Matthew Wicklund, MD, on Clinical Translation of Oculopharyngeal Muscular Dystrophy Research

This video originally appeared on our sister site, NeurologyLive®.

"This is a very smart move—a combination strategy that addresses both the abnormal and normal protein balance could redefine therapy for OPMD."

A rare, late-onset genetic disorder characterized by progressive muscle weakness, oculopharyngeal muscular dystrophy (OPMD) causes progressive muscle weakness and primarily affects the muscles responsible for swallowing and eyelid movement. Mutations in the PABPN1 gene, leading to abnormal protein aggregation and subsequent muscle cell degeneration, are typically the cause of the disorder. No therapies that specifically target the root cause of OPMD are currently available. As such, supportive care and symptom management have historically been the hallmarks of treatment.

Although, some momentum is gathering in clinical trials, with a few candidates currently in development. Gene therapy constitutes a promising approach and is currently a hot topic in neurology. Although, questions regarding the administration of such approaches and the possibility of long-lasting pronounced effects remain.

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 CGTLive®'s sister site 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 virus (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.

Click here for more MDA 2025 coverage.