Pompe Disease Registry Protocol

Investigation of Disease Progression and Outcomes in a Genetic Disorder

Recruiting
All
Phase N/A
2000 participants needed
3 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, a rare genetic disorder. The purpose of this observational study is to track the disease's natural history and outcomes in patients, both those receiving treatment and those who are not. An observational study is a type of research study where data is collected by observing participants receiving routine care, without changing their treatment, which may focus on people using specific medications or having certain conditions to better understand how treatments work.

The study involves collecting data from patients with Pompe disease to enhance understanding of the disease's variability, progression, and natural history. This information will help in developing recommendations for monitoring patients and optimizing their care. The study also aims to evaluate the long-term effectiveness of treatments such as alglucosidase alfa.

  • Who can participate: Patients of any age with a confirmed diagnosis of Pompe disease, documented by GAA enzyme deficiency or two GAA gene mutations, can participate. Participants must sign an informed consent form.
  • Study details: Participants will be observed as part of their routine care, with data collected on their disease progression and outcomes. No specific treatment or intervention is required as part of the study.
Updated on 29 Oct 2025. Study ID: NCT00231400

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