The first trial of a new treatment for Duchenne muscular dystrophy (DMD) will start later this year in the UK. The treatment, which has been developed by using human cells and mice experiments, hopes to overcome the effects of the genetic defect that causes the muscle wasting disorder. The plans were announced last week at the annual conference of the British Society for Human Genetics (BSHG) by Professor Francesco Muntoni, a Paediatric Neurologist at Imperial College's School of Medicine, who led the research.
DMD is a muscle-wasting disease that causes a steady deterioration of muscles and often results in death before the age of 30. The condition, which is usually inherited and incurable, affects 1 in 3500 male newborn boys. According to the researchers, DMD is caused by an inherited fault in the gene that encodes the body's instructions for making dystrophin, a crucial muscle protein.
Working in partnership with the Muscular Dystrophy Campaign, the Duchenne Parent Project and Duchenne Support Group, the scientists in this UK consortium (the MDEX Consortium) will use 'antisense-RNA' - a chemical relative of DNA - as a 'molecular patch' to fix the dystrophin gene deletions that are frequently the cause of DMD.
Professor Muntoni said: 'We knew from previous studies in mice that faulty dystrophin genes could be mostly repaired in this way, returning muscle strength to about 70 per cent of normal. However, this is the first time that different research groups have teamed up to pinpoint the optimal target DNA sequences in DMD that could be used in the treatment of humans'.
The initial trial will just explore the safety and efficacy of the new therapy by injecting the antisense RNA molecule into one muscle, but Professor Muntoni is optimistic that the same treatment could also be administered systemically, to target all the muscles of the body.