Perry B Shieh, Nancy L Kuntz, James J Dowling, Wolfgang Müller-Felber, Carsten G Bönnemann, Andreea M Seferian, Laurent Servais, Barbara K Smith, Francesco Muntoni, Astrid Blaschek, A Reghan Foley, Dimah N Saade, Sarah Neuhaus, Lindsay N Alfano, Alan H Beggs, Ana Buj-Bello, Martin K Childers, Tina Duong, Robert J Graham, Minal Jain, Julie Coats, Vicky MacBean, Emma S James, Jun Lee, Fulvio Mavilio, Weston Miller, Fatbardha Varfaj, Michael Murtagh, Cong Han, Mojtaba Noursalehi, Michael W Lawlor, Suyash Prasad, Salvador Rico
BACKGROUND: X-linked myotubular myopathy is a rare, life-threatening, congenital muscle disease observed mostly in males, which is caused by mutations in MTM1. No therapies are approved for this disease. We aimed to assess the safety and efficacy of resamirigene bilparvovec, which is an adeno-associated viral vector serotype 8 delivering human MTM1. METHODS: ASPIRO is an open-label, dose-escalation trial at seven academic medical centres in Canada, France, Germany, and the USA...
December 2023: Lancet Neurology