Who may be eligible for the Pompe Disease Registry Protocol trial?

Inclusion Criteria: All patients with a confirmed diagnosis of Pompe disease who have signed the informed consent and authorization form(s) are eligible for inclusion. Confirmed diagnosis is defined as documented GAA enzyme deficiency from blood, skin, or muscle tissue and/or documentation of 2 GAA gene mutations. Exclusion Criteria: There are no exclusion criteria in this Registry

ClinicalTrials.gov record NCT00231400

Pompe Disease Registry Protocol

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

Pompe Disease Registry

About this page. This page shows the study's official ClinicalTrials.gov record ↗, with added help to make it easier to understand. We explain medical terms, highlight key details in plain language, and suggest questions you may want to ask the study team.

The record is periodically copied from ClinicalTrials.gov and may lag behind changes. AI summaries are checked by software, not a clinician.Read moreShow less

The official record is written by the study sponsor and published on ClinicalTrials.gov. It may not always reflect the latest changes. Before making any decisions, please confirm important information with the study team and your own healthcare team.

Where you see "AI summary", AI was used to create a plain-language explanation and software checked it against the source. It has not been reviewed by a clinician, so it may contain mistakes or leave out important details.

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.

Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.

SexAll

LocationArgentina, Australia, Belgium, Brazil, Bulgaria, Canada, Chile, China, Colombia, Croatia, Czechia, Denmark, France, Germany, Greece, Hong Kong, Hungary, India, Indonesia, Israel, Italy, Japan, Jordan, Kuwait, Lebanon, Malaysia, Netherlands, Pakistan, Philippines, Poland, Portugal, Romania, Russia, Saudi Arabia, Serbia, Singapore, Slovakia, South Korea, Taiwan, Thailand, United Arab Emirates, United Kingdom, United States, Vietnam

AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

A voluntary, international registry that collects medical information from people with confirmed Pompe disease. It combines past (retrospective) and future (prospective) clinical data and follows participants over time. Data are used for research, regulatory commitments, and to evaluate long-term outcomes including the effectiveness of alglucosidase alfa.

What it is studying. The registry aims to learn how Pompe disease varies and progresses, to describe the Pompe disease population, and to evaluate long-term outcomes including the long-term effectiveness of alglucosidase alfa.

What the researchers hope to learn. To enhance understanding of the variability, progression, identification, and natural history of Pompe disease; to assist the medical community in developing monitoring recommendations; to characterize the Pompe disease population; and to evaluate the long-term effectiveness of alglucosidase alfa.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

The Pompe Registry is a global, multicenter, international, longitudinal, observational, and voluntary program for patients with Pompe disease, designed to track the disease's natural history and outcomes in patients, both treated and not. Data from the Registry are also used to fulfill various global regulatory commitments, to support product development/reimbursement, and for other research and non-research related purposes. The objectives of the Registry are:

To enhance understanding of the variability, progression, identification, and natural history of Pompe disease, with the ultimate goal of better guiding and assessing therapeutic intervention.
To assist the Pompe medical community with the development of recommendations for monitoring patients, and to provide reports on patient outcomes, to optimize patient care.
To characterize the Pompe disease population.
To evaluate the long-term effectiveness of alglucosidase alfa.

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

All patients with a confirmed diagnosis of Pompe disease who have signed the informed consent and authorization form(s) are eligible for inclusion. Confirmed diagnosis is defined as documented GAA enzyme deficiency from blood, skin, or muscle tissue and/or documentation of 2 GAA gene mutations.

Exclusion criteria

There are no exclusion criteria in this Registry

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

Study Design Time Perspective: Retrospective and Prospective

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants provide informed consent and allow the Registry to collect their past medical records and ongoing clinical information about Pompe disease. The Registry includes both retrospective (past) and prospective (future) data collection and has a target active follow-up of about 5 years, with some outcomes tracked up to 30 years. No study-specific invasive procedures are listed in the record; participation mainly involves sharing clinical data and follow-up information for research and regulatory reporting purposes.

How the study is structured. An observational, longitudinal registry that does not assign treatments. It collects existing medical records and ongoing follow-up information (retrospective and prospective) on a cohort of people with confirmed Pompe disease, with a target duration of 5 years.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
The listed sites are in Argentina, Australia, Belgium, Brazil, Bulgaria, Canada, Chile, China, Colombia, Croatia, Czechia, Denmark, France, Germany, Greece, Hong Kong, Hungary, India, Indonesia, Israel, Italy, Japan, Jordan, Kuwait, Lebanon, Malaysia, Netherlands, Pakistan, Philippines, Poland, Portugal, Romania, Russia, Saudi Arabia, Serbia, Singapore, Slovakia, South Korea, Taiwan, Thailand, United Arab Emirates, United Kingdom, United States, Vietnam. Is any of them reachable for me, and does the study help with travel?
Which of the eligibility criteria would need to be checked with tests before I could join?

More on Pompe disease

Clinical trials32 trials listed for Pompe diseaseEvery trial the registry lists for Pompe disease, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Pompe disease researchLatest monthly update: September 2026. Includes: Antibody effects. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start: Sep 15, 2004
Primary completion: Jan 31, 2034 (estimated)
Study completion: Jan 31, 2034 (estimated)
Target enrollment: 2000 participants (estimated)
Last updated on registry: Jun 23, 2026
Data verified: Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor: Genzyme, a Sanofi Company

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Trial Transparency email recommended (Toll free number for US & Canada) 📞 800-633-1610 ext. option 6 ✉ contact-us@sanofi.com
Pompe Registry HelpLine 📞 617-591-5500

Participating sites (272)

Filter by country:

University of Alabama at Birmingham- Site Number : 840106Recruiting
Birmingham, Alabama, 35233 · United States
Barrow Neurological Institute- Site Number : 840087Recruiting
Phoenix, Arizona, 85013 · United States
Phoenix Children's Hospital- Site Number : 840003Recruiting
Phoenix, Arizona, 85016 · United States
University of Arizona- Site Number : 840015Recruiting
Tucson, Arizona, 85724 · United States
Arkansas Children's Hospital- Site Number : 840109Recruiting
Little Rock, Arkansas, 72202 · United States
University of Arkansas for Medical Sciences- Site Number : 840113Recruiting
Little Rock, Arkansas, 72205 · United States
University of California at Irvine- Site Number : 840036Recruiting
Irvine, California, 90211 · United States
Loma Linda University- Genetics- Site Number : 840070Completed
Loma Linda, California, 92354 · United States
Southern California Permanente Medical Group- Site Number : 840108Recruiting
Los Angeles, California, 90027 · United States
USC Health Sciences Center Dept of Genetics- Site Number : 840082Completed
Los Angeles, California, 90033 · United States

Terms used on this page · explanations by MedicalUpdates.ai

Registry: An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment.
natural history: A study that follows how a condition changes over time without assigning an experimental treatment. It may involve study visits and tests, and is often used to plan future trials.
informed consent: The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
exclusion criteria: The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
Inclusion Criteria: The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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