making muscle wasting history

Takin' Charge - living a full life - Jes Rahbek Denmark

Jes has led a team in Denmark since the 1970's that has pioneered better care and independent living for those with Duchenne. They are now seeing many patients living into their 40's and beyond.

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Stem Cells for Duchenne - Dr Jenny Morgan UCL and Professor Terry Partridge Washington USA

Jenny and Terry explain their research programmes that are trying to find ways of delivering stem cell treatments in Duchenne

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Learning and behaviour in Duchenne - Janet Hoskin Decipha

Janet explains how her Decipha programme has supported over 80 young people with Duchenne in schools across the UK. Supported by funding from the Big Lottery, Children in Need and Action Duchenne.

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Learning and behaviour in Duchenne - Dr James Poysky USA

James is a practising psychologist in the US and also has a son with Duchenne. He explains the high risk of related learning and behaviour problems.

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Personalised Medicines for Duchenne - Dr Padraig Wright GSK

Padriag gives a detailed account of GSK's exon skipping programme and also explains the role of the newly formed rare disease unit at GSK

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A review of Prosensa's exon skipping programme - Dr Giles Campion Netherlands

Giles describes Prosensa's extensive clinical trial programme to develop exon skipping drugs based upon their 2'OMe chemistry.

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Enabling DMD clinical trials with large scale production of AAV vectors- Rob Kotin USA

Rob has developed with support from the NIH an important production facility in the US for AAV vectors. He describes here how vectors are produced and how these could be scaled up for future GMP prduction

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Update on SMT1100 a utrophin upregulator for Duchenne - Jon Tinsley Summit Oxford

Jon and his team are now reworking the SMT1100 molecule for Duchenne. He describes recent progress at biopharma Summit.

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AAV based mRNA therapies for Duchenne - Dr Luis Garcia Paris France

Luis has been working towards a clinical trial using AAV vectors that carry an exon skipping U7 promoter. He describes in detail how this system might work in humans and animal models and progress so far.

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Expectations of Clinical trials - Susie Darricott Prosensa Netherlands

Susie from the biopharma Prosensa discusses the process of clincal trials.

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Discovering Drugs for Duchenne - Dr Ellen Welch PTC Therapuetics USA

Ellen highlights PTC's drug discovery programme for Duchenne including Ataluren

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Biglycan as a therapy for Duchenne - Dr Justin Fallon USA

Justin discusses the use of Biglycan for Duchenne

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Physiotherapy - Marion Main Great Ormond Street London

Marion describes the need for physiotherapy to support those living with Duchenne.

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Targeting therapuetic molecules in the mitochondria - Dr Mike Murphy Cambridge

Mike has created a drug called MitoQ that potentially acts as a powerful antioxidant by being targeted at the Mitochondria. Would this be of benefit in Duchenne

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Light at the end of the tunnel and the debate between Nick Catlin and Annemeike Rus on N=1 clinical trials

Kay Davies updates us on the recent developments in Duchenne research as well as highlighting progress in her labs Utrophin up-regulation programme.
Both sides of the debate about the problems of present trial protocols in Duchenne is presented by Nick and Annemeike. Nick gives an alternative N=1 protocol.

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Early Treatment with Lisinopril and spironolactone for the heart - Paul Jansen USA

Paul's team have recently completed a study on the ACE inhibitor Lisinopril and he reports here some promising results.

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IGF-1 therapy and muscle function in Duchenne - Dr Meilan Rutter USA

Meilan and the team in Cincinnati Children's Hospital have been recruiting for a trial of IGF-1. This is also part of the Pilot Trials Now programme supported by Action Duchenne.

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Catena for Duchenne - Dr Nicholas Coppard Santhera Switzerland

Nicholas has presented the results of the trials on Santhera's Catena drug for patients in Duchenne Muscular Dystrophy

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Revatio for heart disease in DBMD - Dr Dan Judge USA

Dan and his team have been recruiting patients for a trial on sildenifil or viagra to see if this stabilises problems with the heart in Duchenne. This is part of the Pilot Trials Now programme supported by Action Duchenne.

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The Holy Grail of Multiple exon skipping - Professor Terry Partridge Washington USA

Terry maps out strategies for multi skipping that will be necessary if we are able to treat a the widest range of those living with Duchenne with exon skipping drugs.

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Action of ACE inhibitor perindopril on cardio skeletal muscle in Duchenne - Dr Denis Duboc France

Denis has nearly completed an extensive clinical trial using Perindopril. he discusses the potential of this drug for delaying heart symptoms and also the possible effects on skeletal muscle.

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Peptide based inhibition of NF-kB - Professor Paul Jansen USA

Paul discusses his teams published research into down regulating NF-kB as a potential therapy for Duchenne.

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AVI 4658 Clinical Trials - Dr Ed Kaye AVI Biopharma

Ed explains the development of AVI's exon skipping drug and the results of clinical trials

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Endocrinology in Duchenne - Dr Meilan Rutter USA

Meilan explains the role of the endocrine system in the human body and how this can be disrupted by the long term use of steroids.

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MDEX Clinical Trial Programme and study 28 - Professor Francesco Muntoni - UCL London

Francesco explains the successful completion of the MDEX clinical trials using AVI's morpholino exon skipping drugs. He also maps out further MDEX trials and programmes.

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Bone Protection for children with Duchenne treated with corticosteroids - Dr Ros Quinliven Great Ormond Street London

Steroids are recommended as a key drug that helps to slow the muscle wasting in Duchenne. However there are a number of side effects that can be experienced when taking steroids over a long period. Here Ros explains the cause and how best to manage these problems. Action Duchenne has produced a booklet edited by Ros that is available from our Office.

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Using AAV vectors and microdystrophin Professor George Dickson Royal Holloway London

By using AAV vectors to package a gene to replace the faulty dystrophin George's gene therapy aims to provide a body wide treatment that could slow the muscle wasting for all boys. Action Duchenne is also funding a new and exciting AAV project in the Royal Holloway lab.

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Duchenne Alliance - Christine McSherry Jett Foundation USA

Action Duchenne has always supported collaboration with other Duchenne non profits. Christine has recently set up the Duchenne Alliance to bring together Duchenne funders so that we can all focus our efforts internationally on new drugs and treatments for Duchenne. The Alliance has just launched the Duchenne Dashboard a unique online platform that offers researchers and funders the chance to review and find backing for new projects.

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Improving the design of antisense drugs using peptides - Professor Matthew Wood Oxford

Matthew in collaboration with Dr Mike Gait at Cambridge has been improving the design of the chemistry of drugs that make exon skipping work. The new peptide conjugates of antisense oligonucleotides are now being developed for clinical trial.

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Improving the design of antisense drugs using peptides - Dr Mike Gait Cambridge

Mike in collaboration with Professor Matthew Wood at Oxford has been improving the design of the chemistry of drugs that make exon skipping work. The new peptide conjugates of antisense oligonucleotides are now being developed for clinical trial.

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March of the Young men - Gordon McClurg

Gordon McClurg was diagnosed with Duchenne at the age of 3. He now runs Care Management Services that supports people with a variety of neuromuscular conditions that want to live independently.

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Introduction to exon skipping - Professor Steve Wilton Australia

Steve takes you through an excellent description of exon skipping and the problems with the dystrophin gene that are the root cause of Duchenne Muscular Dystrophy. He also updates us all on recent developments in new drugs for exon skipping. Listen and look at the slides from the presentation.

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Caring for the Heart - Dr John Bourke Newcastle

John outlines the problems associated with the Heart and Duchenne. He describes how the early use of ACE inhibitors and Beta Blockers can help to maintain heart function for longer. There is news of his "Heart protection Trial" currently undergoing recruitment.

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Biomarkers for Clinical Trials - Dr Sebahattin Cirak UCL London

The aim of this study is to identify modifier genes for Duchenne that can be used to monitor disease progress and drug response that could become surrogate markers for clinical trials.

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What do NHS Reforms mean for Patient Care? Changing the map for Duchenne

Eilidh Macpherson from Action Duchenne, Arlene Wilkie Neurological Alliance and Alastair Kent discuss the current Government reforms to the NHS and its impact on services for Duchenne.

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There is an Elephant in the Room - Progress of Duchenne Research

Dr Karl Bettelheim who is a Trustee for Action Duchenne and retired Scientific Researcher explores the widespread use of supplements and devices readily available on the internet.

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