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Press Release
7 August 2008

Action Duchenne provides £150k for gene therapy research for new treatment for Duchenne Muscular Dystrophy

New programme receives funding for cure for muscle wasting disease from
Action Duchenne

Research Scientists at Oxford University have received £150k raised by Action Duchenne to fund the latest research into ‘Exon skipping’, a gene therapy approach to treat Duchenne Muscular Dystrophy. The project forms part of the larger research programme currently being undertaken by MDEX Consortium* UK, a group of research scientists that has received over £2M of funding from the UK government and Medical Research Council (MRC) to conduct clinical trials on DMD patients.

Duchenne affects 2,500 people in the UK and about 40,000 people worldwide. It has no cure and is caused by mutations in the dystrophin gene that prevent correct reading of the genetic code, the result of which is that the essential muscle protein dystrophin is not produced. This results in progressive muscle wasting, severely limiting mobility in teenage patients (boys and men) and leading to premature death in their twenties from respiratory or cardiac problems (the heart muscle is directly affected by the genetic defect). The aim of any therapy to cure DMD is to restore dystrophin protein to the affected muscle and heart tissues.

Recent research by the MDEX Consortium has demonstrated that short molecules – called antisense oligonucleotides (AOs) – can restore the production of dystrophin protein to affected tissues. This is done by a process called ‘exon skipping’, in which the parts of the genetic code affected by a mutation are “patched” AO’s so that that the code can be correctly read.

This latest research project is being headed up by Matthew Wood at Oxford University, a member of the MDEX Consortium**: “This exciting new research project is made possible by Action Duchenne and its donation of funding. As a result of current progress with AO technology we believe that we are now on the verge of having a genetic treatment for Duchenne and of being able to offer real hope to Duchenne sufferers and their families.”

In clinical trials to date AO delivery - even with injections of high doses - has been poor, since the level of dystrophin production is not high enough in muscle cells nor is it reaching the heart. Wood’s research will investigate further ways to improve the delivery of AOs by the use of different types of AO chemistry (including so-called peptide nucleic acids or PNAs) and by attaching short sections of cell penetrating peptides which dramatically improve AO delivery to all muscle groups, including the heart. The Wood lab in Oxford is working closely with Dr Mike Gait and colleagues at the MRC Laboratory of Molecular Biology in Cambridge who have also been developing new cell penetrating peptides as PNA conjugates for enhanced delivery into cells.

Nick Catlin, CEO of Action Duchenne said; “This research project is groundbreaking in the treatment of Duchenne. While Exon skipping will not be a complete cure for Duchenne muscular dystrophy, it will be a therapy and should reduce the severity of its symptoms. It is therefore imperative that further funds are found to help solve the remaining problems with developing these medicines and to make them available as soon and as widely as possible to all Duchenne sufferers.”

*The MDEX Consortium is funded by the department of Health and groups together nine researchers as well as the charities Muscular Dystrophy Campaign, Action Duchenne and Duchenne Parents Support Group.

**This genetic technology may also be applied in the research for diseases such as cancer and the HIV virus, where the particular gene can be disabled, causing the malignant cells to die.


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Notes to Editors

About Action Duchenne
Action Duchenne (formally Parent Project UK) was set up by Duchenne families in 2001 to promote new research for a cure for Duchenne. The charity has a strong record in funding research and has to date funded 8 major projects costing £800,000 and has lead the £1.6m DoH funding of the MDEX project. These projects have enabled much needed early work to be completed on exon skipping and other therapeutic approaches.
Action Duchenne holds an international conference every year to bring together researchers and families to exchange new research developments and provide a vital meeting venue for scientists.

In 2005 Action Duchenne launched the Duchenne Registry, the first National Duchenne database that holds gene information of people living with Duchenne and can be used to speed up the recruitment of patients for clinical trials.

In 2006 Action Duchenne launched a comprehensive learning and behaviour toolkit for use by parents and education professionals.

For more information please visit: www.actionduchenne.org

Editors Contacts

Nick Catlin
CEO, Action Duchenne
Tel: 0208 556 9955
Email: nick@actionduchenne.org

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

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