Results from a clinical trial of eteplirsen, a drug designed to treat Duchenne muscular dystrophy, suggest that the therapy allows participants to walk farther than people treated with placebo and dramatically increases production of a protein vital to muscle growth and health. The study, led by a team in The Research Institute at Nationwide Children's Hospital, is the first of its kind to show these results from an exon-skipping druga class of therapeutics that allows cells to skip over missing parts of the gene and produce protein naturally.
"I've been doing this for more than 40 years and this is one of the most exciting developments we've seen," says Jerry Mendell, MD, lead author of the study and director of the Center for Gene Therapy at Nationwide Children's. "It offers great hope to patients with Duchenne muscular dystrophy and their families."
The research, which appears online Aug. 1 in the journal Annals of Neurology, is the first study from a double-blind controlled randomized trial of an exon-skipping agent to provide conclusive proof based on the standard six-minute walk test used to measure muscle function in patients with Duchenne muscular dystrophy (DMD), the most common form of muscular dystrophy in children.
About one in every 5,000 male births in the U.S. has the disorder, which usually leaves patients unable to walk on their own by age 12. Children with DMD have a mutation that cripples the body's ability to produce a protein called dystrophin, which helps absorb the shock or energy that's created when a muscle contracts. Without it, that released energy injures muscle fibers. Over time, the muscle degenerates, scar tissue builds up and fat slowly replaces the dead muscle.
The exact mutation varies from patient to patient but in 65 percent of cases, the dystrophin gene is missing large sections of DNA called exons, which carry the instructions for protein production. Accompanying this type of mut
|Contact: Gina Bericchia, Nationwide Children's media relations|
Nationwide Children's Hospital