In the 1960s, Dr. Jerry Mendell encountered his first patient with Duchenne muscular dystrophy, a genetic disorder that affects muscle function. Over fifty years later, Dr. Mendell developed the first treatment that effectively slows down the progression of the disease. Individuals with Duchenne are born with a mutation in the dystrophin gene, which is crucial for maintaining healthy muscles. Symptoms typically manifest between the ages of 3 to 6 and worsen over time, leading to respiratory problems, heart complications, and loss of muscle control.
Although gene therapy is considered the most ideal solution for Duchenne, delivering a healthy copy of the dystrophin gene posed challenges due to its large size. Dr. Mendell’s research focused on a related muscle disorder with slightly different mutations in the dystrophin gene, which allowed individuals to retain healthy muscle function and lead relatively normal lives. Collaborating with Sarepta Therapeutics, Dr. Mendell and his team devised a method to deliver the essential parts of the gene to Duchenne patients, leading to the approval of the gene therapy by the U.S. Food and Drug Administration in June 2023.
The initial results of the gene therapy on young boys have shown promising outcomes, with participants producing healthier copies of dystrophin and showing no signs of muscle weakness or other major symptoms of Duchenne. Dr. Mendell, a senior adviser at the Center for Gene Therapy at Nationwide Children’s Hospital, emphasizes that further refinement and improvement of the gene therapy are ongoing. This groundbreaking achievement marks