Alan Beggs, PhD, on Lessons Learned With Developing X-Linked Myotubular Myopathy Gene Therapy


The director of the Manton Center for Orphan Disease Research at Boston Children’s Hospital discussed takeaways from a session on rare disease gene therapy at MDA.

“What we've learned is that the liver actually is a target for therapies that we didn't recognize before. So, I think another approach here will be to ensure that whatever vector is developed for the next clinical trial, there is also promoter and control elements that allow expression in the liver to occur early, hopefully to eliminate this risk for patients.”

There is much to learn more about toxicities that patients may experience when receiving these disease modifying therapies, even as gene therapies may be establishing themselves as a mode of treatment in disease fields including neuromuscular disease.

A session held at the 2024 Muscular Dystrophy Association (MDA) Clinical and Scientific Conference, held March 3-6, in Orlando, Florida, focused on developing gene therapy for rare and ultra-rare neuromuscular disease, and namely used the AT132 gene therapy (Astellas Pharma) program for treating X-linked myotubular myopathy (MTM). The session was chaired by Alan Beggs, PhD, Sir Edwin & Lady Manton Professor of Pediatrics, and director, Manton Center for Orphan Disease Research, and core director, Molecular Genetics Core, Intellectual and Developmental Disabilities Research Center (IDDRC), Boston Children’s Hospital.

CGTLive spoke with Beggs to learn more about the session. He overviewed some lessons learned with the AT132 program.

Click here to view more coverage of the 2024 MDA Conference.

1. Beggs A, Buj-Bello A, Childers C, Dowling J, Gray J. Development of Gene Therapy for Rare and Ultra-Rare Neuromuscular Disease. Presented at: 2024 MDA Clinical and Scientific Conference; March 3-6; Orlando, FL.
2. Astellas reports update to September 1 announcement on the ASPIRO clinical trial of AT132 in patients with X-linked myotubular myopathy. News release. Astellas Pharma. September 14, 2021.
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