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Pompe Disease Registry Protocol

Pompe Disease Registry

Who can join

All ages · All sexes

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

About the study

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.

Sponsor: Genzyme, a Sanofi Company · Participants: 2,000 · Started: Sep 15, 2004

Contact the study team

• Trial Transparency email recommended (Toll free number for US & Canada) · Phone: 800-633-1610
• Pompe Registry HelpLine · Phone: 617-591-5500

Official record on ClinicalTrials.gov — NCT00231400

Locations in the U.S.

Conditions

• Glycogen Storage Disease Type II

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.