Den här översättningen är inte klar ännu. Den här sidan är just nu på engelska.

Gå till den engelska sidan

Cure My Disease

Don't miss your cure!

 Log in / Sign up

Pompe disease patients invited to join worldwide registry

NCT ID NCT06121011

Knowledge-focused Sponsor: Amicus Therapeutics Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study is a global registry that will follow about 500 people with Pompe disease over time. It includes both treated and untreated patients, and aims to collect real-world data on treatment safety, effectiveness, and quality of life. No new treatments are being tested—this is purely an observational study to better understand the disease and its management.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 500 people

The number the study aims to enrol. It can still change while the study runs.

Started

Feb 2024

Expected to finish

Dec 2034

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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)

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for Infantile-onset Pompe disease are added.

Vår säkerhetsrekommendation!

Genom att skicka in godkänner du våra Användarvillkor

Conditions

The condition(s) this trial relates to.

glycogen storage disease due to acid maltase deficiency, infantile onset glycogen storage disease due to acid maltase deficiency, late-onset glycogen storage disease II Glycogen Storage Disease Type II

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Pompe disease

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The study's own enquiry address

    This study publishes an address for enquiries. See it below .

  2. The places running it

    41 sites in 12 countries. The list below names each one and where it is.

  3. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  4. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Study contacts

  • Contact

    Email: •••••@•••••

Locations

  • Aarhus Universitets hospital

    RECRUITING

    Aarhus C, 8000, Denmark

  • Azienda Ospedaliero Universitaria Consorziale Policlinico di Bari

    NOT_YET_RECRUITING

    Bari, 70124, Italy

  • Cambridge University - Addenbrooke's Hospital

    RECRUITING

    Cambridge, CB20QQ, United Kingdom

  • Centre of Expertise for muscular diseases and peripheral neuropathies European Reference Network for Rare Neuromuscular Diseases

    NOT_YET_RECRUITING

    Naples, 80131, Italy

  • Cincinnati Children's Hospital

    RECRUITING

    Cincinnati, Ohio, 45229, United States

  • Department of Neurosciences Rita Levi Montalcini, University of Torino

    NOT_YET_RECRUITING

    Torino, 10126, Italy

  • Dept of Pediatrics Erasmus MC - Sophia Children's Hospital

    NOT_YET_RECRUITING

    Rotterdam, 3015 GD, Netherlands

  • Duke University Medical Center

    RECRUITING

    Durham, North Carolina, 27710, United States

  • Eginition Hospital

    NOT_YET_RECRUITING

    Athens, 115228, Greece

  • Emory University

    RECRUITING

    Atlanta, Georgia, 30322, United States

  • Great Ormond Street Hospital NHS Foundation Trust

    RECRUITING

    London, WC1N 3JH, United Kingdom

  • Indiana University, IU Health Physicians Neurology

    RECRUITING

    Indianapolis, Indiana, 46202, United States

  • Laboratory for Muscle Diseases and Neuropathies

    RECRUITING

    Leuven, 3000, Belgium

  • Lysosomal and Rare Disorders Research and Treatment Center, Inc.

    RECRUITING

    Fairfax, Virginia, 22030, United States

  • Medizinische Universitaet Wien

    NOT_YET_RECRUITING

    Vienna, 1090, Austria

  • NYU Neurogenetics, NYU Langone Medical Center

    RECRUITING

    New York, New York, 10017, United States

  • National Hospital for Neurology and Neurosurgery

    RECRUITING

    London, WC1N 3BG, United Kingdom

  • Queen Elizabeth Hospital Birmingham

    RECRUITING

    Birmingham, B15 2TH, United Kingdom

  • Regional Coordinating Centre for Rare Diseases, university Hospital of Udine, Udine, Italy

    NOT_YET_RECRUITING

    Udine, 33100, Italy

  • Royal Free Hospital NHS Foundation Trust

    RECRUITING

    Manchester, NW3 2QG, United Kingdom

  • Ruhr-Universität Bochum im St. Josef-Hospital

    RECRUITING

    Bochum, 44791, Germany

  • Salford Royal NHS Foundation Trust

    RECRUITING

    Salford, M6 8HD, United Kingdom

  • SphinCS, Institute of Clinical Science in LSD

    RECRUITING

    Höchheim, 265239, Germany

  • UPMC Children's Hospital of Pittsburgh

    RECRUITING

    Pittsburgh, Pennsylvania, 15224, United States

  • Universitaetsklinikum Ulm

    NOT_YET_RECRUITING

    Ulm, 89081, Germany

  • Universitat Munchen - Friedrich Baur Institut

    RECRUITING

    München, 80336, Germany

  • University Hospital of Wales

    RECRUITING

    Cardiff, CF14 4XW, United Kingdom

  • University Hospital of Wales, Cardiff

    RECRUITING

    Cardiff, CF14 4XW, United Kingdom

  • University Medical Centre Ljubljana, Institute of Clinical Neurophysiology

    NOT_YET_RECRUITING

    Ljubljana, 1000, Slovenia

  • University of Arkansas Medical Science

    RECRUITING

    Little Rock, Arkansas, 72205, United States

  • University of California Irvine

    RECRUITING

    Irvine, California, 92697, United States

  • University of Cincinnati Medical Center

    RECRUITING

    Cincinnati, Ohio, 45219, United States

  • University of Pennsylvania Perelman Center for Advanced Medicine

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

  • University of Pittsburgh

    RECRUITING

    Pittsburgh, Pennsylvania, 15219, United States

  • University of Pécs

    NOT_YET_RECRUITING

    Pécs, 7622, Hungary

  • University of Szeged, Szent-Györgyi Albert Clinical Center

    NOT_YET_RECRUITING

    Szeged, 6722, Hungary

  • University of Utah

    RECRUITING

    Salt Lake City, Utah, 84108, United States

  • Universitätsklinikum Gießen und Marburg GmhH

    RECRUITING

    Marburg, 35043, Germany

  • Washington University School of Medicine

    RECRUITING

    St Louis, Missouri, 63110, United States

  • Wolfson Children's Hospital

    RECRUITING

    Jacksonville, Florida, 32207, United States

  • entrum Medyczne Medyk

    NOT_YET_RECRUITING

    Rzeszów, 35-055, Poland

More trials for these conditions

Other studies related to the condition(s) this trial covers.