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Breakthrough in treatment for incurable rare disease

Posted on 23/11/2011

Professor George Dickson’s research video into Duchenne Muscular Dystrophy

Professor George Dickson, from the Department of Biological Sciences at Royal Holloway, University of London and a team lead 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 thataffects one in 3,500 male births in the general population, with around 100cases diagnosed in the UK each year.

Together with the MDEX Consortium, the research group showedthat a gene-based drug treatment was effective in restoring the dystrophinprotein that is missing in sufferers of DMD, in seven out of 19 clinical trialparticipants.

Professor Dickson said: “This is another exciting andimportant milestone towards finding an effective treatment for DuchenneMuscular Dystrophy. More research is needed, but the results of the clinicaltrial are extremely encouraging.”

Three of the participants in the two highest dose cohortsshowed dystrophin levels that exceeded 18 per cent of those found in normalmuscle cells. There was significant statistical increase across the cohorts.

Thirteen per cent of boys with DMD could be treated withthis gene specific, exon-skipping therapy, the largest group by a singleantisense. Overall scientists say this approach could work for at least 70 percent of DMD sufferers.

DMD causes progressive muscle weakness due to the breakdownand loss of muscle cells. Patients lack a single important protein in theirmuscle fibres called dystrophin. By the ages of eight to 12, boys become unableto walk and by their late teens or early twenties the condition can becomesevere enough to limit life expectancy.

In this clinical trial of 19 patients, study participantsaged five to 15 at Great Ormond Street Hospital and the Royal VictoriaInfirmary, Newcastle, were given weekly doses of the drug, AVI-4658. The drughad already been tested for safety and efficacy by the MDEX Consortium and AVIBiopharma 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.



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