First targeted treatment success for Duchenne Muscular Dystrophy
25 July 2011
Scientists part-funded by the Medical Research Council (MRC) have made an important breakthrough in the development of a treatment for Duchenne Muscular Dystrophy (DMD), a devastating disease which affects around 100 boys born each year in the UK. The research was led by scientists at the UCL Institute of Child Health (ICH) and the MRC Centre for Neuromuscular Diseases in Newcastle and London and co-funded by AVI BioPharma.
The research group showed that a gene-based drug treatment called AVI-4658 was effective in raising levels of dystrophin, a key muscle protein missing in sufferers of DMD, in seven out of 19 trial participants aged five to 15 years. The treatment was administered at Great Ormond Street Hospital and the Royal Victoria Infirmary, Newcastle. AVI-4658 works by blocking a section of mutated DNA involved in around 13 per cent cases of DMD, although different mutations can also cause the disease. The scientists suggest that the treatment tested in this trial could be used to treat some boys with DMD, and that overall, the approach could work for at least 70 per cent of sufferers.
DMD is a very serious and life limiting condition, which causes progressive muscle weakness due to the breakdown and loss of muscle cells. By ages eight to 12 years boys become unable to walk, and by their late teens or early twenties the condition can become severe enough to limit life expectancy.
Professor Francesco Muntoni, who led the research from the ICH, said:
“These are very exciting results that prove the case for an even more detailed look at this genetic therapy. I’ve worked with patients with DMD for many years and this is the first time we can say with confidence that we’ve made a significant breakthrough towards finding a targeted treatment. Importantly, the study drug was extremely well tolerated, with no appreciable side effects detected during the study period in any of the boys. If our strategy shows continued success, this therapy could substantially reduced muscle damage in affected boys with DMD, improve the quality of life for DMD patients, their mobility and the way their condition is managed as they get older.”
Professor Max Parmar, director of the MRC Clinical Trials Unit, said:
“A large proportion of new drugs do not make it past the phase II stage of testing reached here, so there is real excitement that this treatment could work. This is a great example of partnership between the Medical Research Council, industry, universities and the NHS, undertaking experimental studies in the clinic with the potential to bring real benefits to patients and their families. What this encourages us to do now is conduct larger, longer term studies. These will enable us to see whether this drug, which brings expertise in genetics and chemistry together, can make a major long-term difference to the quality and length of life for boys with this devastating disease.”
The research was conducted by the MDEX Consortium, which is chaired by Professor Muntoni. The consortium aims to develop and test treatments for DMD. This study is published in The Lancet today.
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