Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a
defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ …

Pompe disease is an inherited neuromuscular disorder caused by deficiency of the
lysosomal enzyme acid alpha-glucosidase (GAA). The most severe form is infantile-onset …

Glycogen synthase 1 (GYS1), the rate-limiting enzyme in muscle glycogen synthesis, plays a
central role in energy homeostasis and has been proposed as a therapeutic target in …

Importance In the previously reported Comparative Enzyme Replacement Trial With
neoGAA Versus rhGAA (COMET) trial, avalglucosidase alfa treatment for 49 weeks showed …

Cyclodextrin (CD), a cyclic oligosaccharide, is a pharmaceutical additive that improves the
solubility of hydrophobic compounds. Recent research has focused on the potential active …

Propionic acidaemia is a rare disorder caused by defects in the propionyl-coenzyme A
carboxylase α or β (PCCA or PCCB) subunits that leads to an accumulation of toxic …

Abstract Purpose of Review This review summarizes the clinical presentation and provides
an update on the current strategies for diagnosis of Pompe disease. We will review the …

Abstract Purpose of Review We describe the most common phenocopies of hypertrophic
cardiomyopathy, their pathogenesis, and clinical presentation highlighting similarities and …

Background and Objectives Pompe disease is a rare, progressive neuromuscular disorder
caused by deficiency of lysosomal acid α-glucosidase (GAA) and subsequent glycogen …

Abstract Purpose Mini-COMET (NCT03019406; Sanofi) is a phase 2, open-label, ascending-
dose, 3-cohort study, evaluating avalglucosidase alfa safety, pharmacokinetics, and efficacy …