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Pompe Disease Registry Protocol

Pompe Disease Registry

Important: This information is not medical advice. Talk to your doctor about whether a clinical trial is right for you.

About This Trial

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.

Who May Be Eligible (Plain English)

Who May Qualify: All patients with a confirmed diagnosis of Pompe disease who have signed the willing to sign a consent form 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. Who Should NOT Join This Trial: There are no exclusion criteria in this Registry Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language
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 (20)

University Alabama at Birmingham- Site Number : 840106
Birmingham, Alabama, United States
Barrow Neurological Institute- Site Number : 840087
Phoenix, Arizona, United States
Phoenix Children's Hospital- Site Number : 840003
Phoenix, Arizona, United States
University of Arizona- Site Number : 840015
Tucson, Arizona, United States
Arkansas Childrens Hospital- Site Number : 840109
Little Rock, Arkansas, United States
University of Arkansas for Medical Sciences- Site Number : 840113
Little Rock, Arkansas, United States
University of California at Irvine- Site Number : 840036
Irvine, California, United States
Loma Linda University- Genetics- Site Number : 840070
Loma Linda, California, United States
Southern California Permanente Medical Group- Site Number : 840108
Los Angeles, California, United States
USC Health Sciences Center Dept of Genetics- Site Number : 840082
Los Angeles, California, United States
Children's Hospital Oakland- Site Number : 840029
Oakland, California, United States
Children's Hospital of Orange County- Site Number : 840074
Orange, California, United States
UC Davis MIND Institute- Site Number : 840010
Sacramento, California, United States
University of California at San Diego- Site Number : 840007
San Diego, California, United States
University of California at San Francisco- Site Number : 840051
San Francisco, California, United States
Stanford University Pediatrics- Site Number : 840021
Stanford, California, United States
Children's Hospital Colorado - Aurora- Site Number : 840069
Aurora, Colorado, United States
Yale - Site Number : 840047
New Haven, Connecticut, United States
Children's National Medical Center- Site Number : 840067
Washington D.C., District of Columbia, United States
University of Florida College of Medicine- Site Number : 840012
Gainesville, Florida, United States