Peripheral vein injection of AAV8-MTM1 leads to long-term survival and correction of severe muscle pathology in a canine model of X-linked myotubular myopathy: Results from a dose escalation study

Mutations in the myotubularin gene (MTM1) result in X-linked myotubular myopathy (XLMTM), a fatal pediatric disease of the skeletal muscle characterized by small centrally nucleated myofibers containing abnormal mitochondrial accumulations. Patients typically present with severe hypotonia and respiratory failure. Previous studies in Mtm1 mutant mice demonstrated efficacy of gene therapy to treat the disease. We also previously reported that administration of an adeno-associated virus serotype 8 (AAV8) vector expressing myotubularin under the muscle-specific desmin promoter via high pressure regional hind limb perfusion prolonged life and restored muscle function in myotubularin deficient dogs.

Source: Neuromuscular Disorders - September 11, 2015 Category: Neurology Authors: D. Mack, K. Poulard, M. Goddard, J. Snyder, R. Grange, J. Doering, J. Strande, V. Latournerie, P. Veron, L. Yang, L. Buscara, C. Le Bec, S. Martin, M. O'Callaghan, F. Mingozzi, A. Beggs, M. Lawlor, F. Mavilio, M. Childers, A. Buj-Bello Source Type: research