The Revolution in Limb-Girdle Muscular Dystrophy With Gene Therapies: Nicholas E. Johnson, MD, MSci

WATCH TIME: 2 minutes

“It’s not without challenges, though. When you think about the big picture of limb-girdle muscular dystrophies, there are at least 26 or 27 forms that are suitable for gene replacement therapy, and it’s going to be fine to do the first 5 or 6 because they’re commercially viable strategies. How do we get ultra-rare patients—who would benefit from that gene replacement therapy—access to that therapy when it’s not commercially viable?”

The field of medicine has long sought an ability to take a precision approach to the treatment of patients, but the dream of achieving precision medicine is easier spoken than executed. Although, some fields, such as that of neuromuscular disorders, are prime for this type of approach. With disorders such as limb-girdle muscular dystrophy (LGMD) having a genetic basis, a gene-mediated approach is often not only feasible but achievable. But not every patient has yet reaped the benefits of the advances made in recent years.

At the 2022 Muscular Dystrophy Association (MDA) Clinical and Scientific Conference, March 13-16, in Nashville, Tennessee, an expert in the care of patients with LGMD, Nicholas E. Johnson, MD, MSci, sat down with NeurologyLive^® to discuss these advances and the challenges that come along with them. One of the major roadblocks, he explained, is that for LGMD, there are a variety of genetic mutations that drive the disease—some of which are extremely rare. As their numbers are so small, the development of approaches to these specific mutations can be a challenge, and patients with ultra-rare mutations are often left to watch as those with more common ones get access to life-changing therapies.

Johnson, the division chief of neuromuscular disorders and vice-chair of research at Virginia Commonwealth University, also shared the importance of improving another precision approach: precise genetic diagnoses. Improving the delivery of gene therapy approaches begins with the parallel improvements in genetic diagnoses, to ensure that patients get the proper therapy without the risk of irreversible harm.

For more coverage of MDA 2022, click here.