Pompe Disease Registry Protocol

Recruiting now

Conditions studied: Glycogen Storage Disease Type II, Pompe Disease

In brief

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.

Key facts

Study ID

NCT00231400

Run by

Genzyme, a Sanofi Company

People needed

2000

Starts

2004-09-15

Expected to finish

2034-01-31

Last updated by the study team

2026-06-23

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify 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 may not qualify if…

• There are no exclusion criteria in this Registry

Where it is running

• Rush University Medical Center Genetics- Site Number : 840079 — Chicago, Illinois, United States (enrolling)
• Indianapolis University School of Medicine- Site Number : 840027 — Indianapolis, Indiana, United States (enrolling)
• Ann & Robert H. Lurie Children's Hospital of Chicago- Site Number : 840011 — Chicago, Illinois, United States (enrolling)
• Ann & Robert H. Lurie Children's Hospital of Chicago- Site Number : 840013 — Chicago, Illinois, United States (enrolling)
• University of Arkansas for Medical Sciences- Site Number : 840113 — Little Rock, Arkansas, United States (enrolling)
• Phoenix Children's Hospital- Site Number : 840003 — Phoenix, Arizona, United States (enrolling)
• Barrow Neurological Institute- Site Number : 840087 — Phoenix, Arizona, United States (enrolling)
• Southern California Permanente Medical Group- Site Number : 840108 — Los Angeles, California, United States (enrolling)
• Arkansas Children's Hospital- Site Number : 840109 — Little Rock, Arkansas, United States (enrolling)
• University of Alabama at Birmingham- Site Number : 840106 — Birmingham, Alabama, United States (enrolling)
• Children's Hospital of Orange County- Site Number : 840074 — Orange, California, United States (enrolling)
• UC Davis MIND Institute- Site Number : 840010 — Sacramento, California, United States (enrolling)
• University of California at Irvine- Site Number : 840036 — Irvine, California, United States (enrolling)
• University of California San Francisco - Parnassus Campus- Site Number : 840051 — San Francisco, California, United States (enrolling)
• Stanford University Pediatrics- Site Number : 840021 — Stanford, California, United States (enrolling)
• University of Arizona- Site Number : 840015 — Tucson, Arizona, United States (enrolling)
• Yale University School of Medicine- Site Number : 840047 — New Haven, Connecticut, United States (enrolling)
• Children's National Medical Center - Washington- Site Number : 840067 — Washington D.C., District of Columbia, United States (enrolling)
• University of Miami- Site Number : 840006 — Coral Gables, Florida, United States (enrolling)
• University of Florida College of Medicine- Site Number : 840012 — Gainesville, Florida, United States (enrolling)
• University of Florida Pediatrics Genetics- Site Number : 840121 — Jacksonville, Florida, United States (enrolling)
• University of Florida-Genetics- Site Number : 840096 — Tampa, Florida, United States (enrolling)
• Emory University School of Medicine- Human Genetics- Site Number : 840060 — Decatur, Georgia, United States (enrolling)
• University of Colorado at Denver Genetics- Site Number : 840068 — Aurora, Illinois, United States (enrolling)
• University of Iowa- Site Number : 840032 — Iowa City, Iowa, United States (enrolling)

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.