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Exon skipping is the most promising of several new potential treatments for Duchenne Muscular Dystrophy to emerge in very recent years

skipDuchenne to raise £5m over the next five years, and to lobby Government for matched funding to support gene therapies for all those living with Duchenne

Action Duchenne, the UK’s leading charity dedicated to finding treatments and a cure for Duchenne Muscular Dystrophy has today launched its skipDuchenne research fund. The fund will raise £5m over the next five years and will be seeking Government matched funding (from the fund announced by David Cameron in April) to support clinical trials of gene therapies for Duchenne patients in the UK. Action Duchenne will be working closely with the International Duchenne Exon Skipping Consortium (iDESC) to facilitate development of systemic anti-sense therapeutics for neuromuscular disease, with the goal of providing access to treatments to as many Duchenne patients as quickly as possible.

skipDuchenne is already supporting cutting edge research and earlier this year provided a grant of £160k to Royal Holloway University College to develop full length dystrophin, effectively a cure. A grant of £23k was secured by skipDuchenne from Jeans for Genes to further support the project.

The first exon skipping drug is expected to be on the market in 2014, but due to the way that genetic medicines are currently approved, it will only benefit 14% of Duchenne patients. skipDuchenne is currently building a fund of £180k to sequence rarer exons, which will help to ensure that treatments that will benefit between 60% and 80% of boys living with Duchenne are available by 2014.

Martin Bashir, broadcaster, patron of Action Duchenne and whose brother Tommy had Duchenne commented, “My own brother lived until he was 29, but even now this is very much the exception. We are on the verge of perhaps the most significant breakthrough in the treatment of Duchenne. This is a pivotal and critical moment in the fight against this disease and the funds needed are a drop in the ocean when compared to the social and human cost of caring for these young men. We urgently need the Government to provide the matched funding required to bring these treatments to market as soon as possible.” Martin Bashir, who will be covering the Olympics for the broadcaster NBC, is advocating on both sides of the Atlantic for those with Duchenne.

In April 2012 the Prime Minister, David Cameron launched a fund of £180 million to provide grant funding for innovative small and medium sized enterprises and academics to develop solutions to healthcare challenges. Mr Cameron said:
"The UK boasts a world-leading life sciences sector which is changing at an incredible pace. And I'm absolutely committed to helping it widen its significant foothold in the global market. Benefiting both patients and the British economy, this £180 million programme will support both SMEs and academics and help to ensure that they can turn their promising ideas into innovative technologies."

Action Duchenne’s Boys to Men Campaign which was the focus of recent lobbies to Westminster, Holyrood and Stormont (the lobby to the Welsh Assembly will take place on 17 July) is calling on the government to provide matched funding for skipDuchenne from this fund.

Nick Catlin, Head of Research at Action Duchenne commented, “Since we launched Action Duchenne in 2001 so much has happened in the race to find a cure for Duchenne. In those days they said there was no hope, now we are on the edge of a breakthrough and a potential cure for this devastating condition. Now that we are so close to viable treatments and a cure, skipDuchenne aims to raise vital funds to ensure that these medicines are developed quickly and made available so that they benefit the current generation of children living with this cruel condition. We are asking our members, supporters, funding partners and the Government to support us in this goal.”

Tyran Hawthorn, aged 25, who is living with Duchenne, recently featured in an ITV Meridian news piece, “Out of the sixteen boys at Treloars College who were there at the same time as me only one other friend is still alive. Unfortunately, he is in intensive care where he has been since January. We keep hearing how young men with Duchenne should live into their 30s and 40s, but at the moment that simply isn’t happening. We need these gene therapies urgently.”

Professor Francesco Muntoni, Chair of Paediatric Neurology, ICH - Dubowitz Neuromuscular Centre, Dept of Neurosciences & Mental Health, Faculty of Population Health Sciences and a founding member of iDESC said, “The landscape of potential treatments for Duchenne Muscular Dystrophy has improved out of all recognition in the last ten years. We believe we are now getting closer to a viable treatment and iDESC has been set up to ensure a high level of focus to delivering these treatments as soon as possible. We are delighted that skipDuchenne is supporting iDESC with much needed funds to ensure that we deliver for these children.”

Matthew Wood, Professor of Neuroscience, Department of Physiology, Anatomy and Genetics, University of Oxford said, “Exon skipping is the most promising of several new potential treatments for Duchenne Muscular Dystrophy to emerge in very recent years. It is crucial now to capitalise on these scientific advances and to ensure that the clinical potential of exon skipping is maximised and that its benefits reach as many Duchenne boys as possible as quickly as possible. skipDuchenne is poised to play a very important role in achieving these goals”

Dr Keith Foster at the School of Biological Sciences at Royal Holloway, who is looking at a system to produce full length dystrophin, said, “Gene therapy research is progressing at a faster pace than ever before. It is crucial to raise the funds so that we are able to finish the project and to change the regulatory climate so that the treatments are made available to Duchenne patients as quickly as possible. The skipDuchenne research fund will help support our efforts and ensure that we keep awareness levels high.”

To make a donation to Action Duchenne - Text ACTION to 70003 Texts cost £3 plus network charge. Action Duchenne receives 100% of your donation. Please obtain bill payers permission. Charity No 1101971


Notes to Editors

About Action Duchenne

Established in 2001 Action Duchenne aims to support and promote innovative research into a cure and effective medicines for Duchenne/Becker Muscular Dystrophy. The charity, which is led by Duchenne families, aims to promote awareness of the condition, to improve care services, and provide access to a range of educational and support/development programmes for people living with Duchenne at every stage of the condition. This is achieved by working in partnership with government agencies, NHS and care organisations, other charities, academic, scientific and research groups, and biotech companies worldwide.

Action Duchenne is actively campaigning for best practice in care for Duchenne based on the publication of an international consensus document in Lancet Neurology in Jan/Feb 2010. The published article was the product of an extensive review by 84 international experts in Duchenne Muscular Dystrophy diagnosis and care, and was supported by the Centers for Disease Control (CDC) in the US. It provides an expert guide to recommendations on the multidisciplinary care that should be available to all individuals with Duchenne. Several Duchenne patient organisations including Action Duchenne and the TREAT-NMD network have helped to produce a ‘Guide for Families’, based on the original academic article, which is written in language accessible to all without a medical background.

Since 2003 Action Duchenne has provided £4m for research projects and partnerships. The charity has worked with the MDEX consortium, Department of Health, and the Medical Research Council to deliver new clinical trials for Duchenne drugs. In addition, it has been instrumental in developing projects with biotech companies both in the UK and US including key projects with AVI Biopharma and Summit.

In 2005 Action Duchenne launched the DMD Patient Registry, a national database that holds gene information of people living with Duchenne that is used to speed up the recruitment of patients for clinical trials. For more information please visit:

In 2008 Action Duchenne launched the Include Duchenne project in partnership with Decipha. This programme addresses the learning and behaviour needs of those living with Duchenne. In 2011 Include Duchenne won the National Lottery Award for Best Education Project for Decipha. For more information please visit:

Action Duchenne promotes social inclusion within the community for young men living with Duchenne through its Genius programme. For more information please visit:
In 2010 the National Advocacy Council was launched to spearhead the lobby for government funding for research into Duchenne and to improve access to Standards of Care.

Patrons of Action Duchenne include: actress Helena Bonham-Carter, cellist Julian Lloyd-Webber, journalist & broadcaster Martin Bashir and radio broadcaster & media trainer Susan Bookbinder. In addition, Richard Goodman, one of Great Britain’s leading young athletes is an Ambassador for Action Duchenne,

For more information please visit:

Editors Contacts:

Nick Catlin
Head of Reserach, Action Duchenne
Tel: 0208 556 9955

Andreina West
PR Artistry Limited
Tel: 01491 639500

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