Posted on 12/03/2012
Action Duchenne was one of the exhibitors at last month's Rare Disease Day
Action Duchenne, the leading national charity dedicated to raising awareness of and finding a cure for Duchenne Muscular Dystrophy, is to provide £160,000 of funding to support a pioneering project at Royal Holloway, University of London.
The project, which is being led by Dr Keith Foster and Professor George Dickson from the School of Biological Sciences at Royal Holloway, is looking at a system to produce full length dystrophin. Dystrophin is the protein that protects and builds muscle, and it is the lack of dystrophin that causes muscular dystrophy. The system has shown dystrophin expressed at the cell membrane which is an indication that it has a therapeutic effect.
Dr. Keith Foster, commented: “If this approach to treating muscular dystrophy is successful it will treat all patients with the condition. Currently, the most promising treatments are only suitable for a sub-set of patients. This could be a major breakthrough in the treatment of muscular dystrophy.
“Furthermore, if successful it is envisaged that the treatment of patients would ideally take place very soon after diagnosis, before there were any symptoms, which could enable the children to benefit maximally. Top up treatments may be required only every five years or so. This approach is significantly different to the current exon skipping therapies being developed where patients will need continual treatment.”
Nick Catlin, CEO of Action Duchenne said, “We are very excited about this latest development in the race to find a cure for Duchenne Muscular Dystrophy. This is the first treatment that could be called a cure, and while it is necessarily a very complex process, which if successful, will take a number of years to bring to market, it is too good an opportunity to miss.”
Duchenne Muscular Dystrophy affects one in 3,500 male births in the UK, and is the most common and severe type of muscular dystrophy. Until fairly recently life expectancy for those living with Duchenne was late teens/early twenties. With the development of multi-disciplinary care this is improved to a point where young men are now living often into their thirties.