A Global Prospective Observational Registry of Patients With Pompe Disease
1 other identifier
observational
500
12 countries
41
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
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Feb 2024
Longer than P75 for all trials
41 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
November 2, 2023
CompletedFirst Posted
Study publicly available on registry
November 7, 2023
CompletedStudy Start
First participant enrolled
February 16, 2024
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 20, 2034
ExpectedStudy Completion
Last participant's last visit for all outcomes
December 20, 2034
March 10, 2026
March 1, 2026
10.8 years
November 2, 2023
March 9, 2026
Conditions
Outcome Measures
Primary Outcomes (1)
Evaluate long-term safety of Pompe disease treatments
Data collection that describe the frequency of AEs/SAEs occurring in Pompe disease patients
5 years
Study Arms (3)
Cipaglucosidase alfa/Miglustat-treated patients
Other Enyzme Replacement Therapy (ERT)-treated patients
Untreated patients (those who are not currently receiving any medical therapy for Pompe disease)
Interventions
Enzyme Replacement Therapy (ERT) via intravenous infusion
Participants received ATB200 co-administered with AT2221 (Miglustat)
Patients prescribed other commercially available ERT after local regulatory approval
Patients who are not currently receiving any medical therapy for Pompe disease.
Eligibility Criteria
The study population in this registry will consist of patients with a diagnosis of Pompe disease (LOPD or IOPD) based on documented deficiency of acid α-glucosidase (GAA) enzyme activity and/or GAA genotyping, regardless of time since diagnosis.
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)
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (41)
University of Arkansas Medical Science
Little Rock, Arkansas, 72205, United States
University of California Irvine
Irvine, California, 92697, United States
Wolfson Children's Hospital
Jacksonville, Florida, 32207, United States
Emory University
Atlanta, Georgia, 30322, United States
Indiana University, IU Health Physicians Neurology
Indianapolis, Indiana, 46202, United States
Washington University School of Medicine
St Louis, Missouri, 63110, United States
NYU Neurogenetics, NYU Langone Medical Center
New York, New York, 10017, United States
Duke University Medical Center
Durham, North Carolina, 27710, United States
University of Cincinnati Medical Center
Cincinnati, Ohio, 45219, United States
Cincinnati Children's Hospital
Cincinnati, Ohio, 45229, United States
University of Pennsylvania Perelman Center for Advanced Medicine
Philadelphia, Pennsylvania, 19104, United States
University of Pittsburgh
Pittsburgh, Pennsylvania, 15219, United States
UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224, United States
University of Utah
Salt Lake City, Utah, 84108, United States
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Fairfax, Virginia, 22030, United States
Medizinische Universitaet Wien
Vienna, 1090, Austria
Laboratory for Muscle Diseases and Neuropathies
Leuven, 3000, Belgium
Aarhus Universitets hospital
Aarhus C, 8000, Denmark
Ruhr-Universität Bochum im St. Josef-Hospital
Bochum, 44791, Germany
SphinCS, Institute of Clinical Science in LSD
Höchheim, 265239, Germany
Universitätsklinikum Gießen und Marburg GmhH
Marburg, 35043, Germany
Universitat Munchen - Friedrich Baur Institut
München, 80336, Germany
Universitaetsklinikum Ulm
Ulm, 89081, Germany
Eginition Hospital
Athens, 115228, Greece
University of Pécs
Pécs, 7622, Hungary
University of Szeged, Szent-Györgyi Albert Clinical Center
Szeged, 6722, Hungary
Azienda Ospedaliero Universitaria Consorziale Policlinico di Bari
Bari, 70124, Italy
Centre of Expertise for muscular diseases and peripheral neuropathies European Reference Network for Rare Neuromuscular Diseases
Naples, 80131, Italy
Department of Neurosciences Rita Levi Montalcini, University of Torino
Torino, 10126, Italy
Regional Coordinating Centre for Rare Diseases, university Hospital of Udine, Udine, Italy
Udine, 33100, Italy
Dept of Pediatrics Erasmus MC - Sophia Children's Hospital
Rotterdam, 3015 GD, Netherlands
entrum Medyczne Medyk
Rzeszów, 35-055, Poland
University Medical Centre Ljubljana, Institute of Clinical Neurophysiology
Ljubljana, 1000, Slovenia
Queen Elizabeth Hospital Birmingham
Birmingham, B15 2TH, United Kingdom
Cambridge University - Addenbrooke's Hospital
Cambridge, CB20QQ, United Kingdom
University Hospital of Wales, Cardiff
Cardiff, CF14 4XW, United Kingdom
University Hospital of Wales
Cardiff, CF14 4XW, United Kingdom
National Hospital for Neurology and Neurosurgery
London, WC1N 3BG, United Kingdom
Great Ormond Street Hospital NHS Foundation Trust
London, WC1N 3JH, United Kingdom
Royal Free Hospital NHS Foundation Trust
Manchester, NW3 2QG, United Kingdom
Salford Royal NHS Foundation Trust
Salford, M6 8HD, United Kingdom
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Target Duration
- 5 Years
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
November 2, 2023
First Posted
November 7, 2023
Study Start
February 16, 2024
Primary Completion (Estimated)
December 20, 2034
Study Completion (Estimated)
December 20, 2034
Last Updated
March 10, 2026
Record last verified: 2026-03
Data Sharing
- IPD Sharing
- Will not share