Pompe Disease Registry Protocol

Pompe Disease Research Study on Disease Progression and Outcomes

Recruiting
All
Phase N/A
2000 participants needed
74 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 study focuses on understanding how Pompe disease progresses and varies among individuals. It also aims to evaluate the long-term outcomes of individuals with this condition, whether they receive treatment or not.

  • Who can participate: Individuals of any age with a confirmed diagnosis of Pompe disease can join the study. Participants must have a documented GAA enzyme deficiency or two GAA gene mutations.
  • Study details: Participants will be observed as part of the study to collect data on their condition. This observational study does not change their treatment but aims to understand the natural progression of Pompe disease.
Updated on 08 Apr 2026. Study ID: NCT00231400

Find a study site near you

We have submitted the contact information you provided to the research team at {{SITE_NAME}}. A copy of the message has been sent to your email for your records.
United States Only: Would you like to be notified about other trials? Sign up for Patient Notification Services.
Sign up

Send a message

Enter your contact details to connect with study team

Investigator Avatar

Primary Contact

First name*
Last name*
Email*
Phone number*
Other language