Pompe Disease Registry Protocol

Investigating the Natural History and Outcomes of Pompe Disease, a Rare Genetic Disorder

Recruiting
All
Phase N/A
2000 participants needed
146 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 21 May 2025. Study ID: NCT00231400

This study investigates the natural history and outcomes of Pompe disease, a rare genetic disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The purpose of this study is to enhance understanding of the variability, progression, and identification of Pompe disease, while also characterizing the affected population. 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.

Participants in this study will not undergo any specific treatment as part of the study procedures. Instead, data will be collected on their health outcomes over time, both for those receiving treatment and those who are not. This data collection aims to assist the medical community in developing monitoring recommendations and improving patient care.

  • Who can participate: Patients of any age with a confirmed diagnosis of Pompe disease are eligible to participate. This includes individuals who have documented GAA enzyme deficiency or two GAA gene mutations and have signed the informed consent form.
  • Study details: Participants will contribute data about their health and disease progression over time, which will be used for research and to inform future therapeutic interventions. No specific treatments are provided as part of the study.

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