Alan Beggs, PhD, on Challenges in Therapeutic Development for Rare Diseases


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

“I think one of the hallmarks of this field is that we need to remain flexible. We need to see what the respond to potential essays and safety signals that may be dissipated, and then be ready to modify our approaches accordingly.”

There are many challenges to developing novel therapies for rare diseases which currently have no disease modifying therapies available for treatment. These include toxicities that may not be fully understood or expected, disease heterogeneity, clinical trial recruitment, and industry hesitance.

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, chaired a session held at the 2024 Muscular Dystrophy Association (MDA) Clinical and Scientific Conference, held March 3-6, in Orlando, Florida, that focused on developing gene therapy for rare and ultra-rare neuromuscular diseases, and namely focused on the AT132 gene therapy (Astellas Pharma) program for treating X-linked myotubular myopathy (MTM).

CGTLive spoke with Beggs to learn more about the session. He discussed some of these challenges and overviewed some challenges that the Astellas program faced. He shared some strategies that different groups are pursuing to overcome these challenges.

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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