Milestone Moment: A Look Back at the First Gene Therapy Trial for DMD

In 2006, MDA funded the first-ever gene therapy trial for Duchenne muscular dystrophy (DMD). This pioneering trial was a significant step toward addressing the root cause of DMD, and it laid the groundwork for future gene therapies in the neuromuscular field.

Jerry Mendell, MD (second from right), led the first clinical trial for a DMD gene therapy.

The trial, led by Jerry R. Mendell, MD, Professor of Pediatrics and Neurology at Nationwide Children’s Hospital and The Ohio State University College of Medicine in Columbus, Ohio, focused on gene-based approaches to restore dystrophin protein production. In DMD, mutations in the dystrophin gene cause a lack of dystrophin protein, which muscle cells need to stay intact.

Dr. Mendell and his team showed that it is possible to use gene therapy to target the disease-causing gene. This success set a new course for treatment possibilities. Today, gene-based therapies, including exon-skipping drugs and advances in gene-editing technologies, owe much of their progress to the foundation laid by early trials like this one.

Everybody at MDA would like to express our gratitude for the scientists who devote their careers to making this research possible, as well as the individuals and families who participate in studies and clinical trials to advance the development of therapies for the whole community. Because of you, the milestone we achieved in 2006 will continue to benefit the neuromuscular community for generations to come.