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 M Seferian, Astrid Blaschek, Sarah Neuhaus, A Reghan Foley, Dimah N Saade, Etsuko Tsuchiya, Ummulwara R Qasim, Margaret Beatka, Mariah J Prom, Emily Ott, Susan Danielson, Paul Krakau, Suresh N Kumar, Hui Meng, Mark Vanden Avond, Clive Wells, Heather Gordish-Dressman, Alan H Beggs, Sarah Christensen, Edward Conner, Emma S James, Jun Lee, Chanchal Sadhu, Weston Miller, Bryan Sepulveda, Fatbardha Varfaj, Suyash Prasad, Salvador Rico
BACKGROUND: 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...
December 11, 2023: EBioMedicine