Pompe Disease Registry Protocol

Observational Study of Pompe Disease Outcomes

Recruiting
All
Phase N/A
2000 participants needed
64 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

Updated on 01 Feb 2024. Study ID: NCT00231400

This study investigates Pompe disease, a rare genetic disorder that affects the muscles and other tissues in the body. The purpose of this study is to understand how Pompe disease progresses over time in patients who are receiving treatment and in those who are not. The study will collect data to help doctors learn more about the disease and improve care for patients.

Participants will undergo various assessments to track the progression of Pompe disease. These assessments may include tests to measure enzyme levels in the blood, skin, or muscle tissue, as well as genetic tests to identify mutations in the GAA gene, which are associated with Pompe disease. The study does not involve any new treatments, but rather observes the outcomes of patients receiving standard care.

  • Who can participate: Patients of any age with a confirmed diagnosis of Pompe disease can participate. A confirmed diagnosis includes a documented GAA enzyme deficiency or two GAA gene mutations. Participants must sign an informed consent form.
  • Study details: Participants will provide information about their health and undergo assessments to track the disease's progression. The study will observe patients who are receiving standard care. There is no placebo involved in this study.

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