Autophagic myopathies / myofibrillar myopathies / distal myopathies / pompe disease

Pompe disease (PD), a rare, progressive neuromuscular disorder caused by deficiency of acid α-glucosidase (GAA) and resulting accumulation of lysosomal glycogen, presents as a broad clinical spectrum. In late-onset PD (LOPD), signs/symptoms present at any age and without the cardiomyopathy seen in infantile-onset PD. Progressive respiratory function loss due to weakened diaphragm and resp iratory muscles leads to considerable morbidity and early mortality. Avalglucosidase alfa is an investigational enzyme replacement therapy designed for enhanced receptor targeting and enzyme uptake, aimed at increased glycogen clearance and potential improvement upon the clinical efficacy achieved w ith alglucosidase alfa.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: P. Clemens, The  COMET Study Group, The COMET Study Group Source Type: research