The division chief of neuromuscular disorders and vice-chair of research at Virginia Commonwealth University spoke to the ongoing success in the development of gene-mediated therapies and the challenges that come along with treating rare neuromuscular disease. [WATCH TIME: 3 minutes]
WATCH TIME: 3 minutes
“Many of these next-generation genetic tests and how to resolve the genetics and do that work—I didn’t learn that in medical school. I know lots of people didn’t learn that in medical school. It’s a pretty specialized area of focus and if you’re not seeing these patients all the time, it wouldn’t be something you would necessarily know about. Increasing education to the broader neurological community is going to be important.”
The treatment paradigm for limb-girdle muscular dystrophy (LGMD) has been challenging to navigate, with at least 33 known subtypes of the rare neuromuscular disease to address. Although advances in genetic medicine in this field have shown promise for the physician and patient communities, there are still limitations on the available tools for the management of LGMD. There is also a pressing need for precision genetic diagnosis to better determine patient selection and approaches to care.
At the 2022 Muscular Dystrophy Association (MDA) Clinical and Scientific Conference, March 13-16, in Nashville, Tennessee, Nicholas E. Johnson, MD, MSci, sat down with NeurologyLive® to discuss the challenges that linger despite the promise in ongoing research. The first barrier he pointed to is the need to catch up the wider physician community on genetic testing interpretation, and the second is the lack of availability of precise genetic therapies for the variety of subtypes of LGMD.
Johnson, who is the division chief of neuromuscular disorders and vice-chair of research at Virginia Commonwealth University, also spoke to the success that the neuromuscular field has seen in recent years, including some promising phase 2 developments for LGMD, and his hope for even more progress for treatments.
For more coverage of MDA 2022, click here.