Action Duchenne Funds £200k For New Research For A Cure For Duchenne Muscular Dystrophy

Main Category: Muscular Dystrophy / ALS
Article Date: 04 Sep 2008 - 6:00 PDT

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New research project focuses on stem cell research to counter effects of muscle-wasting disease that affects boys and young men

Action Duchenne is funding a £200k research project into Stem Cell research undertaken by medical research scientists at University College London. Action Duchenne is a registered charity dedicated to raising awareness and raising funds for research into treatments and finding a cure, and providing support for families living with Duchenne Muscular Dystrophy. The research, a planned two year programme, will focus at first on pre-clinical trials in laboratory conditions, which if successful will follow with clinical testing on sufferers.

Duchenne is a severe muscle wasting disease that affects boys and young men, resulting in boys being in a wheelchair by aged 10 and without treatment, dying in their late teens or early twenties. Duchenne affects 2,500 people in the UK and about 40,000 people worldwide.

According to Dr Jennifer Morgan at the Institute of Child Health, University College, London; "We have received funding for this project from Action Duchenne and for a complementary project, entitled "The contribution of human stem cells to functional satellite cells" from the Duchenne Parent project (Netherlands). Without this funding, we would be unable to perform this exciting research and we are extremely grateful to these two charities and to the families that work so hard to support them."

Duchenne and Becker muscular dystrophies are caused by a mutation or variation of the dystrophin gene that carries the information for the protein dystrophin. Dystrophin is needed for the mechanical stability of the muscle cells and is located on the inside of the muscle cell membranes.

The new research project focuses on muscle regeneration using autologous stem cells. These stem cells, called mesangioblasts by discoverer Giulio Cossu in Italy, are isolated from the body from large blood vessels and are then cultivated in the laboratory to amounts necessary for the treatment of children. These are then infected using a lentivirus carrying a genetic fix for the new cells that enable them to go on to produce the missing protein dystrophin in the boys' muscle cells. These cells are then reintroduced into the patient.

It is hoped that these mesangioblasts will then create new muscle with the advantage that they will not have serious immune rejection as they are cells derived from the young people themselves.

Other research groups in Italy and France have already had some success with pre-clinical trials in this work. If successful in the first phase this current project will move to human clinical trials and is hoped to be used to treat both older and younger boys with Duchenne.

Nick Catlin, CEO of Action Duchenne said, "Action Duchenne has focussed effort into bringing together scientists and researchers as well as funding for this critical research. We hope that the first year of the research will be successful enough to be followed by further pre clinical work and then a full clinical trial programme. This is a Europe wide collaboration that has already led to exciting results in the lab. We need to continue to learn more about stem cells to treat muscle diseases in order to achieve Action Duchenne's aim of a cure for Duchenne."

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.

Action Duchenne