Pompe Disease Registry Protocol

Investigating the Natural History and Outcomes of Pompe Disease

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

This study investigates Pompe disease. It is a global program designed to track the disease's natural history and outcomes in patients.

The study evaluates the variability, progression, and identification of Pompe disease, as well as the effectiveness of therapeutic interventions.

  • Who can participate: Individuals of any age with a confirmed diagnosis of Pompe disease, evidenced by documented GAA enzyme deficiency or two GAA gene mutations, can participate.
  • Study details: Participants will be part of a registry that collects data over time to better understand Pompe disease and its treatment. The study does not involve any specific treatment or placebo administration.
Updated on 19 Jun 2026. Study ID: NCT00231400

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