other through these unsettling times. We've put together this handy list of things to do with the kids over the coming weeks and months, we'll be updating this regularly, so come back and see whats new! Tune in each morning at 9am for
- [Supporting You](https://www.actionduchenne.org/what-is-duchenne/supporting-you/) - We are here to support you and your family at each part of the Duchenne journey. If you have specific questions, need support or would just like to chat to someone who completely understands, please get in touch with us.
- [Bungee jump](https://www.actionduchenne.org/get-involved/ways-you-can-help-fundraise/bungee-jump/) - Brave the Bungee If Abseiling and Skydiving aren't hair raising enough for you, why not take on a Bungee Challenge. There are jumps available at a variety of locations across the UK and across a range of dates so what are you waiting for? Contact us
- [Treasure hunts](https://www.actionduchenne.org/get-involved/ways-you-can-help-fundraise/treasure-hunts/) - What is a Treasure Hunt? A Treasure Hunt is a new, fun, exciting and easy way to explore towns, cities & villages across the UK this Summer whilst fundraising for Action Duchenne. Suitable for all ages, with many of the trails being pushchair and wheelchair friendly, what better way to get together with family and friends or
- [Shark encounter](https://www.actionduchenne.org/get-involved/ways-you-can-help-fundraise/shark-encounter/) - Not for the faint of heart, this is really an amazing challenge not to be missed. We have already had three fearless divers, Richard, Melissa and Molly, brave the tank and swim with sharks, and raising a fantastic total of over £2000. Will you be next? You will be swimming freely (no cages required) with Blue Planet Aquarium's collection
- [Annual International Conference 2019](https://www.actionduchenne.org/presentations/) - Slides and Presentations The Action Duchenne International Conference 2019 had 43 separate sessions (plus loads of activities for children and teenagers), meaning even those in attendance didn't get to see everything! Here we have compiled as many of those presentations as we can, so that the whole international Duchenne community can benefit from them. Please
- [Annual International Conference 2019](https://www.actionduchenne.org/testimonials/) - Testimonials We really enjoyed the Action Duchenne International Conference 2019, held at the Jurys Inn Hinckley Island Hotel on 15 and 16 November. Here's just some of the great feedback from families, researchers, supporters and companies attended the event; Lots of useful information held in a great venue. Could not fault it in any way.
- [Annual International Conference 2019](https://www.actionduchenne.org/photos/) - Photo Gallery Here's a selection of some photos from our amazing #ADCONF19. Back to #ADCONF19
- [Exhibiting at the Action Duchenne International Conference 2019](https://www.actionduchenne.org/exhibiting-at-the-action-duchenne-international-conference-2019/) - Jurys Inn, Hinckley Island, LeicestershireFriday 13 & Saturday 14 November 2020£1,000 per stand, including 2 x tickets to the ConferenceOver 270 children & young people living with Duchenne and their families in one venue We are delighted to offer you the opportunity to join us as an Exhibitor at the Action Duchenne International Conference 2020,
- [Gene therapy](https://www.actionduchenne.org/gene-therapy-2/)
- [Conference session information](https://www.actionduchenne.org/conference-session-information/) - This page contains a little bit of information about each session to give you an idea what you might see there.
- [Community Charity Partnerships](https://www.actionduchenne.org/get-involved-partner-with-us-community-partnerships/) - Choosing Action Duchenne as your Charity of the Year is a fantastic way to support our life-changing work. What is Duchenne? Duchenne muscular dystrophy is a rare genetic condition caused by mutations in the dystrophin gene, which prevent production of a vital muscle protein called dystrophin. The lack of dystrophin makes muscles more susceptible to
- [Duchenne Emergency](https://www.actionduchenne.org/emergency/) - The aim of this page is to enable A&E staff to access information immediately relevant to Duchenne muscular dystrophy. It is essential that clinicians understand the specific needs of persons with Duchenne when formulating a response to an A & E admission. Most people with Duchenne never need to go to an A&E, however this content has
- [Duchenne Emergency](https://www.actionduchenne.org/emergency/steroids/) - Steroid Treatment Do not omit the steroid dose for more than 24 hours – this can be dangerous! Many patients with Duchenne are being treated with corticosteroids, mainly prednisolone or more rarely deflazacort. This poses potential problems aside from the gastritis mentioned in the section about gastrointestinal problems. Of particular significance is the fact that patients on
- [Duchenne Emergency](https://www.actionduchenne.org/emergency/opiates/) - Use of Opiates It is well documented that whilst the use of certain anaesthetics can cause malignant hyperthermia-like reactions, Opiates are also potentially hazardous for this group of patients. There appears to be an increase in the susceptibility to opiates with enhanced respiratory depression and poor cough technique which is particularly important in patients who
- [Duchenne Emergency](https://www.actionduchenne.org/emergency/anaesthesia/) - Surgery and Anaesthesia This should ideally be done in a hospital with full service, PICU facilities and staff familiar with the care of Duchenne. There are a number of issues in providing anaesthesia for these patients, mainly respiratory but also consideration needs to be given if on steroids for steroid cover during the stress period
- [Duchenne Emergency](https://www.actionduchenne.org/emergency/fractures/) - Fractures Patients with Duchenne are more liable to suffer from fractures for a number of reasons: Less mobile and fall more frequently.Decreased bone density even in steroid naive patients.Steroid treatment reduces bone mineral density. In Hospital Ambulant patients should ideally be treated with internal fixation which aids early mobilisation. However, careful consideration should be taken regarding anaesthetic
- [Duchenne Emergency](https://www.actionduchenne.org/emergency/respiratory/) - Respiratory management Respiratory failure in Duchenne may present without the usual signs of respiratory distress. Subtle signs could include early morning headaches, fatigue,daytime sleepiness, reduced appetite and weight loss. Consider underlying respiratory failure in case of a chest infection. Respiratory infections need prompt treatment with antibiotics to prevent deterioration as well as regular physio to help
- [Duchenne Emergency](https://www.actionduchenne.org/emergency/gastrointestinal/) - Gastrointestinal Problems In Duchenne muscular dystrophy, gastrointestinal problems can range from poor oral intake and dysphagia with possible aspiration episodes with advancing disease. More commonly patients are prone to constipation, but more important is the possibility of peptic ulceration and abdominal pain – this is more frequently associated due to the treatment with steriods. Gastritis
- [Duchenne Emergency](https://www.actionduchenne.org/emergency/cardiovascular/) - Cardiovascular Disease Possible problems Hypertension: Secondary to steroids, particularly in younger, ambulant boys. 6-9 Cardiomyopathy: More common in non-ambulant teenagers and adults. Tachycardia: Commonly noted feature of the disease and also noted in systolic dysfunction. New onset sinus tachycardia with no clear aetiology warrants prompt cardiology assessment.9 Abnormalities in cardiac rhythm should be promptly investigated with Hotter monitoring
- [Raxone: A Guide for the Community](https://www.actionduchenne.org/get-involved/campaign-for-change/raxone-a-guide-for-the-community/) - Raxone (also known as Idebenone) is a drug produced by Santhera Pharmaceuticals, which treats several conditions and has the potential to treat Duchenne muscular dystrophy. It is presently available in the UK on the Early Access to Medicines Scheme for patients who meet the criteria. In partnership with fellow organisations, Muscular Dystrophy UK, Duchenne UK,
- [Fundraising feedback form](https://www.actionduchenne.org/fundraising-feedback-form/)
- [What is Duchenne?](https://www.actionduchenne.org/what-is-duchenne/)
- [News & Events](https://www.actionduchenne.org/news-events/)
- [Our Research](https://www.actionduchenne.org/what-is-duchenne/our-research/)
- [Duchenne Explained](https://www.actionduchenne.org/what-is-duchenne/duchenne-explained/)
- [About us](https://www.actionduchenne.org/about-us/)
- [Neil Robertson Memorial Run](https://www.actionduchenne.org/appeal/neil-robertson-memorial-run/) - I was lucky enough to spend my whole life calling local scoundrel and long-time thorn in the side of authority, Neil Robertson, my friend. Sadly in 2014, at the very, very old (and cantankerous) age of 31 Neil decided he had better things to do (leaving us all to pick up the impending fallout from
- [Appeals introduction](https://www.actionduchenne.org/appeal/) - We strive to help the causes with the greatest needs we can. Please help the cause closest to your heart and know your money has gone to help what you choose. View current projects Set up your own fundraiser page
- [Zip wire challenge in aid of Duchenne Muscular Dystrophy.](https://www.actionduchenne.org/appeal/zip-wire-challenge-in-aid-of-duchenne-muscular-dystrophy/) - Hi I'm Helen,In 2017 I got a message that no-one wants to read. My daughters best friend/my friends four year old son had been diagnosed with Duchenne Muscular Dystrophy. I had never heard of this illness and after a few minutes search on the Internet wished I still hadn't . I am taking part in
- [#shareyourhero and be #strongforsamson](https://www.actionduchenne.org/appeal/shareyourhero-and-be-strongforsamson/) - Do you have a real-life hero? Let them and others know - share your hero now Ever since our son Samson was diagnosed with Duchenne muscular dystrophy back in October 2015, we’ve made it our goal to ensure we are doing absolutely everything we can to help Samson and other people living with Duchenne. We
- [Set up a Fundraising page](https://www.actionduchenne.org/appeal/set-up-a-fundraising-page/) - Set up a Fundraising Page for your chosen project and then invite your friends, family and colleagues to get involved and support you. You can track how much money you have raised and keep people updated on your progress. Creating your Fundraising Page is really simple. Just choose a name for your page and add
- [Holiday Inn London Luton Airport Fundraising](https://www.actionduchenne.org/appeal/holiday-inn-london-luton-airport-fundraising/) - Welcome to our 2018 fundraising page! We will be working with Action Duchenne throughout the year to raise money for this amazing cause through charity events and other fundraising. Lets have some fun and raise some money! :) Action Duchenne is the UK charity dedicated to finding a cure or treatments for Duchenne & Becker muscular
- [Jenny’s abseil challenge](https://www.actionduchenne.org/appeal/jennys-abseil-challenge/) - I’m hoping to raise some money towards vital research to find treatments and eventually a cure for duchenne muscular dystrophy. Duchenne muscular dystrophy is an illness characterised by muscular degeneration and weakness. It currently has no cure. My lovely nephew Ryan sadly has this illness. He celebrated his ninth birthday this year. He currently uses
- [Marlene's Extreme Abseil for Action Duchenne](https://www.actionduchenne.org/appeal/marlenes-extreme-abseil-for-action-duchenne/) - Joe has a degenerative muscle wasting condition called Duchenne Muscular Dystrophy for which there is no cure. Joe is now in a wheelchair for most of the time, he never complains. Joe has to be brave everyday so I thought I could be brave too and Abseil 418ft down The National Lift Tower in Northampton,
- [Book a call to find out about the science behind Duchenne](https://www.actionduchenne.org/forms/book-a-call-to-find-out-about-the-science-behind-duchenne/)
- [Thank you for wanting to help](https://www.actionduchenne.org/forms/thank-you-for-wanting-to-help/)
- [Tell us your story](https://www.actionduchenne.org/forms/tell-us-your-story/)
- [Fundraising Pack Download](https://www.actionduchenne.org/forms/fundraising-pack-download/)
- [Please contact me](https://www.actionduchenne.org/forms/please-contact-me/) - We are here for you at all stages of your journey, please fill in a few details and we will get in touch with you.
- [Forms](https://www.actionduchenne.org/forms/)
- [DMD Registry policies](https://www.actionduchenne.org/what-is-duchenne/supporting-you/the-dmd-registry/dmd-registry-policies/) - DMD Registry information security policy DMD Registry data protection policy DMD Registry governance policy
- [Shop](https://www.actionduchenne.org/get-involved/shop/)
- [Schools](https://www.actionduchenne.org/get-involved/partner-with-us/schools/) - HK/ST to add content and testimonials
- [The campaign for Translarna](https://www.actionduchenne.org/get-involved/campaign-for-change/the-campaign-for-translarna/) - Since the start of 2015, Action Duchenne campaigned tirelessly for Translarna (ataluren) to be made available, exerting maximum external pressure upon NHS England, the National Institute of Health & Care Excellence, and the Scottish Medicines Consortium whilst working within their evaluation processes. Thanks to the campaigning and work by Action Duchenne and the community, this treatment is now available Campaign articles
- [Action Duchenne 'Where's My Chair' Wheelchair Campaign](https://www.actionduchenne.org/get-involved/campaign-for-change/action-duchenne-wheres-my-chair-wheelchair-campaign/)
- [How to raise funds through supermarkets](https://www.actionduchenne.org/get-involved/ways-you-can-help-fundraise/how-to-raise-funds-through-supermarkets/) - Supermarket bag packing If you would like to organise a bag pack for us, here are a few handy hints and tips to get you started! Supermarkets can get booked up in advance, so contact a few - ask whether they allow bag packing and if they have dates available.Check the available dates with your
- [Research we have funded](https://www.actionduchenne.org/what-is-duchenne/our-research/our-previous-research/) - Since our formation in 2001, Action Duchenne has invested more than £4m in research, working with more than 15 organisations to fund research across 4 continents. Below are some of the projects that we have supported in the past.
- [Cardiac focus groups](https://www.actionduchenne.org/what-is-duchenne/supporting-you/cardiac-focus-groups/) - On Saturday 22 July we held a crucial, one of it's kind Cardiac Focus Group, at the Action Duchenne offices in Leytonstone, East London.We held the meeting to establish from patients with Duchenne muscular dystrophy whether, if their hearts became weakened more than a certain amount, they would want to know that there was a possibility of heart rhythm
- [Education professionals](https://www.actionduchenne.org/what-is-duchenne/supporting-you/help-and-support-duchenne/education-professionals/) - There are established behaviour and learning risks in Duchenne. Published studies have shown difficulties in the following areas: speech delay and/or language comprehensionlearning to read – especially phonicsproblems with counting and arithmeticshort term and working memory (holding something in your head while you do something else) – this is very important when you are learning
- [Tell us your story](https://www.actionduchenne.org/what-is-duchenne/supporting-you/family-stories/tell-us-your-story/) - Your story is important to us and to other people in the Duchenne community. Please share your story with us, your experiences will help other people going through the same journey. If you are including lots of information, please feel free to email lynnette@actionduchenne.org to avoid losing your story.
- [Testosterone](https://www.actionduchenne.org/what-is-duchenne/duchenne-explained/glossary-of-research-terms/testosterone/) - Corticosteroid treatment in muscular dystrophy patients brings with it side effects such as delayed puberty onset, and compromised growth. Testosterone treatment has been well established for the treatment of delayed puberty in patients with chronic diseases such as inflammatory bowel disease and cystic fibrosis. Testosterone is a popular adjuvant therapy which can help to address patients’
- [Sodium/calcium exchanger](https://www.actionduchenne.org/what-is-duchenne/duchenne-explained/glossary-of-research-terms/sodium-calcium-exchanger/) - All our cells require small ions called sodium and calcium ions to be able to function. To prevent muscle cell damage it is very important that cells have the correct amounts of these ions. The sodium-calcium exchanger is a small protein found in cells; it removes calcium, and allows sodium to enter. When this protein is functioning
- [Stem cell therapy](https://www.actionduchenne.org/what-is-duchenne/duchenne-explained/glossary-of-research-terms/stem-cell-therapy/) - Stem cell research may lead to new treatments for Duchenne muscular dystrophy. Normally, muscle stem cells called satellite cells, respond to damage to quickly repair muscle tissue. In Duchenne, these satellite cells cannot respond well to damage and since the body cannot make new satellite cells, these soon become depleted. Stem cell therapy aims to repair
- [Rare Repurposing in Duchenne](https://www.actionduchenne.org/what-is-duchenne/duchenne-explained/glossary-of-research-terms/rare-repurposing-in-duchenne/) - This is a project which will investigate the use of four drugs currently being used to treat cancer as potential treatments for Duchenne. The project is being led by Professor Winder in the Department of Biomedical Science at the University of Sheffield. The idea behind this research stems from observing some of the similarities between
- [NF-kB inhibitor](https://www.actionduchenne.org/what-is-duchenne/duchenne-explained/glossary-of-research-terms/nf-kb-inhibitor/) - NF-kB has a role in potentiating muscle degeneration in Duchenne, and plays an important role in inflammation. Mouse models of DMD have shown that disease severity is reduced when NF-kB is inhibited. Recent results of the phase 2 Move-DMD trial revealed that Catabasis Pharmaceuticals drug candidate Edasalonexent (CAAT-1004) slowed the rate of functional decline in
- [Muscle cellular stress](https://www.actionduchenne.org/what-is-duchenne/duchenne-explained/glossary-of-research-terms/muscle-cellular-stress/) - Muscle cellular stress refers to the way that muscle cells respond when they are exposed to stress, for example, stress caused by a lack of dystrophin. Cells can either respond by trying to protect themselves or by initiating their own death. The type of response that muscles produce can impact the potential benefit of treatments such
- [Anti-inflammatory drugs](https://www.actionduchenne.org/what-is-duchenne/duchenne-explained/glossary-of-research-terms/anti-inflammatory-drugs/) - Inflammation is a healthy response which is known to aid in the cleanup and restoration of damaged muscle. In Duchenne, however, these responses are almost permanently activated and therefore become damaging to the repair process. Researchers are working to understand and interfere with the inflammation that is taking place in and around muscle fibres in Duchenne.
- [Gene editing (CRISPR/CAS9)](https://www.actionduchenne.org/what-is-duchenne/duchenne-explained/glossary-of-research-terms/gene-editing-crispr-cas9/) - CRISPR/Cas9 is a new genome editing technique which is used to make precise changes in the DNA to remove the Duchenne mutation from the genome. Cas9 is an enzyme which can can cut DNA, whilst CRISPR is a short strand of RNA (chemical messenger). There are many different mutations in the dystrophin gene known to cause Duchenne. Scientists have found
- [Anti-fibrotics](https://www.actionduchenne.org/what-is-duchenne/duchenne-explained/glossary-of-research-terms/anti-fibrotics/) - Fibrosis is the process by which damaged tissue, for example, muscle tissue is replaced by fat and connective tissue. Fibrosis is similar to scarring and impedes the ability of the tissue to properly function. Scientists have observed that as the extent of fibrosis in muscle tissue increases, the function of the muscle decreases. Therefore, researchers are
## FAQs
- [Looking to the future – Are there treatments for Duchenne?](https://www.actionduchenne.org/faq/looking-to-the-future-are-there-treatments-for-duchenne/)
- [How is Duchenne inherited?](https://www.actionduchenne.org/faq/how-is-duchenne-inherited/)
- [Where can I get help?](https://www.actionduchenne.org/faq/where-can-i-get-help/)
- [What causes Duchenne?](https://www.actionduchenne.org/faq/what-causes-duchenne/)
- [Behaviour and learning risks in Duchenne](https://www.actionduchenne.org/faq/behaviour-and-learning-risks-in-duchenne/)
- [What is the role of dystrophin in Duchenne?](https://www.actionduchenne.org/faq/what-is-the-role-of-dystrophin-in-duchenne/)
- [Swimming](https://www.actionduchenne.org/faq/swimming/)
- [More about the 'Yes I can' residential](https://www.actionduchenne.org/faq/more-about-the-yes-i-can-residential/)
- [Inclusive PE training](https://www.actionduchenne.org/faq/inclusive-pe-training/)
- [Youth Sport Trust](https://www.actionduchenne.org/faq/youth-sport-trust/)
- [Circuits](https://www.actionduchenne.org/faq/circuits/)
- [Further guidelines for teachers](https://www.actionduchenne.org/faq/further-guidelines-for-teachers/)
- [Clothing](https://www.actionduchenne.org/faq/clothing/)
- [Warm up activities](https://www.actionduchenne.org/faq/warm-up-activities/)
- [Teaching Umpire Skills](https://www.actionduchenne.org/faq/teaching-umpire-skills/)
- [Safety issues](https://www.actionduchenne.org/faq/safety-issues/)
- [Obstacle course](https://www.actionduchenne.org/faq/obstacle-course/)
- [Balloon Volleyball](https://www.actionduchenne.org/faq/balloon-volleyball/)
- [Beanbag Hockey](https://www.actionduchenne.org/faq/beanbag-hockey/)
- [Orienteering](https://www.actionduchenne.org/faq/orienteering/)
- [Golf](https://www.actionduchenne.org/faq/golf/)
- [Target/toss games](https://www.actionduchenne.org/faq/target-toss-games/)
- [Remote control car](https://www.actionduchenne.org/faq/remote-control-car/)
- [Horseshoes](https://www.actionduchenne.org/faq/horseshoes/)
- [Frisbee](https://www.actionduchenne.org/faq/frisbee/)
- [Hockey](https://www.actionduchenne.org/faq/hockey/)
- [Dancing](https://www.actionduchenne.org/faq/dancing/)
- [Marbles](https://www.actionduchenne.org/faq/marbles/)
- [Catapult](https://www.actionduchenne.org/faq/catapult/)
- [Kite flying](https://www.actionduchenne.org/faq/kite-flying/)
- [Volleyball](https://www.actionduchenne.org/faq/volleyball/)
- [Boccia](https://www.actionduchenne.org/faq/boccia/)
- [Table top cricket](https://www.actionduchenne.org/faq/table-top-cricket/)
- [Football](https://www.actionduchenne.org/faq/football/)
- [Bowling](https://www.actionduchenne.org/faq/bowling/)
- [Badminton](https://www.actionduchenne.org/faq/badminton/)
- [Rounders or tennis](https://www.actionduchenne.org/faq/rounders-or-tennis/)
- [Conference brochure 2021](https://www.actionduchenne.org/faq/conference-brochure-2021/)
- [View and download LIVE agenda](https://www.actionduchenne.org/faq/adconf21-agenda/)
- [Newly diagnosed family event LIVE agenda and information](https://www.actionduchenne.org/faq/newly-diagnosed-family-event-live-agenda/)
- [London 16/10/21](https://www.actionduchenne.org/faq/london-16-10-21/)
- [Edinburgh 7/10/21](https://www.actionduchenne.org/faq/edinburgh-7-10-21/)
- [Conference testimonials](https://www.actionduchenne.org/faq/testimonials/)
- [Swansea 2/10/21](https://www.actionduchenne.org/faq/swansea-2-10-21/)
- [Exeter 26/6/21](https://www.actionduchenne.org/faq/exeter-26-6-21/)
- [Digital Data Analyst/Google Analytics volunteer - role profile](https://www.actionduchenne.org/faq/google-adwords-volunteer-role-profile/)
- [YouTube channel volunteer - role profile](https://www.actionduchenne.org/faq/youtube-channel-volunteer-role-profile/)
- [Digital design volunteer - role profile](https://www.actionduchenne.org/faq/digital-design-volunteer-role-profile/)
- [Video production volunteer - role profile](https://www.actionduchenne.org/faq/video-production-volunteer-role-profile/)
- [Social media volunteer - role profile](https://www.actionduchenne.org/faq/social-media-volunteer-role-profile/)
- [Genetics and Duchenne](https://www.actionduchenne.org/faq/genetics-and-duchenne/)
- [Action Duchenne International Conference 2019 - Saturday Agenda](https://www.actionduchenne.org/faq/2715/)
- [Action Duchenne International Conference 2019 - Friday agenda](https://www.actionduchenne.org/faq/action-duchenne-international-conference-2019-friday-agenda/)
- [Adults living with Duchenne & the DMD Pathfinders](https://www.actionduchenne.org/faq/dmd-pathfinders/)
- [Accessible gaming](https://www.actionduchenne.org/faq/accessible-gaming/)
- [Learning and Behaviour in Duchenne](https://www.actionduchenne.org/faq/schonfeld-and-poysky-return-for-popular-sessions/)
- [Talking to your Children about Duchenne – diagnosis, treatment, hopes and dreams](https://www.actionduchenne.org/faq/talking-to-your-children-about-duchenne-diagnosis-treatment-hopes-and-dreams/)
- [Siblings Stories](https://www.actionduchenne.org/faq/siblings-stories/)
- [Duchenne Education Programme](https://www.actionduchenne.org/faq/duchenne-education-programme/)
- [Meet the exhibitors](https://www.actionduchenne.org/faq/exhibitors-2/)
- [Research posters](https://www.actionduchenne.org/faq/research-posters/)
- [Newly diagnosed parents at the conference](https://www.actionduchenne.org/faq/newly-diagnosed-parents-at-the-conference/)
- [Free childcare up to 18 years of age](https://www.actionduchenne.org/faq/the-hang-out/)
- [Collection Tin Coordinator - volunteer role profile](https://www.actionduchenne.org/faq/collection-tin-coordinator-volunteer-role-profile/)
- [Fundraising Executive - volunteer role profile](https://www.actionduchenne.org/faq/fundraising-executive-volunteer-role-profile/)
- [Events Volunteer - volunteer role profile](https://www.actionduchenne.org/faq/bucket-collection-coordinator-volunteer-role-profile/)
- [Fundraising Champion - volunteer role profile](https://www.actionduchenne.org/faq/community-champion-volunteer-role-profile/)
- [The Hangout](https://www.actionduchenne.org/faq/the-hangout/)
- [When is the MAA ending?](https://www.actionduchenne.org/faq/when-is-the-maa-ending/)
- [What happens at the end of the MAA?](https://www.actionduchenne.org/faq/what-happens-at-the-end-of-the-maa/)
- [Are there any reasons I will stop receiving Translarna via the MAA?](https://www.actionduchenne.org/faq/are-there-any-reasons-i-will-stop-receiving-translarna-via-the-maa/)
- [What is the purpose of gathering Quality of Life data?](https://www.actionduchenne.org/faq/what-is-the-purpose-of-gathering-quality-of-life-data/)
- [Who is eligible for the Translarna MAA?](https://www.actionduchenne.org/faq/who-is-eligible-for-the-translarna-maa/)
- [What is a Managed Access Agreement?](https://www.actionduchenne.org/faq/what-is-a-managed-access-agreement/)
- [Can you take Translarna when you are on steroids?](https://www.actionduchenne.org/faq/can-you-take-translarna-when-you-are-on-steroids/)
- [How does Translarna work?](https://www.actionduchenne.org/faq/how-does-translarna-work/)
- [Can you get Translarna if you are non-ambulatory?](https://www.actionduchenne.org/faq/can-you-get-translarna-if-you-are-non-ambulatory/)
- [Is Translarna available for children under 5 years old?](https://www.actionduchenne.org/faq/is-translarna-available-for-children-under-5-years-old/)
- [Who is Translarna for?](https://www.actionduchenne.org/faq/who-is-translarna-for/)
- [What is Translarna](https://www.actionduchenne.org/faq/what-is-translarna/)
- [Company updates hosted by Professors Muntoni and Straub](https://www.actionduchenne.org/faq/company-updates-hosted-by-professors-muntoni-and-straub/)
- [Carriers: Reproduction](https://www.actionduchenne.org/faq/carriers-reproduction/)
- [Exhibitors](https://www.actionduchenne.org/faq/exhibitors/)
- [Booking your hotel room](https://www.actionduchenne.org/faq/the-venue/)
- [Why Superhero Series was born](https://www.actionduchenne.org/faq/why-superhero-series-was-born/)
- [Halesowen Golf Club](https://www.actionduchenne.org/faq/halesowen-golf-club/)
- [What are the early signs and symptoms of Duchenne?](https://www.actionduchenne.org/faq/what-are-the-early-signs-and-symptoms-of-duchenne/)
- [How do the symptoms progress in Duchenne?](https://www.actionduchenne.org/faq/how-do-the-symptoms-progress-in-duchenne/)
- [Steering committee](https://www.actionduchenne.org/faq/steering-committee/)
- [TREAT-NMD Neuromuscular Network alliance](https://www.actionduchenne.org/faq/treat-nmd-neuromuscular-network-alliance/)
- [Security](https://www.actionduchenne.org/faq/security/)
- [Data](https://www.actionduchenne.org/faq/data/)
- [Consent](https://www.actionduchenne.org/faq/consent/)
- [Contact](https://www.actionduchenne.org/faq/contact/)
- [Why join the DMD Registry?](https://www.actionduchenne.org/faq/why-join-the-dmd-registry/)
- [Purpose of the DMD Registry](https://www.actionduchenne.org/faq/purpose-of-the-dmd-registry/)
- [Facts about the DMD Registry](https://www.actionduchenne.org/faq/facts-about-the-dmd-registry/)
- [Am I eligible to join the DMD Registry?](https://www.actionduchenne.org/faq/am-i-eligible-to-join-the-dmd-registry/)
- [How do I join the DMD Registry?](https://www.actionduchenne.org/faq/how-do-i-join-the-dmd-registry/)
- [What is the DMD Registry?](https://www.actionduchenne.org/faq/what-is-the-dmd-registry/)
- [What are the stages in the clinical trial process?](https://www.actionduchenne.org/faq/what-are-the-stages-in-the-clinical-trial-process/)
- [Why take part in a clinical trial?](https://www.actionduchenne.org/faq/why-take-part-in-a-clinical-trial/)
- [What are clinical trial endpoints?](https://www.actionduchenne.org/faq/what-are-clinical-trial-endpoints/)
- [How are drugs licensed and approved in the UK?](https://www.actionduchenne.org/faq/how-are-drugs-licensed-and-approved-in-the-uk/)
- [How are clinical trials designed?](https://www.actionduchenne.org/faq/how-are-clinical-trials-designed/)
- [What are clinical trials? – Watch the video](https://www.actionduchenne.org/faq/what-are-clinical-trials-watch-the-video/)
- [How is the dystrophin gene altered in Duchenne?](https://www.actionduchenne.org/faq/how-is-the-dystrophin-gene-altered-in-duchenne/)
- [What are the main types of genetic alterations?](https://www.actionduchenne.org/faq/what-are-the-main-types-of-genetic-alterations/)
## Stories
- [Angela Stringer - being a carrier of Duchenne](https://www.actionduchenne.org/stories/angela-stringer-being-a-carrier-of-duchenne/) - Being a carrier of Duchenne - Angela Stringer When my daughter was born I thought we had the ‘perfect’ family with a boy and a girl. That was a short-lived scenario as six months after my daughter Amy was born we had the devastating news that her brother Jonathan had Duchenne. Simply ‘out of the
- [Dougie's story](https://www.actionduchenne.org/stories/dougies-story/) - Dougie’s story
- [Turning Point – a Mum’s Perspective](https://www.actionduchenne.org/stories/turning-point-a-mums-perspective/) - Lizzie Deeble, Action Duchenne Project Assistant and Duchenne Parent, shares the some of the challenges facing her son Sebastian at this stage of his Duchenne journey. There is a time, the time when your child begins to be embarrassed when you kiss them goodbye, when they’ve stopped looking at you like you hung the moon
- [Lizzie Deeble - Family Ambassador](https://www.actionduchenne.org/stories/lizzie-deeble-family-ambassador/) - I also want to meet other DMD parents, knowing that together we can help each other to be strong. I hope that, as well as fundraising, I can find a way to be involved in the incredible work that Action Duchenne are doing to beat this disease. Even if it is only to help another
- [The Wards - Family Ambassadors](https://www.actionduchenne.org/stories/the-wards-family-ambassadors/) - We had such an amazing time. It was incredibly difficult at times, and emotional too. But the best experience I think I've ever had! Zoe Ward (Parent, Ben Nevis) Zoe and Ben have been an amazing part of the Action Duchenne family since their gorgeous son, Dexter was diagnosed with Duchenne. They have taken part in a number of
- [Lizzie Deeble - recently diagnosed parent story](https://www.actionduchenne.org/stories/lizzie-deeble-recently-diagnosed-parent-story/) - It is hard to describe the impact of Sebastian's diagnosis, not just for my husband James and I but for our friends and family and all who love us. However, we are gradually picking up the pieces of our world and putting it together again. It will always look different than it did, but we
- [Lynnette Ellison - parent story](https://www.actionduchenne.org/stories/lynnette-ellison-newly-diagnosed-parent-story/) - Lynnette's son, Samson was diagnosed with Duchenne in October 2015 at the age of 5. Hear from Lynnette and the hope she has for the future. "In October 2015 our lives changed forever. Our son, Samson (3) was diagnosed with Duchenne muscular dystrophy. We died that day. But then, when we thought we could not
- [Manjula Gohil - parent story](https://www.actionduchenne.org/stories/manjula-gohil-parent-story/) - Manjula Gohil, mother of the wonderful Vivek, gave us an insight into her life and Duchenne muscular dystrophy. Other articles Vivek Gohil interviewHelp and support for adults living with DuchenneEveryone is welcom at the Action Duchenne International Conference
- [Benjamin James - Personal Story](https://www.actionduchenne.org/stories/benjamin-james-personal-story/) - Benjamin is a 20 year old Student, an Intern at Action Duchenne and still walks despite living with Duchenne muscular dystrophy. Watch Benjamin's interview where he speaks about his life and the things he does to keep active "As an individual with Duchenne, I have been an active member of the Action Duchenne community for
- [14 year old sibling features in FirstNews](https://www.actionduchenne.org/stories/ellie-howell/) - Ellie and Hayden Howell have appeared on a full page spread in this Morning's First News (children's newspaper). The feature is to raise awareness of Jeans for Genes day this September. Presentation at the AD Conference The full page feature is the result of a presentation Ellie gave at the Action Duchenne International Conference last year. This
- [Vivek Gohil, campaigner, gamer and consultant](https://www.actionduchenne.org/stories/vivek-gohil-campaigner-gamer-and-consultant/) - Vivek Gohil campaigns for better access for disabled people, spreads awareness of the possibilities available to young people with Duchenne muscular dystrophy and is a mine of knowledge about tech. The 29 year old, who lives with Duchenne muscular dystrophy, is a blogger and an Accessible Gaming Consultant. He has worked with Microsoft to test
- [Wingwalk](https://www.actionduchenne.org/stories/wingwalk/) - On Father's Day, the wonderful Nicole Greenfield-Smith, serial thrill seeker and awesome Auntie to the lovely Samson, absolutely smashed the wingwalk. Thank you Nicole for your amazing fundraising! Could you see yourself strapped to the wings of a biplane flying like a bird? Then look no further - we have places for YOU. Enquire about
- [Vivek Gohil - young person living with Duchenne](https://www.actionduchenne.org/stories/vivek-gohil-young-person-living-with-duchenne/) - Watch Vivek Gohil chat to Peter Duffy at our International Conference 2017. Vivek is a co-editor with Peter on the media and campaigns channel Muscle Owl.
- [Michelle Wilkinson - personal story](https://www.actionduchenne.org/stories/michelle-wilkinson-personal-story/) - Rob and Nisha Laid talk about their son, Alex and their experiences over the past few years since diagnosis.
- [Rob and Nisha Laid - junior parents' story](https://www.actionduchenne.org/stories/rob-and-nisha-laid-junior-parents-story/) - Rob and Nisha Laid talk about their son, Alex and their experiences over the past few years since diagnosis.
- [Jo Eames - recently diagnosed parent story](https://www.actionduchenne.org/stories/jo-eames-recently-diagnosed-parent-story/) - Jo Eames speaks about her son William and their journey since diagnosis.
- [Adam - Taekwondo Champ!](https://www.actionduchenne.org/stories/adam-taekwondo-champ/) - Adam aged 11 from Sutton Poyntz has achieved his Black Belt in Taekwondo, which, is no mean feat especially as he is living with Duchenne muscular dystrophy and is predominately in a wheel chair. Proud parents Mary & Malcolm believe that he may be the only person in the country to have achieved this. Taekwondo is
- [Linda Smith - Grandparent story](https://www.actionduchenne.org/stories/linda-smith-grandparent-story/) - Our gorgeous grandson, Samson, was diagnosed with Duchenne in 2015 when he was 3. The news was a terrible shock for the whole family but especially for our beautiful daughter, Lynnette, and her husband, Lex. Through thick and thin they're embracing the challenges and although we live a way away we try to support them
- [Mitch Coles - "Living my life the way I want to live it"](https://www.actionduchenne.org/stories/mitch-coles-living-my-life-the-way-i-want-to-live-it/) - Mitch Coles studied Graphic Design at University and now lives with his partner and young daughter. Mitch took part in a session at the Action Duchenne International Conference 2017 and we are delighted to share his story with you. "Living my life the way I want to live it"
- [The Ebanks - Family Ambassadors](https://www.actionduchenne.org/stories/the-ebanks-family-ambassadors/)
- [Venetia James - parent story](https://www.actionduchenne.org/stories/venetia-james-parent-story/) - Venetia is Mum to Benjamin who is a 20 year old Student and still walks despite living with Duchenne muscular dystrophy. Hear from Venetia as she tells her story. Inspired? Contact usShare your inspiring storyHear from Venetia's son, Benjamin
- [The Greenfield-Smiths - Family Story](https://www.actionduchenne.org/stories/the-greenfield-smiths-family-story/) - I first encountered AD when our lovely little nephew, Samson, was diagnosed with the condition a few years ago. Before that, I had no real understanding of the DMD or the various different strains of muscular dystrophy. Since then, our whole family has worked hard to inform ourselves in order to better understand the implications
- [The Ker-Lindsay's - Family Story](https://www.actionduchenne.org/stories/the-ker-lindsays-family-story/) - Our son, John, was diagnosed with Duchenne Muscular Dystrophy in October 2014, soon after his fourth birthday. John's diagnosis process Almost from the day he was born, we knew that there was something 'wrong'. It was just a sense we had. As he grew, he was always behind on his development. However, we were repeatedly
## Teams
- [Ravi Mehta](https://www.actionduchenne.org/team/ravi-mehta/)
- [Adam Skerritt](https://www.actionduchenne.org/team/adam-skerritt/)
- [Hayley Smith](https://www.actionduchenne.org/team/hayley-smith/)
- [Susie Croft](https://www.actionduchenne.org/team/susie-croft/)
- [Alex Berbank](https://www.actionduchenne.org/team/alex-berbank/)
- [Kelly Molkenthin](https://www.actionduchenne.org/team/kelly-molkenthin/)
- [Katie Endacott](https://www.actionduchenne.org/team/katie-endacott/)
- [Lizzie Cox](https://www.actionduchenne.org/team/lizzie-cox/)
- [Victoria Edwards](https://www.actionduchenne.org/team/victoria-edwards/)
- [Mehreen Arif](https://www.actionduchenne.org/team/10918/)
- [John Marrin](https://www.actionduchenne.org/team/15054/)
- [Francesca Greaves](https://www.actionduchenne.org/team/francesca-greaves/)
- [Jonny Gould - Patron](https://www.actionduchenne.org/team/johnny-gould-patron/)
- [Anna Mabile](https://www.actionduchenne.org/team/anna-mabile/)
- [Greg Hill](https://www.actionduchenne.org/team/16974/)
- [Roger Cockerton](https://www.actionduchenne.org/team/roger-cockerton/)
- [Emma Simmonds](https://www.actionduchenne.org/team/16395/)
- [Vicky Pleydell](https://www.actionduchenne.org/team/16976/)
- [Marion Main](https://www.actionduchenne.org/team/marion-main/)
- [Louise Straw](https://www.actionduchenne.org/team/louise-straw/)
- [John Miller - Advocate and Supporter](https://www.actionduchenne.org/team/john-miller/)
- [Mark Silverman](https://www.actionduchenne.org/team/mark-silverman/)
- [Gary Fegan](https://www.actionduchenne.org/team/gary-fegan/)
- [Angela Stringer](https://www.actionduchenne.org/team/angela-stringer/)
- [Helena Bonham Carter - Patron](https://www.actionduchenne.org/team/helena-bonham-carter-patron/)
- [Harry Hill - Patron](https://www.actionduchenne.org/team/harry-hill-patron/)
- [Richard Muncaster](https://www.actionduchenne.org/team/richard-muncaster/)
- [Yvonne Ubiaro](https://www.actionduchenne.org/team/yvonne-ubiaro/)
- [Dawn Caplin](https://www.actionduchenne.org/team/dawn-caplin/)
- [Sofiya Got](https://www.actionduchenne.org/team/sofiya-got/)
- [Dawn Craig](https://www.actionduchenne.org/team/dawn-craig/)
- [Jess Breeze](https://www.actionduchenne.org/team/jess-breeze/)
- [Sadia Hussain](https://www.actionduchenne.org/team/sadia-hussain/)
- [Victoria Penrice](https://www.actionduchenne.org/team/victoria-penrice/)
- [Simon Dadd](https://www.actionduchenne.org/team/simon-dadd/)
- [Jo McCauley](https://www.actionduchenne.org/team/jo-mccauley/)
- [Tina Flatau](https://www.actionduchenne.org/team/tina-flatau/)
## Products
- [Duchenne A&E pack Online](https://www.actionduchenne.org/product/free-duchenne-ae-pack-online/) - The aim of this site is to enable A&E staff to access information immediately relevant to Duchenne Muscular Dystrophy. In order to provide the most up to date clinical information to A&E staff, patients and their carers must make sure their records are updated following each and every visit to the clinic. It is essential that clinicians understand the specific needs of persons with Duchenne when formulating a response to an A&E admission. Most people with Duchenne never need to go to an A&E, however this content has been produced to assist parents if their child with Duchenne is unwell and needs to attend hospital. Advice including recent lung function and heart checks are extremely useful for doctors.
- [PTC Stretching cards and sticker book](https://www.actionduchenne.org/product/free-ptc-stretching-cards/) - *Currently not available* PTC Therapeutics have created two FREE resources which we are pleased to share with you. The stretching cards help make daily physio more fun for children and the interactive sticker book tells a story of Jon and the Galaxy Defenders, helping adults explain Duchenne in simple, child-friendly language. Samson loved reading about
- [PTC postural management and stretches for adults](https://www.actionduchenne.org/product/free-download-ptc-postural-management-and-stretches-for-adults/) - Postural management and stretches Looking after your muscles and joints is an important part of staying healthy, along with taking care of your bones, breathing, heart and nutrition. Maintaining good posture while sitting and sleeping, along with daily passive/passive-assisted movements and stretches can help to keep your joints healthy and minimise joint pain, helping you
## Events
- [Webinar Series 2026: Duchenne and the Brain](https://www.actionduchenne.org/mc-events/webinar-series-2026-duchenne-and-the-brain/) - This Mental Health Awareness Month, we’re looking beyond the muscles to understand how dystrophin shapes cognition, behaviour and neurodiversity. Professor Francesco Muntoni will join us to explore the often-overlooked neurological side of Duchenne. From dystrophin’s role in the brain to the latest findings from the BIND2 study, this session unpacks what specific dystrophin isoforms mean
- [Webinar Series 2026: Movement that Works: Physiotherapy, Sports and Duchenne](https://www.actionduchenne.org/mc-events/webinar-series-2026-movement-that-works-physiotherapy-sports-and-duchenne/) - In honour of International Day of Sports for Development and Peace (held on 6th April), we’re putting movement at the heart of Duchenne – because the right exercise can make all the difference. We’ll be joined by expert physiotherapist and regular conference speaker Marion Main. This webinar explores what exercise really means for people living
- [Webinar Series 2026: Neurodiversity, Learning Difference and Duchenne](https://www.actionduchenne.org/mc-events/webinar-series-2026-neurodiversity-learning-difference-and-duchenne/) - To mark Neurodiversity Celebration Week which runs from 16th – 22nd March 2026, our next webinar will take place on Monday 30th of March and will focus on reframing behaviour through understanding, not judgement. Behaviour is communication, let’s learn how Duchenne shapes it. We are excited to announce that we’ll be joined by Dr James
- [Parent/Carers In-Person Meet-Up: London](https://www.actionduchenne.org/mc-events/parent-carers-in-person-meet-up-london/) - Where: Serpentine Bar and Kitchen, Hyde Park, Serpentine Rd, London W2 2UH Who: Duchenne parents and carers When: Tuesday 28th April, 10:30am – 2:00pm What: Meet up with Alex Berbank, your Regional Outreach Support Officer and other Duchenne parents and carers for a tea or coffee, a walk and a chat. A chance to meet others
- [Parent/Carers In-Person Meet-Up: Leeds](https://www.actionduchenne.org/mc-events/parent-carers-in-person-meet-up-leeds/) - Where: Holiday Inn Express, Leeds City Centre, Kirkstall Road, LS3 1LY Who: Duchenne parents and carers When: Thursday 12th March, 10:30am – 2:00pm What: Meet up with Kelly Molkenthin, your Regional Outreach Support Officer and other Duchenne parents and carers for a tea or coffee, a walk and a chat. A chance to meet others in
- [Parent/Carers In-Person Meet-Up: Newcastle](https://www.actionduchenne.org/mc-events/parent-carers-in-person-meet-up-newcastle/) - Where: Holiday Inn Express, Clasper Way, Swalwell, NE16, 3BE Who: Duchenne parents and carers When: Thursday 12th March, 10:00am – 2:00pm What: Meet up with Kelly Molkenthin, your Regional Outreach Support Officer and other Duchenne parents and carers for a tea or coffee, a walk and a chat. A chance to meet others in your area,
- [Residential Weekend for Young People Living with Duchenne](https://www.actionduchenne.org/mc-events/residential-weekend-for-young-people-living-with-duchenne-2/) - Residential Weekend, Calvert Trust Lake District Where: Calvert Lakes, Little Crosthwaite, Keswick CA12 4QD Who: Boys living with Duchenne aged 12-18 plus 2 adult carers When: Friday 31st July – Monday 3rd August What: An activity weekend at the beautiful Calvert Lakes Activity Centre. Set in stunning countryside, this weekend is designed specifically to give boys a chance
- [Time Out - for Mums](https://www.actionduchenne.org/mc-events/time-out-for-mums-7/) - The most common thing we hear from Duchenne mums is the struggle to juggle it all, the pressure to hold it all together and the total lack of any space for themselves. So even if it’s just once a month, we want to create a space just for you. A space to come together with
- [Residential Weekend for Young People Living with Duchenne](https://www.actionduchenne.org/mc-events/residential-weekend-for-young-people-living-with-duchenne/) - Residential Weekend, Calvert Trust Exmoor Where: Calvert Devon, Wistlandpound, Kentisbury, Barnstaple, EX31 4SJ Who: Boys living with Duchenne aged 12-18 plus 2 adult carers When: Friday 22nd May – Monday 25th May What: An activity weekend at the beautiful Calvert Devon Outdoor Activity Centre. Set in stunning countryside, this weekend is designed specifically to give boys a chance to
- [Rare Disease Day](https://www.actionduchenne.org/mc-events/rare-disease-day/) - Join Action Duchenne as we celebrate Rare Disease Day alongside the global rare disease community
- [In-Person Meet Up: Naidex Event, Birmingham NEC](https://www.actionduchenne.org/mc-events/in-person-meet-up-naidex-event-birmingham-nec/) - Where: Birmingham NEC, Pendigo Way, Marston Green, Birmingham, B40 1NT Who: Duchenne families and children When: Wednesday 25th and Thursday 26th March What: Naidex serves as a vital platform for individuals with disabilities, caregivers and industry professionals to connect, share knowledge and explore innovative solutions that enhance quality of life. The event focuses on promoting independence, accessibility and inclusion
- [Webinar Series 2026: Women's Health, Genetics and Decisions](https://www.actionduchenne.org/mc-events/webinar-series-2026-womens-health-genetics-and-decisions/) - We’re celebrating International Women’s Day 2026 with a spotlight on the often overlooked needs of Duchenne carriers. We’re excited to be joined by Uruj Anjum, the founder of Saiyna Therapy, an online psychotherapy practice supporting individuals and couples navigating genetic diagnoses, inherited conditions, loss, and perinatal mental health.
- [Dads Against Duchenne](https://www.actionduchenne.org/mc-events/dads-against-duchenne-21/) - It is a difficult place being a Dad in Duchenne and there isn’t much opportunity to speak with others face to face. I hear that finding time to unwind after a stressful week is gold dust and seems to be shrinking. We need to change that. Making time to relax and unwind is just as
- [Dads Against Duchenne](https://www.actionduchenne.org/mc-events/dads-against-duchenne-20/) - It is a difficult place being a Dad in Duchenne and there isn’t much opportunity to speak with others face to face. I hear that finding time to unwind after a stressful week is gold dust and seems to be shrinking. We need to change that. Making time to relax and unwind is just as
- [Dads Against Duchenne](https://www.actionduchenne.org/mc-events/dads-against-duchenne-19/) - It is a difficult place being a Dad in Duchenne and there isn’t much opportunity to speak with others face to face. I hear that finding time to unwind after a stressful week is gold dust and seems to be shrinking. We need to change that. Making time to relax and unwind is just as
- [Dads Against Duchenne](https://www.actionduchenne.org/mc-events/dads-against-duchenne-18/) - It is a difficult place being a Dad in Duchenne and there isn’t much opportunity to speak with others face to face. I hear that finding time to unwind after a stressful week is gold dust and seems to be shrinking. We need to change that. Making time to relax and unwind is just as
- [Dads Against Duchenne](https://www.actionduchenne.org/mc-events/dads-against-duchenne-17/) - It is a difficult place being a Dad in Duchenne and there isn’t much opportunity to speak with others face to face. I hear that finding time to unwind after a stressful week is gold dust and seems to be shrinking. We need to change that. Making time to relax and unwind is just as
- [Dads Against Duchenne](https://www.actionduchenne.org/mc-events/dads-against-duchenne-16/) - It is a difficult place being a Dad in Duchenne and there isn’t much opportunity to speak with others face to face. I hear that finding time to unwind after a stressful week is gold dust and seems to be shrinking. We need to change that. Making time to relax and unwind is just as
- [Dads Against Duchenne](https://www.actionduchenne.org/mc-events/dads-against-duchenne-15/) - It is a difficult place being a Dad in Duchenne and there isn’t much opportunity to speak with others face to face. I hear that finding time to unwind after a stressful week is gold dust and seems to be shrinking. We need to change that. Making time to relax and unwind is just as
- [Dads Against Duchenne](https://www.actionduchenne.org/mc-events/dads-against-duchenne-14/) - It is a difficult place being a Dad in Duchenne and there isn’t much opportunity to speak with others face to face. I hear that finding time to unwind after a stressful week is gold dust and seems to be shrinking. We need to change that. Making time to relax and unwind is just as
- [Dads Against Duchenne](https://www.actionduchenne.org/mc-events/dads-against-duchenne-13/) - It is a difficult place being a Dad in Duchenne and there isn’t much opportunity to speak with others face to face. I hear that finding time to unwind after a stressful week is gold dust and seems to be shrinking. We need to change that. Making time to relax and unwind is just as
- [Dads Against Duchenne](https://www.actionduchenne.org/mc-events/dads-against-duchenne-12/) - It is a difficult place being a Dad in Duchenne and there isn’t much opportunity to speak with others face to face. I hear that finding time to unwind after a stressful week is gold dust and seems to be shrinking. We need to change that. Making time to relax and unwind is just as
- [Dads Against Duchenne](https://www.actionduchenne.org/mc-events/dads-against-duchenne-11/) - It is a difficult place being a Dad in Duchenne and there isn’t much opportunity to speak with others face to face. I hear that finding time to unwind after a stressful week is gold dust and seems to be shrinking. We need to change that. Making time to relax and unwind is just as
- [Grandparents Together](https://www.actionduchenne.org/mc-events/grandparents-together-7/) - Grandparents Group - 1st Friday of the month, 10-11am Many of the grandparents we speak to feel that their role following a Duchenne diagnosis is one of support for their children and grandchildren. But when you aren’t at the clinic appointments and you don’t know who to ask about this overwhelmingly complex condition, it can
- [Grandparents Together](https://www.actionduchenne.org/mc-events/grandparents-together-6/) - Grandparents Group - 1st Friday of the month, 10-11am Many of the grandparents we speak to feel that their role following a Duchenne diagnosis is one of support for their children and grandchildren. But when you aren’t at the clinic appointments and you don’t know who to ask about this overwhelmingly complex condition, it can
- [Time Out - for Mums](https://www.actionduchenne.org/mc-events/time-out-for-mums-6/) - The most common thing we hear from Duchenne mums is the struggle to juggle it all, the pressure to hold it all together and the total lack of any space for themselves. So even if it’s just once a month, we want to create a space just for you. A space to come together with
- [Christmas Bauble Decorating](https://www.actionduchenne.org/mc-events/christmas-bauble-decorating/) - For anyone aged 5 - 11 and living with Duchenne and their siblings. We will be decorating baubles together, listening to Christmas tunes and chatting all things festive. Come and join Kelly with a mince pie or a chocolate coin (or two) and have an hour of crafting and fun!
- [Family Christmas Quiz](https://www.actionduchenne.org/mc-events/family-christmas-quiz/) - A quiz the whole family can enjoy. You’ll need the brains and minds of all the family to help you tackle Action Duchenne’s tricky Quiz. Hosted on zoom by the quizmaster Alex we invite you put your knowledge and skills to the test!
- [Grandparents Together](https://www.actionduchenne.org/mc-events/grandparents-together-5/) - Grandparents Group - 1st Friday of the month, 10-11am Many of the grandparents we speak to feel that their role following a Duchenne diagnosis is one of support for their children and grandchildren. But when you aren’t at the clinic appointments and you don’t know who to ask about this overwhelmingly complex condition, it can
- [Time Out - for Mums](https://www.actionduchenne.org/mc-events/time-out-for-mums-5/) - The most common thing we hear from Duchenne mums is the struggle to juggle it all, the pressure to hold it all together and the total lack of any space for themselves. So even if it’s just once a month, we want to create a space just for you. A space to come together with
- [Dads Against Duchenne](https://www.actionduchenne.org/mc-events/dads-against-duchenne-10/) - It is a difficult place being a Dad in Duchenne and there isn’t much opportunity to speak with others face to face. I hear that finding time to unwind after a stressful week is gold dust and seems to be shrinking. We need to change that. Making time to relax and unwind is just as
- [Webinar Series 2025: EHCP - Working with the Local Authority](https://www.actionduchenne.org/mc-events/webinar-series-2025-ehcp-working-with-the-local-authority/) - We will be joined by Emma Simmonds and Maria Sherwood from Treloar's School and College who will share their expertise on navigating the complex EHCP process, as well as working alongside the Local Authority to ensure that your child's needs are met.
- [Webinar Series 2025: ‘More than Just a Physical Condition’](https://www.actionduchenne.org/mc-events/webinar-series-2025-more-than-just-a-physical-condition/) - 'More than just a Physical Condition - – recognising the educational and emotional needs of children and young adults with Duchenne muscular dystrophy'. Janet Hoskin and Benjamin James will join us to talk about this important paper, sharing insights into the often misunderstood and underestimated challenges of supporting children and young people with Duchenne in
- [Turning Point for young people aged 8 - 14](https://www.actionduchenne.org/mc-events/turning-point-for-young-people-aged-8-14-2/) - Online Group for young people aged 8 - 14 and living with Duchenne. Register to join us: https://bit.ly/3SJqoz4
- [Scotland Activity Day](https://www.actionduchenne.org/mc-events/scotland-activity-day/) - Are you aged 12 and over, living with Duchenne and live in Scotland? Join Action Duchenne in Scotland this Summer for an accessible activity day at the National Sports Training Centre in Inverclyde.
- [Annual International Conference](https://www.actionduchenne.org/mc-events/annual-international-conference-2/) - Action Duchenne Annual International Conference 2025
- [World Duchenne Awareness Day](https://www.actionduchenne.org/mc-events/world-duchenne-awareness-day-2/)
- [Webinar Series 2025 - The Possibilities of Gaming – Child/Young Person Focus with MindJam](https://www.actionduchenne.org/mc-events/webinar-series-2025-the-possibilities-of-gaming-child-young-person-focus-with-mindjam/) - This webinar is for children and young people to explore the many possibilities and opportunities for the future that can come from gaming.
- [Webinar Series 2025: The Benefits of Gaming – Parent/Carer Focus with MindJam](https://www.actionduchenne.org/mc-events/webinar-series-2025-the-benefits-of-gaming-parent-carer-focus-with-mindjam/) - Gaming is often seen in a negative way, but MindJam are here to turn that on its head. They will share their expertise on the positive impact gaming can have for your child, and how you can help them to use gaming in developing their skills.
- [Parallel Windsor - Festival of Inclusitivity](https://www.actionduchenne.org/mc-events/parallel-windsor-festival-of-inclusitivity/) - Parallel Windsor is a Festival of Inclusivity with Challenge Events for all ages, health conditions & abilities. Held in the grounds of the majestic Windsor Great Park & staged on the iconic Long Walk.
- [Turning Point for young people aged 8 - 14](https://www.actionduchenne.org/mc-events/turning-point-for-young-people-aged-8-14/) - Online Group for young people aged 8 - 14 and living with Duchenne. Register to join us: https://bit.ly/3SJqoz4
- [Webinar Series 2025 - Weight Management with Dr Jarod Wong](https://www.actionduchenne.org/mc-events/webinar-series-2025-weight-management-with-dr-jarod-wong/) - Dr Jarod Wong will deliver a second webinar looking at how to manage weight gain as part of the impact steroids often have.
- [Yes I Can Residential Weekend](https://www.actionduchenne.org/mc-events/yes-i-can-residential-weekend/) - Taking place from Friday 22nd to Monday 25th August at the Calvert Trust in Exmoor, the weekend is open to anyone aged 16-25 living with Duchenne who has NOT taken part in a residential with Action Duchenne before. For the young person and up to 2 carers, the weekend includes 3 nights in the accessible
- [Grandparents Together](https://www.actionduchenne.org/mc-events/grandparents-together-4/) - Grandparents Group - 1st Friday of the month, 10-11am Many of the grandparents we speak to feel that their role following a Duchenne diagnosis is one of support for their children and grandchildren. But when you aren’t at the clinic appointments and you don’t know who to ask about this overwhelmingly complex condition, it can
- [Grandparents Together](https://www.actionduchenne.org/mc-events/grandparents-together-3/) - Grandparents Group - 1st Friday of the month, 10-11am Many of the grandparents we speak to feel that their role following a Duchenne diagnosis is one of support for their children and grandchildren. But when you aren’t at the clinic appointments and you don’t know who to ask about this overwhelmingly complex condition, it can
- [Grandparents Together](https://www.actionduchenne.org/mc-events/grandparents-together-2/) - Grandparents Group - 1st Friday of the month, 10-11am Many of the grandparents we speak to feel that their role following a Duchenne diagnosis is one of support for their children and grandchildren. But when you aren’t at the clinic appointments and you don’t know who to ask about this overwhelmingly complex condition, it can
- [Time Out - for Mums](https://www.actionduchenne.org/mc-events/time-out-for-mums-4/) - The most common thing we hear from Duchenne mums is the struggle to juggle it all, the pressure to hold it all together and the total lack of any space for themselves. So even if it’s just once a month, we want to create a space just for you. A space to come together with
- [Time Out - for Mums](https://www.actionduchenne.org/mc-events/time-out-for-mums-3/) - The most common thing we hear from Duchenne mums is the struggle to juggle it all, the pressure to hold it all together and the total lack of any space for themselves. So even if it’s just once a month, we want to create a space just for you. A space to come together with
- [Time Out - for Mums](https://www.actionduchenne.org/mc-events/time-out-for-mums-2/) - The most common thing we hear from Duchenne mums is the struggle to juggle it all, the pressure to hold it all together and the total lack of any space for themselves. So even if it’s just once a month, we want to create a space just for you. A space to come together with
- [Dads Against Duchenne](https://www.actionduchenne.org/mc-events/dads-against-duchenne-9/) - It is a difficult place being a Dad in Duchenne and there isn’t much opportunity to speak with others face to face. I hear that finding time to unwind after a stressful week is gold dust and seems to be shrinking. We need to change that. Making time to relax and unwind is just as
- [Dads Against Duchenne](https://www.actionduchenne.org/mc-events/dads-against-duchenne-8/) - It is a difficult place being a Dad in Duchenne and there isn’t much opportunity to speak with others face to face. We're going to be launching a virtual Dad’s night hosted by myself to give Duchenne dads some time and space to just talk to other guys in the same position. I hear
- [Dads Against Duchenne](https://www.actionduchenne.org/mc-events/dads-against-duchenne-7/) - It is a difficult place being a Dad in Duchenne and there isn’t much opportunity to speak with others face to face. We're going to be launching a virtual Dad’s night hosted by myself to give Duchenne dads some time and space to just talk to other guys in the same position. I hear
- [World Duchenne Awareness Day](https://www.actionduchenne.org/mc-events/world-duchenne-awareness-day/)
- [Annual International Conference](https://www.actionduchenne.org/mc-events/annual-international-conference/) - Come together with the Duchenne community at Action Duchenne’s Annual International Conference 2024 Friday 8th – Saturday 9th November 2024 Leonardo Hotel Hinckley Island, Leicestershire, LE10 3JA
- [Yes I Can Online - Transition to Adulthood](https://www.actionduchenne.org/mc-events/yes-i-can-online-transition-to-adulthood-10/) - The ‘Yes I can’ sessions give you the opportunity to meet other young people living with Duchenne, to develop friendships, share experiences and to create a network of support for each other.
- [Yes I Can Online - Transition to Adulthood](https://www.actionduchenne.org/mc-events/yes-i-can-online-transition-to-adulthood-9/) - The ‘Yes I can’ sessions give you the opportunity to meet other young people living with Duchenne, to develop friendships, share experiences and to create a network of support for each other.
- [Yes I Can Online - Transition to Adulthood](https://www.actionduchenne.org/mc-events/yes-i-can-online-transition-to-adulthood-8/) - The ‘Yes I can’ sessions give you the opportunity to meet other young people living with Duchenne, to develop friendships, share experiences and to create a network of support for each other.
- [Yes I Can Online - Transition to Adulthood](https://www.actionduchenne.org/mc-events/yes-i-can-online-transition-to-adulthood-7/) - The ‘Yes I can’ sessions give you the opportunity to meet other young people living with Duchenne, to develop friendships, share experiences and to create a network of support for each other.
- [Yes I Can Online - Transition to Adulthood](https://www.actionduchenne.org/mc-events/yes-i-can-online-transition-to-adulthood-6/) - The ‘Yes I can’ sessions give you the opportunity to meet other young people living with Duchenne, to develop friendships, share experiences and to create a network of support for each other.
- [Yes I Can Online - Transition to Adulthood](https://www.actionduchenne.org/mc-events/yes-i-can-online-transition-to-adulthood-5/) - The ‘Yes I can’ sessions give you the opportunity to meet other young people living with Duchenne, to develop friendships, share experiences and to create a network of support for each other.
- [Yes I Can Online - Transition to Adulthood](https://www.actionduchenne.org/mc-events/yes-i-can-online-transition-to-adulthood-4/) - The ‘Yes I can’ sessions give you the opportunity to meet other young people living with Duchenne, to develop friendships, share experiences and to create a network of support for each other.
- [Yes I Can Online - Transition to Adulthood](https://www.actionduchenne.org/mc-events/yes-i-can-online-transition-to-adulthood-3/) - The ‘Yes I can’ sessions give you the opportunity to meet other young people living with Duchenne, to develop friendships, share experiences and to create a network of support for each other.
- [Yes I Can Online - Transition to Adulthood](https://www.actionduchenne.org/mc-events/yes-i-can-online-transition-to-adulthood-2/) - The ‘Yes I can’ sessions give you the opportunity to meet other young people living with Duchenne, to develop friendships, share experiences and to create a network of support for each other.
- [Yes I Can Online - Transition to Adulthood](https://www.actionduchenne.org/mc-events/yes-i-can-online-transition-to-adulthood/) - The ‘Yes I can’ sessions give you the opportunity to meet other young people living with Duchenne, to develop friendships, share experiences and to create a network of support for each other.
- [Webinar: Andrea Weldon](https://www.actionduchenne.org/mc-events/webinar-andrea-weldon/) - Join us and author of 'More than the Mirror' Andrea Weldon tomorrow evening as we discuss talking to your child about body image and self esteem. Her book takes you on a journey of self discovery that encourages children to accept their bodies, thoughts and emotions.
- [Webinar: Dr Vasantha Gowda](https://www.actionduchenne.org/mc-events/webinar-dr-vasantha-gowda/) - Our next webinar will take place on Saturday 11th May at 5pm when we will be joined by Dr Vasantha Gowda from Evelina Children's Hospital. She'll be talking through what happens with Duchenne and emergencies; what to do and what to look out for. Come along to feel empowered and to gain the confidence to
- [Grandparents Together](https://www.actionduchenne.org/mc-events/grandparents-together/) - Grandparents Group - 1st Friday of the month, 10-11am Many of the grandparents we speak to feel that their role following a Duchenne diagnosis is one of support for their children and grandchildren. But when you aren’t at the clinic appointments and you don’t know who to ask about this overwhelmingly complex condition, it can
- [Time Out - for Mums](https://www.actionduchenne.org/mc-events/time-out-for-mums/) - The most common thing we hear from Duchenne mums is the struggle to juggle it all, the pressure to hold it all together and the total lack of any space for themselves. So even if it’s just once a month, we want to create a space just for you. A space to come together with
- [Open Space](https://www.actionduchenne.org/mc-events/open-space/) - Open Space - 1st Wednesday of every month, 8-9pm We know that Duchenne impacts everyone, not just the immediate family. It can be tough for those who love someone with Duchenne to know how and where to go to understand more about Duchenne, to know how to help their loved ones or to access support.
- [Yes I Can Online](https://www.actionduchenne.org/mc-events/yes-i-can-online-3/) - Online sessions for 14 - 25 year olds living with Duchenne
- [Turning Point - HangOut for 8 - 14 Year olds](https://www.actionduchenne.org/mc-events/turning-point-hangout-for-8-14-year-olds-5/) - Are you aged 8 - 14 and living with Duchenne? Join our Turning Point online session for a chance to meet others, play some games and get to know each other.
- [Turning Point - HangOut for 8 - 14 Year olds](https://www.actionduchenne.org/mc-events/turning-point-hangout-for-8-14-year-olds-4/) - Are you aged 8 - 14 and living with Duchenne? Join our Turning Point online session for a chance to meet others, play some games and get to know each other.
- [Turning Point - HangOut for 8 - 14 Year olds](https://www.actionduchenne.org/mc-events/turning-point-hangout-for-8-14-year-olds-3/) - Are you aged 8 - 14 and living with Duchenne? Join our Turning Point online session for a chance to meet others, play some games and get to know each other.
- [Turning Point - HangOut for 8 - 14 Year olds](https://www.actionduchenne.org/mc-events/turning-point-hangout-for-8-14-year-olds-2/) - Are you aged 8 - 14 and living with Duchenne? Join our Turning Point online session for a chance to meet others, play some games and get to know each other.
- [Yes I Can Online](https://www.actionduchenne.org/mc-events/yes-i-can-online-8/) - Online session for 14 - 25 year olds living with Duchenne.
- [Yes I Can Online](https://www.actionduchenne.org/mc-events/yes-i-can-online-7/) - Online session for 14 - 25 year olds living with Duchenne.
- [Yes I Can Online](https://www.actionduchenne.org/mc-events/yes-i-can-online-6/) - Online session for 14 - 25 year olds living with Duchenne.
- [Yes I Can Online](https://www.actionduchenne.org/mc-events/yes-i-can-online-5/) - Online session for 14 - 25 year olds living with Duchenne.
- [Yes I Can Online](https://www.actionduchenne.org/mc-events/yes-i-can-online-4/) - Online session for 14 - 25 year olds living with Duchenne.
- [Dads Against Duchenne](https://www.actionduchenne.org/mc-events/dads-against-duchenne-6/) - It is a difficult place being a Dad in Duchenne and there isn’t much opportunity to speak with others face to face. We're going to be launching a virtual Dad’s night hosted by myself to give Duchenne dads some time and space to just talk to other guys in the same position. I hear
- [Dads Against Duchenne](https://www.actionduchenne.org/mc-events/dads-against-duchenne-5/) - It is a difficult place being a Dad in Duchenne and there isn’t much opportunity to speak with others face to face. We're going to be launching a virtual Dad’s night hosted by myself to give Duchenne dads some time and space to just talk to other guys in the same position. I hear
- [Dads Against Duchenne](https://www.actionduchenne.org/mc-events/dads-against-duchenne-4/) - It is a difficult place being a Dad in Duchenne and there isn’t much opportunity to speak with others face to face. We're going to be launching a virtual Dad’s night hosted by myself to give Duchenne dads some time and space to just talk to other guys in the same position. I hear
- [Dads Against Duchenne](https://www.actionduchenne.org/mc-events/dads-against-duchenne-3/) - It is a difficult place being a Dad in Duchenne and there isn’t much opportunity to speak with others face to face. We're going to be launching a virtual Dad’s night hosted by myself to give Duchenne dads some time and space to just talk to other guys in the same position. I hear
- [Dads Against Duchenne](https://www.actionduchenne.org/mc-events/dads-against-duchenne-2/) - It is a difficult place being a Dad in Duchenne and there isn’t much opportunity to speak with others face to face. We're going to be launching a virtual Dad’s night hosted by myself to give Duchenne dads some time and space to just talk to other guys in the same position. I hear
- [Dads Against Duchenne](https://www.actionduchenne.org/mc-events/dads-against-duchenne/) - It is a difficult place being a Dad in Duchenne and there isn’t much opportunity to speak with others face to face. We're going to be launching a virtual Dad’s night hosted by myself to give Duchenne dads some time and space to just talk to other guys in the same position. I hear
- [Winter Webinar - Learning and Behaviour with James Poysky](https://www.actionduchenne.org/mc-events/winter-webinar-learning-and-behaviour-with-james-poysky/) - A regular and always popular speaker at our International Conference, James Poysky is a clinical psychologist and pediatric neuropsychologist. He is an internationally recognized expert in the impact that Duchenne muscular dystrophy can have on learning, behaviour, and emotional adjustment.
- [Turning Point - HangOut for 8 - 14 Year olds](https://www.actionduchenne.org/mc-events/turning-point-hangout-for-8-14-year-olds/) - Are you aged 8 - 14 and living with Duchenne? Join our Turning Point online session for a chance to meet others, play some games and get to know each other.
- [Winter Webinar - Physiotherapy with Marion Main](https://www.actionduchenne.org/mc-events/winter-webinar-physiotherapy-with-marion-main/) - As part of our Science Education programme, we are running a series of Winter Webinars with some of your favourite Duchenne experts! We are delighted to announce that we will be welcoming renowned physiotherapist and Duchenne expert Marion Main to our webinar series.
- [Yes I Can Online](https://www.actionduchenne.org/mc-events/yes-i-can-online-2/) - Online sessions for 14 - 25 year olds living with Duchenne
- [Yes I Can Online](https://www.actionduchenne.org/mc-events/yes-i-can-online/) - Online session for 14 - 25 year olds living with Duchenne.
- [Neurodiversity Webinar - Kirsten Jack](https://www.actionduchenne.org/mc-events/neurodiversity-webinar-kirsten-jack/) - Kirsten will introduce the concepts of neurodiversity, how neurodivergent (autism and ADHD) young people think differently, and how this can present as 'spiky profiles', where young people can be exceptionally adept in some skill areas, but still struggle day to day with things that their peers find easy. - She will provide a short guide
- [Challenging Behaviour Webinar](https://www.actionduchenne.org/mc-events/challenging-behaviour-webinar/) - This virtual workshop gives parents and carers the opportunity to hear other parents' experiences, learn new strategies and share as much or as little of your story as you wish. The workshop will explore some of the issues around behaviour and will look at ways of supporting and encouraging your child. Participants will gain a
- [Demo: Florence Price: Symphony No. 3 in c minor](https://www.actionduchenne.org/mc-events/demo-florence-price-symphony-no-3-in-c-minor/) - Florence Price's Symphony No. 3 was commissioned by the Works Progress Administration's Federal Music Project during the height of the Great Depression. It was first performed at the Detroit Institute of Arts on November 6, 1940, by the Detroit Civic Orchestra under the conductor Valter Poole.The composition is Price's third symphony, following her Symphony in
## Locations
- [Serpentine Bar and Kitchen](https://www.actionduchenne.org/mc-locations/serpentine-bar-and-kitchen/)
- [Holiday Inn Express](https://www.actionduchenne.org/mc-locations/holiday-inn-express-2/)
- [Holiday Inn Express](https://www.actionduchenne.org/mc-locations/holiday-inn-express/)
- [Demo: Minnesota Orchestra](https://www.actionduchenne.org/mc-locations/demo-minnesota-orchestra/)
## Categories
- [Conference](https://www.actionduchenne.org/category/conference/)
- [News](https://www.actionduchenne.org/category/news/)
- [Hear From Our Community](https://www.actionduchenne.org/category/blogs/)
- [Gene therapy](https://www.actionduchenne.org/category/news/gene-therapy-news/) - This is the latest news about gene therapy development for Duchenne muscular dystrophy. There’s also lots of information and videos explaining these potential treatments in our information pages.
- [Exon skipping news](https://www.actionduchenne.org/category/news/exon-skipping-news/) - This is the latest news about the development and use of exon skipping in Duchenne muscular dystrophy. There’s also lots of information and videos explaining these potential treatments in our information pages.
- [Gene editing](https://www.actionduchenne.org/category/news/gene-editing-news/)
- [Steroid replacements](https://www.actionduchenne.org/category/news/steroid-replacement-news/)
- [Translarna](https://www.actionduchenne.org/category/news/translarna-news/) - This is the latest news about the development and use of Translarna for Duchenne muscular dystrophy. Translarna can treat approximately 10-15% of case of Duchenne – those that are caused by a nonsense mutation. There’s also lots of information and videos explaining these potential treatments in our information pages.
- [Inflammation](https://www.actionduchenne.org/category/news/inflammation/)
- [other approaches](https://www.actionduchenne.org/category/news/other-approaches/)
- [Steroids](https://www.actionduchenne.org/category/news/steroids/)
- [Webinar Recordings](https://www.actionduchenne.org/category/webinars/)
- [Physio](https://www.actionduchenne.org/category/webinars/physio/)
- [Fundraisers](https://www.actionduchenne.org/category/blogs/fundraisers/)
- [Bookable sessions](https://www.actionduchenne.org/category/conference/bookable-sessions/)
- [Our impact](https://www.actionduchenne.org/category/our-impact/)
- [All through support](https://www.actionduchenne.org/category/news/all-through-support/)
- [Florence's blogs](https://www.actionduchenne.org/category/blogs/florences-blogs/)
- [What is new in Duchenne research?](https://www.actionduchenne.org/category/what-is-new-in-duchenne-research/) - Watch the session recordings from our Annual Conference 2022. In this section, you can browse the recordings from the session “What is new in Duchenne Research?”
- [The Duchenne Journey](https://www.actionduchenne.org/category/the-duchenne-journey/) - Watch the session recordings from our Annual Conference 2022. In this section, you can browse the recordings from the session “The Duchenne Journey”
- [Adults with Duchenne](https://www.actionduchenne.org/category/adults-with-duchenne/) - Watch the session recordings from our Annual Conference 2022. In this section, you can browse the recordings from the session “Adults with Duchenne”
- [Growing up with Duchenne](https://www.actionduchenne.org/category/growing-up-with-duchenne/) - Watch the session recordings from our Annual Conference 2022. In this section, you can browse the recordings from the session “Growing up with Duchenne”
- [Science Live 2023](https://www.actionduchenne.org/category/webinars/science-live-2023/)
- [Winter Webinars 2024](https://www.actionduchenne.org/category/winter-webinars-2024/)
## Tags
- [untagged](https://www.actionduchenne.org/tag/untagged/)
- [gene therapy](https://www.actionduchenne.org/tag/gene-therapy/)
- [physiotherapy](https://www.actionduchenne.org/tag/physiotherapy/)
- [corporate](https://www.actionduchenne.org/tag/corporate/)
- [teenagers](https://www.actionduchenne.org/tag/teenagers/)
- [campaign](https://www.actionduchenne.org/tag/campaign/)
- [Catabasis](https://www.actionduchenne.org/tag/catabasis/)
- [fundraising](https://www.actionduchenne.org/tag/fundraising/)
- [standards of care](https://www.actionduchenne.org/tag/standards-of-care/)
- [Santhera](https://www.actionduchenne.org/tag/santhera/)
- [Mallinckrodt](https://www.actionduchenne.org/tag/mallinckrodt/)
- [Biophytis](https://www.actionduchenne.org/tag/biophytis/)
- [research](https://www.actionduchenne.org/tag/research/)
- [mental health](https://www.actionduchenne.org/tag/mental-health/)
- [golf](https://www.actionduchenne.org/tag/golf/)
- [adults](https://www.actionduchenne.org/tag/adults/)
- [ambassadors](https://www.actionduchenne.org/tag/ambassadors/)
- [Pfizer](https://www.actionduchenne.org/tag/pfizer/)
- [utrophin](https://www.actionduchenne.org/tag/utrophin/)
- [Solid](https://www.actionduchenne.org/tag/solid/)
- [zipline](https://www.actionduchenne.org/tag/zipline/)
- [Translarna](https://www.actionduchenne.org/tag/translarna/)
- [treatment](https://www.actionduchenne.org/tag/treatment/)
- [families](https://www.actionduchenne.org/tag/families/)
- [steroids](https://www.actionduchenne.org/tag/steroids/)
- [Wave](https://www.actionduchenne.org/tag/wave/)
- [Becker](https://www.actionduchenne.org/tag/becker/)
- [Sibling](https://www.actionduchenne.org/tag/sibling-2/)
- [conference](https://www.actionduchenne.org/tag/conference/)
- [skydive](https://www.actionduchenne.org/tag/skydive/)
- [dads](https://www.actionduchenne.org/tag/dads/)
- [education](https://www.actionduchenne.org/tag/education/)
- [meeting](https://www.actionduchenne.org/tag/meeting/)
- [exon skipping](https://www.actionduchenne.org/tag/exon-skipping/)
- [Reveragen](https://www.actionduchenne.org/tag/reveragen/)
- [Sarepta](https://www.actionduchenne.org/tag/sarepta/)
- [research project](https://www.actionduchenne.org/tag/research-project/)
- [access to medicine](https://www.actionduchenne.org/tag/access-to-medicine/)
- [wheelchair](https://www.actionduchenne.org/tag/wheelchair/)
- [Raxone](https://www.actionduchenne.org/tag/raxone/)
- [PTC](https://www.actionduchenne.org/tag/ptc/)
- [clinical trial](https://www.actionduchenne.org/tag/clinical_trial/)
- [support](https://www.actionduchenne.org/tag/support/)
- [parents](https://www.actionduchenne.org/tag/parents/)
- [Action Duchenne](https://www.actionduchenne.org/tag/action-duchenne/)
- [psychology](https://www.actionduchenne.org/tag/psychology/)
- [school](https://www.actionduchenne.org/tag/school/)
- [steroid replacements](https://www.actionduchenne.org/tag/steroid-replacements/)
- [gene editing](https://www.actionduchenne.org/tag/gene-editing/)
- [newly diagnosed](https://www.actionduchenne.org/tag/newly-diagnosed/)
- [researchers](https://www.actionduchenne.org/tag/researchers/)
- [health professional](https://www.actionduchenne.org/tag/health-professional/)
- [charity of the year](https://www.actionduchenne.org/tag/charity-of-the-year/)
- [community](https://www.actionduchenne.org/tag/community/)
- [Harry Hill](https://www.actionduchenne.org/tag/harry-hill/)
- [patrons](https://www.actionduchenne.org/tag/patrons/)
- [Martin Bashir](https://www.actionduchenne.org/tag/martin-bashir/)
- [Jonny Gould](https://www.actionduchenne.org/tag/jonny-gould/)
- [Vamorolone](https://www.actionduchenne.org/tag/vamorolone/)
- [Parliament](https://www.actionduchenne.org/tag/parliament/)
- [Suvodirsen](https://www.actionduchenne.org/tag/sucodirsen/)
- [Awareness](https://www.actionduchenne.org/tag/awareness/)
- [children](https://www.actionduchenne.org/tag/children/)
- [orthotics](https://www.actionduchenne.org/tag/orthotics/)
- [parent](https://www.actionduchenne.org/tag/parent/)
- [carriers](https://www.actionduchenne.org/tag/carriers/)
- [blogs](https://www.actionduchenne.org/tag/blogs/)
- [duchenne](https://www.actionduchenne.org/tag/duchenne/)
- [lockdown](https://www.actionduchenne.org/tag/lockdown/)
- [recently diagnosed families](https://www.actionduchenne.org/tag/recently-diagnosed-families/)
- [dmd](https://www.actionduchenne.org/tag/dmd/)
- [10km](https://www.actionduchenne.org/tag/10km/)
- [Duchenne muscular dystrophy](https://www.actionduchenne.org/tag/duchenne-muscular-dystrophy/)
- [Edinburgh marathon](https://www.actionduchenne.org/tag/edinburgh-marathon/)
- [volunteers](https://www.actionduchenne.org/tag/volunteers/)
- [podcast](https://www.actionduchenne.org/tag/podcast/)
- [charity](https://www.actionduchenne.org/tag/charity/)
- [funding](https://www.actionduchenne.org/tag/funding/)
- [national lottery](https://www.actionduchenne.org/tag/national-lottery/)
- [project](https://www.actionduchenne.org/tag/project/)
- [london marathon](https://www.actionduchenne.org/tag/london-marathon/)
- [inspiring london marathon stories](https://www.actionduchenne.org/tag/inspiring-london-marathon-stories/)
- [stem cells](https://www.actionduchenne.org/tag/stem-cells/)
- [transition](https://www.actionduchenne.org/tag/transition/)
- [impact](https://www.actionduchenne.org/tag/impact/)
- [press release](https://www.actionduchenne.org/tag/press-release/)
- [inclusion](https://www.actionduchenne.org/tag/inclusion/)
- [disability](https://www.actionduchenne.org/tag/disability/)
- [changing places](https://www.actionduchenne.org/tag/changing-places/)
- [sporting bears](https://www.actionduchenne.org/tag/sporting-bears/)
- [christmas](https://www.actionduchenne.org/tag/christmas/)
- [trustee](https://www.actionduchenne.org/tag/trustee/)
- [music](https://www.actionduchenne.org/tag/music/)
- [accessible](https://www.actionduchenne.org/tag/accessible/)
- [SEND support](https://www.actionduchenne.org/tag/send-support/)
- [fostering](https://www.actionduchenne.org/tag/fostering/)
- [foster](https://www.actionduchenne.org/tag/foster/)
- [working](https://www.actionduchenne.org/tag/working/)
- [career](https://www.actionduchenne.org/tag/career/)
- [survey](https://www.actionduchenne.org/tag/survey/)
- [adconf22](https://www.actionduchenne.org/tag/adconf22/)
- [yesican](https://www.actionduchenne.org/tag/yesican/)
- [yes i can](https://www.actionduchenne.org/tag/yes-i-can/)
- [london landmraks half marathon](https://www.actionduchenne.org/tag/london-landmraks-half-marathon/)
- [raf falcons](https://www.actionduchenne.org/tag/raf-falcons/)
- [Siblings](https://www.actionduchenne.org/tag/siblings/)
- [Hope](https://www.actionduchenne.org/tag/hope/)
- [Family](https://www.actionduchenne.org/tag/family/)
- [Understanding](https://www.actionduchenne.org/tag/understanding/)
- [volunteer](https://www.actionduchenne.org/tag/volunteer/)
- [science](https://www.actionduchenne.org/tag/science/)
- [confidence](https://www.actionduchenne.org/tag/confidence/)
- [independence](https://www.actionduchenne.org/tag/independence/)
- [equity](https://www.actionduchenne.org/tag/equity/)
- [friendship](https://www.actionduchenne.org/tag/friendship/)
## Event Categories
- [General](https://www.actionduchenne.org/mc-event-category/general/)
- [Webinars](https://www.actionduchenne.org/mc-event-category/webinars/)
- [Yes I Can](https://www.actionduchenne.org/mc-event-category/yes-i-can/)
- [Turning Point](https://www.actionduchenne.org/mc-event-category/turning-point/)
- [Annual International Conference](https://www.actionduchenne.org/mc-event-category/annual-international-conference/)
- [DAD's](https://www.actionduchenne.org/mc-event-category/dads/)
- [TIme Out for Mums](https://www.actionduchenne.org/mc-event-category/time-out-for-mums/)
- [Grandparents Together](https://www.actionduchenne.org/mc-event-category/grandparents-together/)
- [Open Space](https://www.actionduchenne.org/mc-event-category/open-space/)
- [Awareness Day](https://www.actionduchenne.org/mc-event-category/awareness-day/)
- [Fundraising Event](https://www.actionduchenne.org/mc-event-category/fundraising-event/)
- [Family Event](https://www.actionduchenne.org/mc-event-category/family-event/)
- [In-Person Events](https://www.actionduchenne.org/mc-event-category/in-person-events/)
## Location Accessibility
- [Accessible Entrance](https://www.actionduchenne.org/mc-location-access/accessible-entrance/)
- [Accessible Parking Designated](https://www.actionduchenne.org/mc-location-access/accessible-parking-designated/)
- [Accessible Restrooms](https://www.actionduchenne.org/mc-location-access/accessible-restrooms/)
- [Accessible Seating](https://www.actionduchenne.org/mc-location-access/accessible-seating/)
- [Wheelchair Accessible](https://www.actionduchenne.org/mc-location-access/wheelchair-accessible/)
- [Bariatric Seating Available](https://www.actionduchenne.org/mc-location-access/bariatric-seating-available/)
- [Elevator to all public areas](https://www.actionduchenne.org/mc-location-access/elevator-to-all-public-areas/)
## Product categories
- [Uncategorized](https://www.actionduchenne.org/product-category/uncategorized/)
- [Support](https://www.actionduchenne.org/product-category/support/)
- [Education](https://www.actionduchenne.org/product-category/education/)