Pompe Disease Registry Protocol

Study of Long-Term Health Outcomes in People With Pompe Disease

Gender
All
Phase
N/A
Participants needed
2000
Locations
72
Find a study site near you

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

The purpose of this research study is to collect long-term information about Pompe disease in people who have the condition. The study will track how Pompe disease changes over time and what health outcomes people have, including in people who are treated and people who are not.

Participants will join a registry, which is a program that collects health information over time. The information may be used to better understand Pompe disease and to learn about the long-term effects of a treatment used for Pompe disease.

Who can participate:
People with Pompe disease may be able to participate if they:

  • Have a confirmed diagnosis of Pompe disease based on lab testing (low GAA enzyme activity) and/or genetic testing (two GAA gene changes)
  • Have signed the consent and authorization forms

Updated on 27 Oct 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

Email

View email

Phone

Phone country flag

View phone
Investigator Avatar

Primary Contact

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

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.