Commentary
Video
Translating Oculopharyngeal Muscular Dystrophy Research Into Clinical Application: Matthew Wicklund, MD
Author(s):
The professor of neurology at the University of Texas Health Science Center San Antonio discussed some of the challenges with therapeutic development for OPMD, as well as advances and barriers to gene therapy approaches. [WATCH TIME: 4 minutes]
WATCH TIME: 4 minutes
"This is a very smart move—a combination strategy that addresses both the abnormal and normal protein balance could redefine therapy for OPMD."
Oculopharyngeal muscular dystrophy (OPMD) is a rare, late-onset genetic disorder characterized by progressive muscle weakness, primarily affecting the muscles responsible for swallowing and eyelid movement. It is typically caused by mutations in the PABPN1 gene, leading to abnormal protein aggregation and subsequent muscle cell degeneration. Historically, treatment for OPMD has been symptomatic and supportive rather than curative, as no therapies specifically targeting the underlying genetic cause have been available.
Despite the lack of approved therapies, there has been some momentum in the clinical pipeline, with a handful of agents currently in development. Gene therapy, a hot topic in the neurology community, has also been noted as a promising avenue for treatment; however, questions remain about the administration of these approaches and whether their effects will be pronounced for years to come.
Matthew Wicklund, MD, a professor of neurology at the University of Texas Health Science Center San Antonio, recently gave a talk at the 2025 Muscular Dystrophy Association (MDA) Clinical & Scientific conference, held March 16-19 in Dallas, Texas, on the clinical and preclinical developments in OPMD. Following the session, he sat down with NeurologyLive® to discuss ways to take emerging research and apply it to the clinical care of OPMD. He spoke on the promise of gene therapy, detailing a novel “knock-down and replace” approach utilizing an adeno-associated viral (AAV) vector, which simultaneously suppresses abnormal protein production. Furthermore, he emphasized the challenges of developing therapies for OPMD, particularly balancing safety, efficacy, and the complexities of genetic strategies tailored to this unique disorder.
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