This study aims to screen adults with Pompe disease for eligibility for a planned gene therapy study. It was designed for people aged 18 and over with two disease-causing variants in the GAA gene who had been receiving a stable dose of enzyme replacement therapy (ERT) for at least 104 weeks. The study was conducted as a trial without an assigned phase and has been completed.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
Inclusion Criteria * Diagnosis of Pompe disease by blood or skin fibroblast GAA assay and two pathogenic variants in the GAA gene. * Age: at least 18 years at enrollment. * Subjects are capable of giving written consent. * Receiving ERT at a stable dose for at least 104 weeks. Exclusion Criteria * Any condition that would interfere with participation in the study as determined by the principal investigator. * Pregnancy or nursing mothers. * History of active hepatitis B, hepatitis C, or cirrhosis * Receiving any investigational agent.