AAV8.rMtm1

AAV8.rMtm1 is a preclinical gene therapy candidate consisting of an adeno-associated virus serotype 8 (AAV8) vector designed to deliver a functional copy of the rat myotubularin 1 (Mtm1) gene. Developed by researchers at Généthon and Inserm, it is specifically utilized in rat models of X-linked myotubular myopathy (XLMTM) to evaluate therapeutic efficacy and safety, particularly regarding hepatic impact. XLMTM is a severe neuromuscular disorder caused by mutations in the MTM1 gene, leading to profound muscle weakness and respiratory failure. The therapy aims to restore myotubularin protein expression, thereby correcting the phosphoinositide phosphatase deficiency that characterizes the disease. In preclinical studies, intravenous administration of AAV8.rMtm1 has demonstrated the ability to correct clinical, histological, and molecular phenotypes in Mtm1 knock-out rats, including improvements in motor and respiratory functions and the mitigation of hepatic molecular alterations.

Other names

AAV8-rMtm1AAV-8-rMtm1AAV 8-rMtm1