A Global Prospective Observational Registry of Patients With Pompe Disease

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT06121011

Enrollment

500

Registered

2023-11-07

Start date

2024-02-16

Completion date

2034-12-20

Last updated

2026-03-10

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Pompe Disease

Brief 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

Interventions

BIOLOGICALCipaglucosidase alfa

Enzyme Replacement Therapy (ERT) via intravenous infusion

DRUGMiglustat

Participants received ATB200 co-administered with AT2221 (Miglustat)

BIOLOGICALAlglucosidase alfa or Avalglucosidase alfa

Patients prescribed other commercially available ERT after local regulatory approval

OTHERUntreated

Patients who are not currently receiving any medical therapy for Pompe disease.

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Inclusion criteria

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

Exclusion criteria

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

Design outcomes

Primary

Measure	Time frame	Description
Evaluate long-term safety of Pompe disease treatments	5 years	Data collection that describe the frequency of AEs/SAEs occurring in Pompe disease patients

Countries

Austria, Belgium, Denmark, Germany, Greece, Hungary, Italy, Netherlands, Poland, Slovenia, United Kingdom, United States

Contacts

CONTACTFor Site

patientadvocacy@amicusrx.com609-662-2000

CONTACTFor Patient