Action Duchenne supports successful bid for EU5.5m research funding into Exon 53

Dec. 11, 2012 - PRLog -- Action Duchenne, a leading national charity focused on finding viable treatments for Duchenne Muscular Dystrophy, stated its delight in the recent EU grant win of EU5.5m by a team of scientists, led by Prof. Francesco Muntoni of the UCL Institute of Child Health based at Great Ormond Street Hospital. The charity co-funded the bid with the Muscular Dystrophy Campaign, which was awarded to develop and test a new treatment for children with Duchenne Muscular Dystrophy. The treatment will aim to provide a ‘molecular patch’ for exon 53 and will be known as SRP-4053. EU1.4m of the grant has been allocated to UCL and Great Ormond Street following the promising results of trials of Eteplisen, which aims to skip exon 51, and was also led by Prof. Muntoni and published by US company Sarepta (formerly AVI Biopharma) in 2011 and 2012.

Initially the project will concentrate on identifying the best drug formula to ‘skip’ exon 53 and will be followed by a clinical safety test. The trial is expected to start in 2014 and will recruit 12 patients, of which four will be from the UK. Its aim is to assess the safety, tolerability and efficacy of the drug at different dose levels. Sarepta will provide the drug and fund half of the costs of the production and clinical trials.

Paul Lenihan, National Director at Action Duchenne commented, “Action Duchenne has long recognised the value of the work of Professor Muntoni and his team in drug development and clinical trials. We saw the opportunity to support the EU grant application by co-funding the bid process and providing project management expertise and support. We are delighted by the outcome which will make a real difference to our families and young people with Duchenne. We will also be instrumental in providing input from the Duchenne families that are involved or have been involved as the research is carried out over the next four years.”

Professor Muntoni said; “This funding is excellent news for the DMD community, which has been eagerly awaiting developments in the targeting of other exons following our trial focusing on exon 51.”

The project, called ‘Skip-NMD’ is a collaboration between clinicians and researchers from Newcastle University, Royal Holloway (University of London), Universita’ Cattolica Del Sacro Cuore, Italy and Institut de Myologie, Pierre et Marie Curie University, France. Industrial partners SYSNAV France and CRIS Belgium will also be involved. As well as the Duchnenne Family Support Group, the consortium will also work with Parent Support groups in France and Italy as well as the Muscular Dystrophy Campaign.

Exon skipping aims to provide a ‘molecular patch’ which helps the dystrophin gene in DMD patients to produce functioning dystrophin. Applying such a patch, DMD patients may suffer less severe symptoms, similar to Becker Muscular Dystrophy patients who can often walk in adulthood.

Duchenne Muscular Dystrophy affects one in 3,500 male births in the UK, and is the most common and severe type of muscular dystrophy.  Sufferers are diagnosed, usually, by the age of five and rarely live past their twenties. Since being established in 2001, Action Duchenne has successfully campaigned to increase awareness of the disease to improve standards of care and raised several millions of pounds to fund medical research and partnerships.

For more information on Action Duchenne and Duchenne Muscular Dystrophy please visit: www.actionduchenne.org.

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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: www.dmdregistry.org

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: www.decipha.org

Action Duchenne promotes social inclusion within the community for young men living with Duchenne through its Genius programme.  Its Takin’ Charge project is a programme aimed at developing skills of adulthood that will be additional to GCSEs covering areas such as IT and social media, self advocacy for medical care, workplace skills, skills for independent living including developing a social life, relationships and sexual health.   For more information please visit: www.actionduchenne.org/geniusproject

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.  www.actionduchenne.org/NAC

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: www.actionduchenne.org

Editors Contacts
Kate Angus
Action Duchenne  
Tel: 020 8556 9955 or 07920 723494

Email: Kate@actionduchenne.org

Andreina West
PR Artistry Limited
Tel: 01491 639500
email: Andreina@pra-ltd.co.uk