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Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial

2023; Elsevier BV; Volume: 99; Linguagem: Inglês

10.1016/j.ebiom.2023.104894

2352-3964

Michael W. Lawlor, Benedikt Schoser, Marta Margeta, Caroline A. Sewry, Karra A. Jones, Perry B. Shieh, Nancy L. Kuntz, Barbara K. Smith, James J. Dowling, Wolfgang Müller‐Felber, Carsten G. Bönnemann, Andreea Seferian, Astrid Blaschek, Sarah Neuhaus, A. Reghan Foley, Dimah Saade, Etsuko Tsuchiya, Ummulwara R. Qasim, Margaret Beatka, Mariah J. Prom, Emily Ott, Susan Danielson, Paul Krakau, Suresh N. Kumar, Hui Meng, Mark A. Vanden Avond, Clive Wells, Heather Gordish‐Dressman, Alan H. Beggs, Sarah Christensen, Edward Conner, Emma S. James, Jun Lee, Chanchal Sadhu, Weston P. Miller, Bryan Sepulveda, Fatbardha Varfaj, Suyash Prasad, Salvador Rico,

Cellular transport and secretion

X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital muscle disease caused by mutations in the MTM1 gene that result in profound muscle weakness, significant respiratory insufficiency, and high infant mortality. There is no approved disease-modifying therapy for XLMTM. Resamirigene bilparvovec (AT132; rAAV8-Des-hMTM1) is an investigational adeno-associated virus (AAV8)-mediated gene replacement therapy designed to deliver MTM1 to skeletal muscle cells and achieve long-term correction of XLMTM-related muscle pathology. The clinical trial ASPIRO (NCT03199469) investigating resamirigene bilparvovec in XLMTM is currently paused while the risk:benefit balance associated with this gene therapy is further investigated.