Pompe Disease Registry Protocol

Research Study on the Natural History and Outcomes of Pompe Disease

Recruiting
All
Phase N/A
2000 participants needed
84 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 20 Nov 2024. Study ID: NCT00231400

This study investigates Pompe disease, a rare genetic disorder that affects the body's ability to break down a complex sugar called glycogen. The purpose of this study is to understand how Pompe disease progresses over time and how it varies among patients. This includes looking at patients who receive treatment and those who do not, to gather comprehensive data on the disease's natural history.

Participants in this study will have their medical data collected and analyzed to evaluate the effectiveness of various treatments over time. This includes tracking the long-term outcomes of patients and providing information to help improve patient care. The study uses both retrospective and prospective approaches, meaning it looks at past data and collects new data moving forward.

  • Who can participate: All individuals with a confirmed diagnosis of Pompe disease, as shown by specific enzyme deficiency or genetic mutations, are eligible. Participants must provide informed consent to join the study.
  • Study details: Participants will have their medical information collected to track the progression and outcomes of Pompe disease. This data helps understand the disease better and aids in developing recommendations for patient care. There is no active treatment or placebo given as part of this study.

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