The Time for DMD Gene Therapy is Now: A Chat with the MDA | BioSpace

Originally published: Jul 29, 2020

After almost 15 years since the first gene therapy trial for Duchenne muscular dystrophy (DMD) began, the dream of a DMD gene therapy drug is getting closer to a reality.

BioSpace sat down with Sharon Hesterlee, Ph.D., chief research officer at the Muscular Dystrophy Association (MDA), to talk about the history and challenges of developing gene therapy for DMD and the DMD gene therapy field as a whole, including Pfizer’s and Sarepta Therapeutics’ latest clinical data.

Duchenne muscular dystrophy (DMD)

is a progressive muscle wasting disease caused by a genetic mutation. The mutated gene is on the X chromosome, making DMD an X-linked disease. This explains why it largely affects boys as they don’t have a backup copy of the gene (they only have one X chromosome).

The first signs of DMD appear as the young boys begin to walk and get more mobile, typically between the ages of 2 to 5. “They have trouble walking, aren’t walking as well as their peers, and can’t jump,” Hesterlee commented. “Most boys stop walking and need a wheelchair between 9 and 14 years old.”

But the disease doesn’t just affect their legs — it affects muscles all over their body. The most troublesome…