Although rare, Duchenne muscular dystrophy (DMD) is a devastating genetic disease that ultimately results in muscle degeneration and death. With no known cure, the approximately 1 in 3,600 boys affected by the disease are treated with steroid drugs and physical therapy in order to improve their quality of life.
DMD is caused by a genetic mutation that disrupts the synthesis of the protein dystrophin, a vital structural component within muscle tissue. The disease progresses so quickly that patients are wheelchair dependent by age 12 and have an average lifespan of only 25 years. Now however, a new treatment that just completed a phase II trial is giving new hope to those battling DMD.
In the trial, the drug eteplirsen appeared to increase the production of dystrophin, resulting in structural repair of muscle tissue and significant improvements in a patient s ability to walk. For the study, 12 boys with DMD underwent 48 weeks of treatment with the drug, which resulted in a 47 percent increase of dystrophin-positive muscle fibers.Furthermore, the study s principal investigator, Dr. Jerry Mendell of Nationwide Children s Hospital in Ohio, noted that there were no treatment-associated adverse events. Drug maker Sarepta Therapeutics hopes to apply to the FDA for accelerated approval, given the lack of effective treatment options.The results of the study are promising, says ACSH s Dr. Gilbert Ross. With no current cure for this terrible disease, this trial really provides hope for those individuals and their families who are affected by muscular dystrophy.