Gene therapy for Duchenne muscular dystrophy safely preserves muscle function – Penn: Office of University Communications

A gene therapy being developed atPenn Medicineto treat Duchenne muscular dystrophy (DMD) successfully and safely stopped the severe muscle deterioration associated with the rare, genetic disease in both small and large animal models, according to a first-of-its-kind study from Penn Medicine researchers. The findings, published online on Monday, Oct. 7, inNature Medicine,puts the field within closer reach of a safe and effective gene therapy that uses a substitute protein without triggering immune responses known to hinder other therapeutic approaches.

Found mostly in boys, DMD is caused by mutations in a sex-linked gene that stop production of a muscle-building protein known as dystrophin. Without it, muscles progressively deteriorate and weaken starting at a very young age and only worsen from there. Most patients arent able to walk by age 12 and die of heart or respiratory failure by the time they reach their 30s, though respirators have helped some live longer.

With their modified gene therapy approach, a multidisciplinary team from thePerelman School of Medicineengineered adeno-associated virus (AAV) vectors to deliver a substitute protein for dystrophin in small and large animal DMD models to keep the muscles intact. The synthetic substitute, based on a naturally occurring protein called utrophin, proved to be an effective and safe alternative, as it protected muscle in mice and dogs with naturally occurring DMD-like mutations, including a large deletion that closely mirrors the large dystrophin deletions found in humans.

For the first time, weve shown how a carefully constructed version of a dystrophin-related protein can safely prevent the breakdown of muscle and maintain its function over time in the most informative animal models. This discovery has important implications for gene therapy and how we work toward safe and effective treatments for muscular dystrophy, sayssenior authorHansell Stedman, an associate professor of surgery. With these results, we have a strong rationale to move this forward into human clinical trials.

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Gene therapy for Duchenne muscular dystrophy safely preserves muscle function - Penn: Office of University Communications