NCT06121011

A Global Prospective Observational Registry of Patients With Pompe Disease

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 500 (estimated)
• Sponsor: Amicus Therapeutics · Industry
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

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

Conditions

• Pompe Disease

Interventions

Type	Name	Description
BIOLOGICAL	Cipaglucosidase alfa	Enzyme Replacement Therapy (ERT) via intravenous infusion
DRUG	Miglustat	Participants received ATB200 co-administered with AT2221 (Miglustat)
BIOLOGICAL	Alglucosidase alfa or Avalglucosidase alfa	Patients prescribed other commercially available ERT after local regulatory approval
OTHER	Untreated	Patients who are not currently receiving any medical therapy for Pompe disease.

Timeline

• Start date: 2024-02-16
• Primary completion: 2034-12-20
• Completion: 2034-12-20
• First posted: 2023-11-07
• Last updated: 2026-03-10

Locations

41 sites across 12 countries: United States, Austria, Belgium, Denmark, Germany, Greece, Hungary, Italy, Netherlands, Poland, Slovenia, United Kingdom