In the 1960s, Dr. Jerry Mendell came across his first patient with Duchenne muscular dystrophy, a genetic disorder that leads to the progressive weakening of muscles. Fast forward more than 50 years later, and Mendell has developed a groundbreaking treatment that can slow down the progression of the disease. Duchenne is caused by a mutation in the dystrophin gene, which produces a faulty protein necessary for healthy muscle function. Symptoms typically start to appear in children between the ages of 3 and 6, and worsen over time, eventually leading to breathing difficulties and heart problems as well as loss of muscle control.
While gene therapy to replace the faulty gene is considered the most effective solution for Duchenne, it has been challenging to find a way to deliver a healthy copy of the gene into cells due to its size. Mendell’s research focused on related muscle disorders where individuals with slightly different mutations in dystrophin were still able to maintain healthy muscle function and relatively normal lives. This led him to collaborate with Sarepta Therapeutics to develop a way to deliver crucial parts of the gene to patients with Duchenne.
The gene therapy developed by Mendell and his team was approved by the U.S. Food and Drug Administration in June 2023. The first group of young boys treated with the therapy have shown promising results, with their bodies producing healthier copies of dystrophin and not experiencing typical symptoms such as muscle weakness. Mendell now serves as a senior adviser at the Center for Gene Therapy at Nationwide Children’s Hospital but believes that this is just the beginning, and there is still much work left to be done to perfect gene therapy for Duchenne.
In summary, Dr. Jerry Mendell discovered his first patient with Duchenne muscular dystrophy in the 1960s while working at Nationwide Children’s Hospital. After more than 50 years of research, he has developed a treatment that can slow down the progression of this genetic disorder caused by mutations in the dystrophin gene responsible for healthy muscle function production.
Mendell’s research focused on related muscle disorders where individuals had slightly different mutations in dystrophin but were still able to maintain relatively normal lives.
His collaboration with Sarepta Therapeutics resulted in developing an effective gene therapy solution that was approved by FDA in June 2023.
The first group of young boys treated with this therapy showed promising results when their bodies produced healthier copies of dystrophin without experiencing typical symptoms such as muscle weakness.
Despite these achievements, Mendell believes there is still much work left to be done before we can perfect gene therapy for Duchenne muscular dystrophy completely.
