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Global registry for patients with Pompe disease

A Global Prospective Observational Registry of Patients With Pompe Disease

Observational Amicus Therapeutics · NCT06121011

This study is collecting information from people with Pompe disease to see how well current treatments work and how they affect daily life, including both those who are being treated and those who aren't.

Quick facts

Study typeObservational
Enrollment500 (estimated)
SexAll
SponsorAmicus Therapeutics Industry-sponsored
Locations41 sites (Little Rock, Arkansas and 40 other locations)
Trial IDNCT06121011 on ClinicalTrials.gov

What this trial studies

This global, multicenter, prospective observational registry aims to gather data on patients with Pompe disease, including both late-onset and infantile-onset forms. It will evaluate the long-term safety and effectiveness of existing treatments, as well as the impact on quality of life and patient-reported outcomes. The registry will include both treated and untreated patients, allowing for a comprehensive understanding of the disease's natural history and treatment effects.

Who should consider this trial

Good fit: Ideal candidates include individuals diagnosed with late-onset or infantile-onset Pompe disease.

Not a fit: Patients currently receiving investigational therapies for Pompe disease in clinical trials or expanded access programs may not benefit from this registry.

Why it matters

Potential benefit: If successful, this registry could provide valuable insights into the long-term safety and effectiveness of treatments for Pompe disease, ultimately improving patient care.

How similar studies have performed: Other observational registries for rare diseases have shown success in providing critical data for treatment evaluation, suggesting this approach could be beneficial.

Eligibility criteria

Show full inclusion / exclusion criteria 
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)

Where this trial is running

Little Rock, Arkansas and 40 other locations

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 Pompe Disease
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.