at San Francisco, California and other locations
study started
estimated completion



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


Study Design Time Perspective: Retrospective and Prospective


Glycogen Storage Disease Type II, Pompe Disease, Glycogen Storage Disease Type II (GSD-II), GSD-II, Pompe Disease (late-onset), Acid Maltase Deficiency Disease, Glycogenosis II, Glycogen Storage Disease, Disease


You can join if…

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.

You CAN'T join if...

There are no exclusion criteria in this Registry


  • University of California at San Francisco-Site Number:840051 accepting new patients
    San Francisco California United States
  • Children's Hospital Oakland-Site Number:840029 completed
    Oakland Virginia 94609 United States
  • Stanford University Pediatrics-Site Number:840021 accepting new patients
    Stanford California 94305 United States


accepting new patients
Start Date
Completion Date
Genzyme, a Sanofi Company
Study Type
Observational [Patient Registry]
Expecting 2000 study participants
Last Updated