Taking people in United StatesNo phase

Pompe Disease Registry Protocol

Key facts

Where: Ann Arbor, Aurora, Baltimore, Birmingham, Boston, Camden, Charlotte, Charlottesville, Chicago, Cincinnati, Cleveland, Columbia, Columbus, Coral Gables, Dallas, Decatur, Detroit, Dublin, Durham, Fairfax, Fort Worth, Gainesville, Grand Rapids, Greenville, Hackensack, Helena, Hershey, Huntington, Indianapolis, Iowa City, Jacksonville, Kansas City, Las Vegas, Little Rock, Loma Linda, Los Angeles, Louisville, Milwaukee, Minneapolis, Morristown, Nashville, New Brunswick, New Haven, New Hyde Park, New Orleans, New York, Norfolk, Oakland, Omaha, Orange, Paterson, Philadelphia, Phoenix, Pittsburgh, Portland, Providence, Rochester, Sacramento, Salt Lake City, San Bernardino, San Diego, San Francisco, Seattle, South Burlington, Springfield, St Louis, Stanford, Syracuse, Tacoma, Tampa, Tucson, Valhalla, and Washington D.C., United StatesSee the 98 sites

Where in United States

University Of Michigan Pediatrics- Site Number : 840107Ann Arbor, United StatesTaking people
University Of Colorado At Denver Genetics- Site Number : 840068Aurora, United StatesTaking people
Children's Hospital Colorado - Aurora- Site Number : 840069Aurora, United StatesNo longer taking part
BaltimoreBaltimore, United StatesNo longer taking part
University of Alabama at Birmingham- Site Number : 840106Birmingham, United StatesTaking people
Boston Children's Hospital- Site Number : 840092Boston, United StatesTaking people
Massachusetts General Hospital-Genetics- Site Number : 840062Boston, United StatesTaking people
Cooper Health Center- Site Number : 840098Camden, United StatesNo longer taking part
Atrium Health Carolinas Medical Center Hospital- Site Number : 840065Charlotte, United StatesTaking people
University Of Virginia School Of Medicine-Pediatrics- Site Number : 840078Charlottesville, United StatesNo longer taking part
Ann & Robert H. Lurie Children's Hospital of Chicago- Site Number : 840011Chicago, United StatesTaking people
Ann & Robert H. Lurie Children's Hospital of Chicago- Site Number : 840013Chicago, United StatesTaking people
Rush University Medical Center Genetics- Site Number : 840079Chicago, United StatesTaking people
Cincinnati Children's Hospital Medical Center (Cincinnati Children's Hospital)- Site Number : 840041Cincinnati, United StatesTaking people
Cleveland Clinic - Cleveland- Site Number : 840048Cleveland, United StatesTaking people
University Hospitals Cleveland Medical Center- Site Number : 840119Cleveland, United StatesTaking people
University Of Missouri Health System Department Of Genetics- Site Number : 840031Columbia, United StatesTaking people
Nationwide Children's Hospital- Site Number : 840091Columbus, United StatesTaking people
University of Miami- Site Number : 840006Coral Gables, United StatesTaking people
Baylor Institute of Metabolic Disease- Site Number : 840058Dallas, United StatesTaking people
Emory University School Of Medicine- Human Genetics- Site Number : 840060Decatur, United StatesTaking people
Children's Hospital of Michigan- Site Number : 840066Detroit, United StatesTaking people
Lsd Data Registry Site Llc- Site Number : 840094Dublin, United StatesTaking people
Duke University Medical Center Genetics Dept- Site Number : 840037Durham, United StatesTaking people
O & O Alpan- Site Number : 840025Fairfax, United StatesTaking people
Cook Children's Medical Center- Site Number : 840024Fort Worth, United StatesNo longer taking part
University of Florida College of Medicine- Site Number : 840012Gainesville, United StatesTaking people
Infusion Associates - Grand Rapids- Site Number : 840050Grand Rapids, United StatesTaking people
Corewell Health - Helen DeVos Children's Hospital (HDVCH)- Site Number : 840019Grand Rapids, United StatesNo longer taking part
Greenwood Genetic Center - Greenville- Site Number : 840055Greenville, United StatesTaking people
Hackensack Meridian Health - Hackensack University Medical Center- Site Number : 840101Hackensack, United StatesTaking people
Shodair Children'S Hospital- Site Number : 840090Helena, United StatesNo longer taking part
Penn State Health Milton South Hershey Medical Center- Site Number : 840061Hershey, United StatesNo longer taking part
NYU Langone Health - Perlmutter Cancer Center - Huntington- Site Number : 840040Huntington, United StatesTaking people
Indianapolis University School Of Medicine- Site Number : 840027Indianapolis, United StatesTaking people
University of Iowa- Site Number : 840032Iowa City, United StatesTaking people
University Of Florida Pediatrics Genetics- Site Number : 840121Jacksonville, United StatesTaking people
The Atwal Clinic- Site Number : 840112Jacksonville, United StatesNo longer taking part
University of Kansas Medical Center- Site Number : 840020Kansas City, United StatesTaking people
Children's Mercy Adelle Hall Campus- Site Number : 840063Kansas City, United StatesNo longer taking part
Children's Specialty Center - Las Vegas- Site Number : 840008Las Vegas, United StatesTaking people
Arkansas Children's Hospital- Site Number : 840109Little Rock, United StatesTaking people
University of Arkansas for Medical Sciences- Site Number : 840113Little Rock, United StatesTaking people
Loma Linda University- Genetics- Site Number : 840070Loma Linda, United StatesNo longer taking part
Southern California Permanente Medical Group- Site Number : 840108Los Angeles, United StatesTaking people
Usc Health Sciences Center Dept Of Genetics- Site Number : 840082Los Angeles, United StatesNo longer taking part
University of Louisville - Health Sciences Center- Site Number : 840030Louisville, United StatesNo longer taking part
MilwaukeeMilwaukee, United StatesNo longer taking part
Children's Hospitals and Clinics of Minnesota- Site Number : 840114Minneapolis, United StatesTaking people
M Health Fairview University of Minnesota Medical Center - West Bank- Site Number : 840035Minneapolis, United StatesTaking people
M Health Fairview University of Minnesota Medical Center - West Bank- Site Number : 840076Minneapolis, United StatesTaking people
Children's Hospitals and Clinics of Minnesota- Site Number : 840046Minneapolis, United StatesNo longer taking part
Atlantic Health System- Site Number : 840099Morristown, United StatesTaking people
Vanderbilt University Medical Center - Medical Laboratories- Site Number : 840049Nashville, United StatesTaking people
Saint Peter's University Hospital - New Brunswick- Site Number : 840016New Brunswick, United StatesTaking people
Yale University School of Medicine- Site Number : 840047New Haven, United StatesTaking people
Northwell Health- Site Number : 840102New Hyde Park, United StatesTaking people
Ochsner Medical Center - Jefferson Highway- Site Number : 840120New Orleans, United StatesTaking people
Tulane University School of Medicine- Site Number : 840001New Orleans, United StatesNo longer taking part
Columbia University Irving Medical Center- Site Number : 840125New York, United StatesTaking people
Icahn School of Medicine at Mount Sinai- Site Number : 840005New York, United StatesTaking people
Metropolitan Hospital Center- Site Number : 840110New York, United StatesTaking people
Children's Hospital of The King's Daughters- Site Number : 840072Norfolk, United StatesNo longer taking part
UCSF Benioff Children's Hospital - Oakland- Site Number : 840029Oakland, United StatesNo longer taking part
University of Nebraska Medical Center- Site Number : 840084Omaha, United StatesTaking people
Children's Hospital of Orange County- Site Number : 840074Orange, United StatesTaking people
University of California Irvine Medical Center- Site Number : 840036Orange, United StatesTaking people
St. Joseph's Regional Medical Center - Paterson- Site Number : 840057Paterson, United StatesTaking people
Children'S Hospital Of Philadelphia Hup Medical Genetics- Site Number : 840089Philadelphia, United StatesTaking people
The Children's Hospital of Philadelphia- Site Number : 840034Philadelphia, United StatesTaking people
Barrow Neurological Institute- Site Number : 840087Phoenix, United StatesTaking people
Phoenix Children's Hospital- Site Number : 840003Phoenix, United StatesTaking people
UPMC Children's Hospital of Pittsburgh- Site Number : 840014Pittsburgh, United StatesTaking people
UPMC Children's Hospital of Pittsburgh- Site Number : 840023Pittsburgh, United StatesTaking people
Maine Medical Partners Pediatric Specialty Care- Site Number : 840064Portland, United StatesTaking people
Oregon Health & Science University (OHSU)- Site Number : 840080Portland, United StatesTaking people
Oregon Health & Science University (OHSU)- Site Number : 840038Portland, United StatesNo longer taking part
Oregon Health & Science University (OHSU)- Site Number : 840095Portland, United StatesNo longer taking part
Rhode Island Hospital Genetics- Site Number : 840053Providence, United StatesNo longer taking part
University of Rochester Medical Center- Site Number : 840105Rochester, United StatesNo longer taking part
Uc Davis Mind Institute- Site Number : 840010Sacramento, United StatesTaking people
Kaiser Permanente Sacramento Medical Center- Site Number : 840042Sacramento, United StatesNo longer taking part
University of Utah- Site Number : 840043Salt Lake City, United StatesTaking people
Loma Linda University Children'S Hospital- Site Number : 840117San Bernardino, United StatesNo longer taking part
University of California at San Diego- Site Number : 840007San Diego, United StatesNo longer taking part
University of California San Francisco - Parnassus Campus- Site Number : 840051San Francisco, United StatesTaking people
Seattle Children's Hospital- Site Number : 840028Seattle, United StatesTaking people
University of Washington Medical Center- Site Number : 840059Seattle, United StatesTaking people
The University of Vermont Medical Center- Site Number : 840129South Burlington, United StatesTaking people
Baystate Medical Center- Site Number : 840002Springfield, United StatesTaking people
Washington University- Site Number : 840100St Louis, United StatesTaking people
Stanford University Medical Center- Site Number : 840021Stanford, United StatesTaking people
SUNY Upstate Medical University - Site Number : 840052Syracuse, United StatesTaking people
Mary Bridge Children's Hospital & Health Center- Site Number : 840115Tacoma, United StatesTaking people
University Of Florida-Genetics- Site Number : 840096Tampa, United StatesTaking people
University of Arizona- Site Number : 840015Tucson, United StatesNo longer taking part
New York Medical College- Site Number : 840039Valhalla, United StatesTaking people
Children's National Medical Center - Washington- Site Number : 840067Washington D.C., United StatesTaking people

Questions to ask the study team

How often do I need to come in, and for how long each time?
Are travel costs paid?
Can I keep my own doctor?
What happens if I want to stop?

Print a page for my doctor

Trial details

Who runs it: Genzyme, a Sanofi Company
Trial code: NCT00231400
Record updated: 28 October 2026
Original description: 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.Read full original descriptionShow less
Pompe Disease Registry
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.
Inclusion: 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: There are no exclusion criteria in this Registry.
ClinicalTrials.gov NCT00231400