A Global Prospective Observational Registry of Patients With Pompe Disease

Recruiting

• Conditions: Pompe Disease
• Interventions: Other: Untreated; Biological: Alglucosidase alfa or Avalglucosidase alfa; Biological: Cipaglucosidase alfa; Drug: Miglustat

• Registration Number: NCT06121011
• Lead Sponsor: Amicus Therapeutics

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

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2023-11-02
• Study First Submitted QC: 2023-11-02
• Study First Posted: 2023-11-07
• Study Start: 2024-02-16
• Status Verified: 2025-07
• Last Update Submitted: 2025-07-02
• Last Update Posted: 2025-07-03
• Primary Completion: 2034-12-20
• Study Completion: 2034-12-20

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 500

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)

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Cipaglucosidase alfa/Miglustat-treated patients	Miglustat	-
Untreated patients (those who are not currently receiving any medical therapy for Pompe disease)	Untreated	-
Other Enyzme Replacement Therapy (ERT)-treated patients	Alglucosidase alfa or Avalglucosidase alfa	-
Cipaglucosidase alfa/Miglustat-treated patients	Cipaglucosidase alfa	-

Primary Outcome Measures

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

Trial Locations

Locations (25)

University of Arkansas Medical Science; 🇺🇸 Little Rock, Arkansas, United States

University of California Irvine; 🇺🇸 Irvine, California, United States

Wolfson Children's Hospital; 🇺🇸 Jacksonville, Florida, United States

Emory University; 🇺🇸 Atlanta, Georgia, United States

Indiana University, IU Health Physicians Neurology; 🇺🇸 Indianapolis, Indiana, United States

Washington University School of Medicine; 🇺🇸 Saint Louis, Missouri, United States

NYU Neurogenetics, NYU Langone Medical Center; 🇺🇸 New York, New York, United States

Duke University Medical Center; 🇺🇸 Durham, North Carolina, United States

University of Cincinnati Medical Center; 🇺🇸 Cincinnati, Ohio, United States

Cincinnati Children's Hospital; 🇺🇸 Cincinnati, Ohio, United States

Scroll for more (15 remaining)