Pompe Disease Registry Protocol


Trial ID: NCT00231400


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.

Official Title

Pompe Disease Registry

Stanford Investigator(s)

John W. Day, MD, PhD
John W. Day, MD, PhD

Professor of Neurology (Adult Neurology), of Pediatrics (Genetics) and, by courtesy, of Pathology


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


Contact Information

Stanford University
School of Medicine
300 Pasteur Drive
Stanford, CA 94305