Pompe Disease Registry
Genzyme, a Sanofi Company
Summary
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.
Description
Study Design Time Perspective: Retrospective and Prospective
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
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
Locations (272)
- University of Alabama at Birmingham- Site Number : 840106Birmingham, Alabama
- Barrow Neurological Institute- Site Number : 840087Phoenix, Arizona
- Phoenix Children's Hospital- Site Number : 840003Phoenix, Arizona
- University of Arizona- Site Number : 840015Tucson, Arizona
- Arkansas Children's Hospital- Site Number : 840109Little Rock, Arkansas
- University of Arkansas for Medical Sciences- Site Number : 840113Little Rock, Arkansas