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Global registry for tracking Pompe disease outcomes

Pompe Disease Registry

Observational Sanofi · NCT00231400

This study is tracking the health and progress of people with Pompe disease to learn more about how it affects them and to see how well treatments are working.

Quick facts

Study typeObservational
Enrollment2000 (estimated)
SexAll
SponsorSanofi Industry-sponsored
Locations272 sites (Birmingham, Alabama and 271 other locations)
Trial IDNCT00231400 on ClinicalTrials.gov

What this trial studies

The Pompe Registry is an international, longitudinal program that collects data on patients with Pompe disease to understand its natural history and outcomes. It includes both treated and untreated patients and aims to enhance knowledge about the disease's variability and progression. The registry also supports the development of monitoring recommendations and evaluates the long-term effectiveness of treatments like alglucosidase alfa. Data collected will fulfill regulatory commitments and aid in product development and reimbursement.

Who should consider this trial

Good fit: Ideal candidates for this registry are patients with a confirmed diagnosis of Pompe disease who have provided informed consent.

Not a fit: Patients without a confirmed diagnosis of Pompe disease will not benefit from this registry.

Why it matters

Potential benefit: If successful, this registry could lead to improved patient care and more effective treatments for Pompe disease.

How similar studies have performed: Other registries for rare diseases have shown success in improving understanding and treatment outcomes, making this approach promising.

Eligibility criteria

Show full inclusion / exclusion criteria 
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

Where this trial is running

Birmingham, Alabama and 271 other locations

+222 more sites — see ClinicalTrials.gov for the full list.

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions Glycogen Storage Disease Type IIPompe DiseaseGSD-IIAcid Maltase Deficiency DiseaseGlycogenosis II
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.