Pompe Disease Registry Protocol

Research Study on Pompe Disease Progression and Outcomes

Recruiting
All
Phase N/A
2000 participants needed
148 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 the progression and outcomes of Pompe disease, a rare genetic disorder. Pompe disease affects the body's ability to break down glycogen, leading to muscle weakness and respiratory issues. The purpose of this study is to understand how the disease progresses over time in patients, both those receiving treatment and those who are not.

Participants in the study will have their medical data collected over time to help researchers track the natural history of Pompe disease. This includes information on the variability and progression of the disease, as well as patient outcomes. The study also aims to evaluate the effectiveness of treatment options for Pompe disease.

  • Who can participate: Patients of any age with a confirmed diagnosis of Pompe disease can participate. A confirmed diagnosis requires documentation of GAA enzyme deficiency or two GAA gene mutations.
  • Study details: This is an observational study where participants provide medical data over time to help researchers understand Pompe disease. This involves tracking disease progression and outcomes, as well as evaluating treatment effectiveness.

Find a Study Location to Connect

What happens next?
  • You can expect the study team to contact you via email or phone in the next few days.
  • Sign up as volunteer  to help accelerate the development of new treatments and to get notified about similar trials.

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