Autophagic myopathies / myofibrillar myopathies / distal myopathies / pompe disease

Pompe disease is a genetic neuromuscular disorder caused by loss of acid alpha-glucosidase (GAA) expression, leading to glycogen accumulation, muscle tissue degeneration, progressive muscle weakness and cardiac insufficiency. Enzyme replacement therapy (ERT) is currently the only approved treatment for Pompe. Uptake of circulating, synthetic GAA by the muscle tissue is limited, however, with corresponding impacts on efficacy of ERT. AT845 is an investigational, AAV-based gene therapy designed to reconstitute human GAA synthesis and activity directly in skeletal muscles and heart.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: M. Eggers, C. Vannoy, J. Huang, P. Purushottoman, J. Brassard, J. Gray, M. Lawlor, C. Sadhu, F. Mavilio Source Type: research