Pompe disease (PD) is an inherited metabolic disorder caused by a deficiency of acid α-
glucosidase (GAA), leading to lysosomal accumulation of glycogen, mainly in skeletal and …

Background Enzyme replacement therapy (ERT) with alglucosidase alfa has been found to
improve outcomes in patients with classic infantile Pompe disease, who without treatment …

Abstract Background: Infantile-onset Pompe disease (IOPD) is a rare and devastating,
autosomal recessive lysosomal storage disorder that manifests immediately after birth. In …

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 …

Purpose The study aimed to describe central nervous system (CNS) progression in patients
with infantile-onset Pompe disease (IOPD) and explore the potential clinical impact and …

Abstract Background Classical infantile‐onset Pompe disease (IOPD) is the most severe
form of Pompe disease. Enzyme replacement therapy (ERT) has significantly increased …

Objective To determine the outcomes of patients with later-onset Pompe disease (LOPD)
identified through newborn screening (NBS). Study design A prospective observational …

Background: Aicardi-Goutières syndrome (AGS) is a rare genetic disorder characterized by
a spectrum of motor abilities. While the Aicardi-Goutières syndrome severity score favors …

Pompe disease is a lysosomal storage disorder with impaired glycogen degradation caused
by a deficiency of the enzyme acid α-glucosidase (GAA). Children with the severe infantile …