Pompe Disease Registry Protocol

Study of Long-Term Health Outcomes in People With Pompe Disease

Gender
All
Phase
N/A
Participants needed
2000
Locations
72
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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. The study will track how the disease changes and what health outcomes people have, including people who are treated and people who are not treated.

Participants will not receive a study treatment as part of this registry. The study will collect information from medical records and ongoing care to better understand Pompe disease and long-term outcomes, including outcomes for people who have received an approved treatment 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 changes (mutations) in the GAA gene
  • Have signed the consent and authorization form(s)

Updated on 28 Oct 2026. Study ID: NCT00231400

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