Duchenne Muscular Dystrophy
Watch Professor George Dickson’s research video into Duchenne Muscular Dystrophy.
Professor George Dickson, from the School of Biological Sciences at Royal Holloway, University of London and a team led by scientists at the UCL Institute of Child Health (ICH), have made an important breakthrough in the development of a treatment for Duchenne Muscular Dystrophy (DMD).
DMD is a devastating and life-limiting condition that affects one in 3,500 male births in the general population, with around 100 cases diagnosed in the UK each year.
Together with the MDEX Consortium, the research group showed that a gene-based drug treatment was effective in restoring the dystrophin protein that is missing in sufferers of DMD, in seven out of 19 clinical trial participants.
Professor Dickson said: “This is another exciting and important milestone towards finding an effective treatment for Duchenne Muscular Dystrophy. More research is needed, but the results of the clinical trial are extremely encouraging.”
Three of the participants in the two highest dose cohorts showed dystrophin levels that exceeded 18 per cent of those found in normal muscle cells. There was significant statistical increase across the cohorts.
Thirteen per cent of boys with DMD could be treated with this gene specific, exon-skipping therapy, the largest group by a single antisense. Overall, scientists say this approach could work for at least 70 per cent of DMD sufferers.
DMD causes progressive muscle weakness due to the breakdown and loss of muscle cells. Patients lack a single important protein in their muscle fibres called dystrophin. By the ages of eight to 12, boys become unable to walk and by their late teens or early 20s the condition can become severe enough to limit life expectancy.
In this clinical trial of 19 patients, study participants aged five to 15 at Great Ormond Street Hospital and the Royal Victoria Infirmary, Newcastle, were given weekly doses of the drug, AVI-4658. The drug had already been tested for safety and efficacy by the MDEX Consortium and AVI Biopharma in an earlier phase of the study (Kinali et al, Lancet Neurol 2009).
The research is funded by the Medical Research Council (MRC) and AVI BioPharma, and the patient groups of the Muscular Dystrophy Campaign and Action Duchenne.
Professor George Dickson and his research team received a national award for its world-class research in the development of novel therapies for rare diseases, such as Duchenne Muscular Dystrophy (DMD) in 2014.