A Global Prospective Observational Registry of Patients With Pompe Disease

Amicus Therapeutics

Status

Enrolling

Conditions

Pompe Disease

Treatments

Other: Untreated

Biological: Alglucosidase alfa or Avalglucosidase alfa

Biological: Cipaglucosidase alfa

Drug: Miglustat

Study type

Observational

Funder types

Industry

Identifiers

NCT06121011

POM-005

Details and patient eligibility

About

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

Enrollment

500 estimated patients

Sex

All

Volunteers

No 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)