FDA Approves First Gene Therapy for Duchenne Muscular Dystrophy

For decades, doctors and researchers have been working diligently to discover new treatments and provide more options for patients with Duchenne muscular dystrophy (DMD), a debilitating genetic disease that ravages the muscles in the body and leads to a loss of movement and coordination. Most people with DMD are unable to walk by age 12 and, with no treatments other than supportive care, die by their 30s or 40s.

Today, DMD patients have been given new hope. The U.S. Food and Drug Administration (FDA) has approved Elevidys, the first gene therapy for DMD, for patients with the disease between the ages of 4 and 5 years old. This newly approved gene therapy delivers a copy of a gene that encodes a shortened, functional form of dystrophin, the gene that is mutated in DMD patients. Dystrophin is like a shock absorber for muscles, and without it, muscle deteriorates. The shortened microdystrophin in this gene therapy helps improve muscle health and slows muscle wasting. 

“It has taken nearly 40 years to come close to the realization of this dream and I could not be more excited to see this becoming a reality,” said John Brandsema, MD, a pediatric neurologist in the Neuroscience Center and the Neuromuscular Section Head at Children’s Hospital of Philadelphia. 

CHOP served as one of the clinical trial sites for Elevidys, developed by Sarepta Therapeutics. This approval marks the seventh cell and gene therapy that will be offered to patients at CHOP. Gene therapy requires multidisciplinary expertise and careful follow-up. CHOP’s doctors have been perfecting gene therapy treatments since the FDA approved the first ever gene therapy in the United States in 2017. Currently, CHOP is a site for more than 30 gene therapy clinical trials, with more on the horizon. 

Gene therapies are giving hope to patients with rare and complex diseases who often have no other treatment options. DMD is usually diagnosed in children between the ages of 3 and 6 years old, and approximately 20,000 children are diagnosed with the disorder each year. A telltale sign of DMD is Gowers’ sign, which causes children difficulty when getting up from a sitting or lying position. Children typically need a wheelchair by age 12 or 13 because they are too weak to walk, and many adolescents with DMD experience heart or lung problems.

CHOP’s Neuromuscular Program, recognized by the Muscular Dystrophy Association, represents one of the largest centers for the treatment of DMD in the country. The program provides comprehensive, multidisciplinary care for many DMD patients and is an active site for important research studies, including an imaging study to see if MRIs can effectively monitor disease progression and another potential therapy for these patients. 

The approval of this gene therapy for DMD represents a major milestone, and CHOP’s Neuromuscular Program is continuing to study the genetic origins of the disease, as well as ways of improving or stabilizing muscle tissue in these patients. Most active clinical trials for new DMD therapies are happening at CHOP, including other gene therapies.

Learn more about the FDA approval of Elevidys in this press release from Sarepta Therapeutics.