RecruitingPompe Disease

A Global Prospective Observational Registry of Patients With Pompe Disease

Eligible age

All ages

Accepts

All genders

Locations

12 states

Healthy volunteers

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About this study

This is a global, multicenter, prospective, observational registry of patients with Pompe disease, including those with late-onset pompe disease (LOPD) and infantile-onset pompe disease (IOPD). Both untreated patients and those being treated with an approved therapy for Pompe disease are eligible to participate. The objectives of the registry are: * To evaluate the long-term safety of Pompe disease treatments through collection of data that describe the frequency of adverse events (AEs)/serious adverse events (SAEs) occurring in Pompe disease patients * To evaluate the long-term real-world effectiveness of Pompe disease treatments * To evaluate the long-term real-world impact of Pompe disease treatments on quality of life (QOL) and patient-reported outcomes (PROs) * To describe the natural history of untreated Pompe disease

Sponsor: Amicus Therapeutics

You may qualify if…

✓ Diagnosis of LOPD or IOPD based on documented deficiency of GAA enzyme activity and/or GAA genotyping

You may not qualify if…

✕ Patients who are currently receiving investigational therapy for Pompe disease in a clinical trial, a compassionate use program, or an expanded access program (EAP)