making muscle wasting history

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About actionduchenne

Interests

im Nick the current CEO of Action Duchenne. I am a founding member of the Charity and Saul my son has Duchenne. I have four other lovely kids, Saskia, Toby, Emilia and Davy Ray and live with Janet who is also Sauls mum.
I still remember so clearly the day we sat in Francesco Muntoni's room and he told us our lovely little boy had Duchenne. The tough bit is no cure. At least 80% of childhood Leukaemia can now be cured but for Duchenne only steroids. Duchenne is an unrelenting disease. It is so hard seeing your boy slowly lose his strength. But for so many reasons he is a great kid and I can't imagine our family without him.
We set up Action Duchenne simply to get a cure for all the young boys and back in 2001 we were told that would not happen for his generation. We decided from the off that we had to make people aware of Duchenne as it seemed to be a lost disease. We had to try to get other parents to get their message out there to the world and I hope everyone uses this website to tell it as it is.
But we had to raise money and we had to get the government to support us. The funding for Duchenne research is still pitiful. In 2003 we helped to set up MDEX and we won an amazing grant for exon skipping. I still think that was a watershed that came at a time when suddenly research moved into clinical trials.
Now we see more trials and more potential drugs for Duchenne. The hope we talked about in 2001 is now a reality.
Of course scientific research is a lottery with many potential drugs never making it to a licenced treatment. But the momentum has now been created and we must make sure we keep up the fight for new drugs and ultimately a way to cure this disease.
Anyway my boy Saul is 8 and starting to do really well at school with a lot of help from Janet's Decipha programme. He's still on his feet and plays goalie at football with his brother Davy Ray and sister Emilia. They are a loud and lively bunch and I'm really not sure where they get it from!
Lets keep raising as much as we can. Lets insist that the Governemnt ring fence research funds for Duchenne. Lets make sure we get the best medical care for our boys. Most of all never forget to enjoy every minute of every day.

Its Time to Stop Wasting

I am a founding member of Action Duchenne then PPUK back in 2001. Perhaps our biggest achievement to date was to lead the setting up of the MDEX consortium that has led to the UK's first clinical trials for exon skipping.

But the lobbying has been fantastic and has opened many doors and raised so much needed awareness of Duchenne. The Charity has always had this dual strategy of raising money ourselves and fighting to win Government backing.

We now have a bigger job to convince the Government to link the development of new drugs with better access to standard of care for all.

I'm very worried by the hopeless lack of medical care for young men with Duchenne. It is a scandal that in Denmark so many more young men are living longer with better care, access to housing and independent living. These are political issues which we still have to win here in the UK.

But we set out to cure Duchenne and that remains our overriding aim

Achievements

Since 2001 Action Duchenne has led the way in new Duchenne Research. Action Duchenne has funded the following major projects and led the development of the MDEX exon skipping project since it was established:

• 2003: £60K Dr Qi Lu and Professor Terry Partridge Imperial College London Systemic delivery of Antisense
oligoribonucleotide

• 2003: £15K Professor Kate Bushby and Dr Michelle Eagle Use of steroids for non ambulatory boys with DMD Newcastle University

• 2003: Establishing the MDEX consortium with leading UK scientists and Clinicians in partnership with the Muscular Dystrophy Campaign and Duchenne Family Support Group . Funding of £2.2m secured for the MDEX consortium from the Department of Health and the Medical Research Council

• 2005: 100K Dr Jenny Morgan and Professor Francesco Muntoni Imperial College and UCL London - Stem cell
therapy using a lentivirus to modify the faulty gene

• 2006: £150K Professor Kay Davies University of Oxford Using AAV/U7 to develop exon skipping for Duchenne in
partnership with ICE (Monaco and France Duchenne Parent projects)

• 2006: £60K Professor Steve Wilton University of Western Australia - Using explants to develop Exon skipping

• 2007: £175K Established the ZF Partnership with leading drug discovery company Summit that has helped to support the further development of a utrophin upregulation drug by Biomarin in the USA. In partnership with Charley's Fund and Gavriel Meir Trust

• 2007: £30K Profs. Volker Straub and Kate Bushby, Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK - Effect of pharmacologically increased endothelial permeability on the uptake of antisense oligonucleotides in cardiac myocytes in mdx mice

• 2008: £155K Dr Matthew Wood University of Oxford PNA exon skipping project

• 2008: £20K Dr Mike Gait University of Cambridge, MRC Molecular Biology Laboratory - Development of peptide
PNA conjugates for exon skipping

• 2008: £80K Professor Steve Wilton University of Western Australia - Antisense Oligonucleotide Design in
partnership with the James and Matthew Foundation Ireland

• 2009: £166K Dr Matthew Wood and Dr Mike Gait - Advances in exon skipping for Duchenne muscular dystrophy:
heart correction and multi-exon skipping in partnership with Duchenne Ireland

• 2009: £35K Appointment of Dr Karen Rafferty Treat NMD Duchenne Muscular Dystrophy Coordinator. To support
the dissemination of internationally agreed Standards of Care for Duchenne to families and clinicians in the UK

• 2009: £800,000 AVI Biopharma - The project with the US biopharma has three progammes: Engaging with
European and US regulatory authorities to develop exon skipping as a platform medicine, Research and development of other oligos to skip exons 53, 44, 45 and further Development of European Clinical Trial sites

• 2010: £150,000 in partnership with Duchenne Ireland - Advances in exon skipping for Duchenne muscular
dystrophy: heart correction and multi-exon skipping - Matthew JA Wood, Haifang Yin, Michael J Gait, Department of Physiology, Anatomy

2011 £160K Royal Holloway College Dr Keith Foster and Professor George Dickson AAV delivery of of genes to correct the dystrophin gene mutations in all boys

Long Term Goals

Charity Aims
• To advance and support innovative research to cure and treat Duchenne
• To work as a partner with organisations providing resources to help to improve the length and Quality of Life of those living with Duchenne and Becker Muscular Dystrophy
• The Charity to be led by parents and young people affected by Duchenne and Becker Muscular Dystrophy

Objectives for 2010-11

• To raise £1m in 2010/11
• To increase the number of participants in the DMD Registry to 900 by October 2011
• To review and monitor existing Action Duchenne research and development projects to ensure milestones are met and
to seek new opportunities to fund research and clinical trial projects that lead to market approval of new drugs and medicines.
• To build relationships with sponsoring biotech companies and clinical trial investigators interested in developing new
medicines or gene therapies for Duchenne
• To deliver information to all families about the use of the A&E pack
• To provide support so that every child with learning and behaviour difficulties is assessed by our Decipha partner and is offered entry to their programmes.
• To provide information so that the membership of Action Duchenne has the opportunity to learn and understand the need to have access to best practice medical care in line with the published internationally agreed Standards of Care for Duchenne
• To provide information so that the membership of Action Duchenne has the opportunity to understand how progress is being made with the development of new drugs and gene therapies to treat Duchenne.
• To engage young people living with Duchenne in community and Arts projects through our Genius programme.
• To develop our National Advocacy Council as a spearhead for campaigning to improve Government funding for
Duchenne research, to improve access to Standards of Care and ensure new medicines for Duchenne are made available on demand.

Your Shout [3] - (View All Articles)

• Utrophin Upregulation and new clinical trials
  10:39AM, 27 April 2012 | 0 comments

  What is utrophin upregulation and will it work?

• A Gene Therapy for Duchenne by 2014
  11:54AM, 23 April 2012 | 1 comments

  Nick Catlin attended the Action Duchenne National Meeting in Birmingham on Saturday with over 80 families, supporters and health professionals.

• Personalised medicines - dream or reality?
  09:44PM, 27 February 2012 | 0 comments

  The search for a cure