Mathula Thangarajh, MD, PhD, on the Potential of Gene Therapy to Address Cognitive Symptoms in Muscular Dystrophy

“In terms of the gene therapy approaches right now, which are in clinical trials, we have no evidence that it will cross the blood-brain barrier unless it's delivered intrathecally. However, that being said, there are preclinical models and a couple of European researchers have shown that either antisense oligonucleotides or gene therapies could be delivered into the CNS, and it's actually able to reverse cognitive deficits, improve outcomes, and also restore dystrophin.” 

While the physical manifestations of muscular dystrophy are well known, the cognitive and behavioral effects tend to get less attention. Mathula Thangarajh, MD, PhD, a child neurologist and neuromuscular physician at Virginia Commonwealth University, chaired a session focused on these symptoms, "Making Visible the Invisible: Cognitive and Behavioral Health in Muscular Dystrophy”, at the Muscular Dystrophy Association (MDA) Clinical & Scientific Conference, held in Dallas, Texas, March 19-22, 2023.

In an interview with CGTLive, Thangarajh provided an overview of the presentations given during the session, which included talks on imaging methods such as structural MRI and a review of how behavioral modification should be approached. In summarizing, Thanagarajh discussed why it is important for patients to be able to more easily access behavioral health resources, especially those who are younger.

She also discussed the potential of gene therapy to address cognitive symptoms, particularly noting the limitations of administration faced by the gene therapies currently in clinical trials. Although, she explained that a different approach to neuromuscular disease with antisense oligonucleotides or gene therapies delivered directly to the central nervous system could offer hope.