A Global Prospective Observational Registry of Patients With Pompe Disease

March 9, 2026 updated by: Amicus Therapeutics

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

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

500

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • Austria
      • Vienna, Austria, 1090
        • Not yet recruiting
        • Medizinische Universitaet Wien
  • Belgium
      • Leuven, Belgium, 3000
        • Recruiting
        • Laboratory for Muscle Diseases and Neuropathies
  • Denmark
      • Aarhus C, Denmark, 8000
        • Recruiting
        • Aarhus Universitets Hospital
  • Germany
      • Bochum, Germany, 44791
        • Recruiting
        • Ruhr-Universität Bochum im St. Josef-Hospital
      • Höchheim, Germany, 265239
        • Recruiting
        • SphinCS, Institute of Clinical Science in LSD
      • Marburg, Germany, 35043
        • Recruiting
        • Universitätsklinikum Gießen und Marburg GmhH
      • München, Germany, 80336
        • Recruiting
        • Universitat Munchen - Friedrich Baur Institut
      • Ulm, Germany, 89081
        • Not yet recruiting
        • Universitaetsklinikum Ulm
  • Greece
      • Athens, Greece, 115228
        • Not yet recruiting
        • Eginition Hospital
  • Hungary
      • Pécs, Hungary, 7622
        • Not yet recruiting
        • University of Pecs
      • Szeged, Hungary, 6722
        • Not yet recruiting
        • University of Szeged, Szent-Györgyi Albert Clinical Center
  • Italy
      • Bari, Italy, 70124
        • Not yet recruiting
        • Azienda Ospedaliero Universitaria Consorziale Policlinico di Bari
      • Napoli, Italy, 80131
        • Not yet recruiting
        • Centre of Expertise for muscular diseases and peripheral neuropathies European Reference Network for Rare Neuromuscular Diseases
      • Torino, Italy, 10126
        • Not yet recruiting
        • Department of Neurosciences Rita Levi Montalcini, University of Torino
      • Udine, Italy, 33100
        • Not yet recruiting
        • Regional Coordinating Centre for Rare Diseases, university Hospital of Udine, Udine, Italy
  • Netherlands
      • Rotterdam, Netherlands, 3015 GD
        • Not yet recruiting
        • Dept of Pediatrics Erasmus MC - Sophia Children's Hospital
  • Poland
      • Rzeszów, Poland, 35-055
        • Not yet recruiting
        • entrum Medyczne Medyk
  • Slovenia
      • Ljubljana, Slovenia, 1000
        • Not yet recruiting
        • University Medical Centre Ljubljana, Institute of Clinical Neurophysiology
  • United Kingdom
      • Birmingham, United Kingdom, B15 2TH
        • Recruiting
        • Queen Elizabeth Hospital Birmingham
      • Cambridge, United Kingdom, CB20QQ
        • Recruiting
        • Cambridge University - Addenbrooke's Hospital
      • Cardiff, United Kingdom, CF14 4XW
        • Recruiting
        • University Hospital of Wales
      • Cardiff, United Kingdom, CF14 4XW
        • Recruiting
        • University Hospital of Wales, Cardiff
      • London, United Kingdom, WC1N 3JH
        • Recruiting
        • Great Ormond Street Hospital NHS Foundation Trust
      • London, United Kingdom, WC1N 3BG
        • Recruiting
        • National Hospital For Neurology and Neurosurgery
      • Manchester, United Kingdom, NW3 2QG
        • Recruiting
        • Royal Free Hospital NHS Foundation Trust
      • Salford, United Kingdom, M6 8HD
        • Recruiting
        • Salford Royal NHS Foundation Trust
  • United States
    • Arkansas
      • Little Rock, Arkansas, United States, 72205
        • Recruiting
        • University of Arkansas Medical Science
    • California
      • Irvine, California, United States, 92697
        • Recruiting
        • University of California Irvine
    • Florida
      • Jacksonville, Florida, United States, 32207
        • Recruiting
        • Wolfson Children's Hospital
    • Georgia
      • Atlanta, Georgia, United States, 30322
        • Recruiting
        • Emory University
    • Indiana
      • Indianapolis, Indiana, United States, 46202
        • Recruiting
        • Indiana University, IU Health Physicians Neurology
    • Missouri
      • St Louis, Missouri, United States, 63110
        • Recruiting
        • Washington University School of Medicine
    • New York
      • New York, New York, United States, 10017
        • Recruiting
        • NYU Neurogenetics, NYU Langone Medical Center
    • North Carolina
      • Durham, North Carolina, United States, 27710
        • Recruiting
        • Duke University Medical Center
    • Ohio
      • Cincinnati, Ohio, United States, 45219
        • Recruiting
        • University of Cincinnati Medical Center
      • Cincinnati, Ohio, United States, 45229
        • Recruiting
        • Cincinnati Children's Hospital
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Recruiting
        • University of Pennsylvania Perelman Center for Advanced Medicine
      • Pittsburgh, Pennsylvania, United States, 15224
        • Recruiting
        • UPMC Children's Hospital of Pittsburgh
      • Pittsburgh, Pennsylvania, United States, 15219
        • Recruiting
        • University of Pittsburgh
    • Utah
      • Salt Lake City, Utah, United States, 84108
        • Recruiting
        • University of Utah
    • Virginia
      • Fairfax, Virginia, United States, 22030
        • Recruiting
        • Lysosomal and Rare Disorders Research and Treatment Center, Inc.

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

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.

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Cipaglucosidase alfa/Miglustat-treated patients
Biological: Cipaglucosidase alfa
Enzyme Replacement Therapy (ERT) via intravenous infusion
Other Names:
  • ATB200, Pombiliti
Drug: Miglustat
Participants received ATB200 co-administered with AT2221 (Miglustat)
Other Names:
  • AT2221, Opfolda
Other Enyzme Replacement Therapy (ERT)-treated patients
Biological: Alglucosidase alfa or Avalglucosidase alfa
Patients prescribed other commercially available ERT after local regulatory approval
Other Names:
  • Myozyme, Lumizyme, Nexviazyme, Nexviadyme
Untreated patients (those who are not currently receiving any medical therapy for Pompe disease)
Other: Untreated
Patients who are not currently receiving any medical therapy for Pompe disease.

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Amicus Therapeutics

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 16, 2024

Primary Completion (Estimated)

December 20, 2034

Study Completion (Estimated)

December 20, 2034

Study Registration Dates

First Submitted

November 2, 2023

First Submitted That Met QC Criteria

November 2, 2023

First Posted (Actual)

November 7, 2023

Study Record Updates

Last Update Posted (Actual)

March 10, 2026

Last Update Submitted That Met QC Criteria

March 9, 2026

Last Verified

March 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • POM-005

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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