Pompe Disease Registry Protocol

Study of a Registry to Track Pompe Disease Over Time

Recruiting
All
Phase N/A
2000 participants needed
74 Locations

Study Overview

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.

Study Details

Study Design Time Perspective: Retrospective and Prospective

Eligibility Criteria

You may be eligible for this study if you meet the following criteria:

  • Conditions: Glycogen Storage Disease Type II, Pompe Disease
  • Gender: All

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

The purpose of this research study is to collect information over time about people with Pompe disease. This includes people who are receiving treatment and people who are not. The goal is to better understand how Pompe disease can vary from person to person and how it changes over time.

Participants will join a registry, which is a program that collects health information about a condition. Information from the registry will also be used to understand long-term outcomes for a treatment used for Pompe disease.

Who can participate:
People with Pompe disease may be able to participate if they:

  • Have a confirmed diagnosis of Pompe disease based on testing that shows low GAA enzyme activity and/or two GAA gene changes (mutations)

Updated on 19 Jun 2026. Study ID: NCT00231400

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