Abstract Lysosomal Storage Disorders (LSDs) are a diverse group of inherited, monogenic
diseases caused by functional defects in specific lysosomal proteins. The lysosome is a …

Background: Pompe disease, also denoted as acid maltase or acid α-glucosidase deficiency
or glycogen storage disease type II, is a rare, autosomal recessive lysosomal storage …

Purpose To assess the magnitude of benefit to early treatment initiation, enabled by
newborn screening or prenatal diagnosis, in patients with cross-reactive immunological …

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

Pompe disease (PD) is a progressive neuromuscular disorder caused by a lysosomal acid α-
glucosidase (GAA) deficiency. Enzymatic replacement therapy is available, but early …

Objective Enzyme replacement therapy (ERT), the only approved therapy for infantile-onset
Pompe disease (IOPD), had heterogeneous clinical effects due to factors such as severity …

Background Classic infantile onset of Pompe disease (c-IOPD) leads to hypotonia and
hypertrophic cardiomyopathy within the first days to weeks of life and, without treatment …

Pompe disease (PD) is a neuromuscular disorder caused by a deficiency of acid alpha-
glucosidase (GAA)–a lysosomal enzyme responsible for hydrolyzing glycogen. GAA …

The aim of this study was to compare the long‐term outcome of classic infantile Pompe
patients treated with 20 mg/kg alglucosidase alfa every other week (eow) to those treated …

Background Enzyme replacement therapy (ERT) with alglucosidase alfa is the treatment for
patients with Pompe disease, a hereditary metabolic myopathy. Home-based ERT is …