First multicenter real-world analysis of switching to next-generation enzyme replacement therapies in late-onset Pompe disease.

ABSTRACT:

Background

Next-generation enzyme replacement therapies (ERTs) for late-onset Pompe disease (LOPD), including avalglucosidase alfa and cipaglucosidase alfa with miglustat, have been developed to improve muscle targeting and enzyme stability. Real-world evidence on therapy switching between ERT preparations remains limited.

Methods

A prospective, observational, multicenter cohort study was conducted across German neuromuscular centers. Adults with genetically confirmed LOPD who transitioned to avalglucosidase alfa (Aval) or cipaglucosidase alfa with miglustat (Cipa/Mig) between August/2022 and September/2024 were included. Clinical data were extracted from medical records using a standardized case report form. Following EPOC recommendations, data captured comprised six-minute

SUBMITTER: Mendelsohn DH 

PROVIDER: S-EPMC12906561 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature