Recruiting

Observational Study

Sponsor:

Genzyme, a Sanofi Company

Code:

NCT00231400

Conditions

Glycogen Storage Disease Type II

Pompe Disease

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief 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.

Conditions

Glycogen Storage Disease Type II

Pompe Disease

Study ID

NCT00231400

Start date

Sep 15, 2004

Status verified date

Jun, 2026

Completion date

Jan 31, 2034

Anticipated

Primary completion date

Jan 31, 2034

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

2000 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Understanding of the variability, progression , identification and natural history of the manifestations of Pompe disease [ Time Frame: maximum 30 years ]

Central Contacts and Locations

Central contacts

Trial Transparency email recommended (Toll free number for US & Canada)

800-633-1610contact-us@sanofi.com

Pompe Registry HelpLine

617-591-5500

Locations

University of Alabama at Birmingham- Site Number : 840106

Recruiting

Birmingham, Alabama, United States, 35233

Barrow Neurological Institute- Site Number : 840087

Recruiting

Phoenix, Arizona, United States, 85013

Phoenix Children's Hospital- Site Number : 840003

Recruiting

Phoenix, Arizona, United States, 85016

University of Arizona- Site Number : 840015

Recruiting

Tucson, Arizona, United States, 85724

Arkansas Children's Hospital- Site Number : 840109

Recruiting

Little Rock, Arkansas, United States, 72202

University of Arkansas for Medical Sciences- Site Number : 840113

Recruiting

Little Rock, Arkansas, United States, 72205

University of California at Irvine- Site Number : 840036

Recruiting

Irvine, California, United States, 90211

Southern California Permanente Medical Group- Site Number : 840108

Recruiting

Los Angeles, California, United States, 90027

Children's Hospital of Orange County- Site Number : 840074

Recruiting

Orange, California, United States, 92868

UC Davis MIND Institute- Site Number : 840010

Recruiting

Sacramento, California, United States, 95817

University of California San Francisco - Parnassus Campus- Site Number : 840051

Recruiting

San Francisco, California, United States, 94143

Stanford University Pediatrics- Site Number : 840021

Recruiting

Stanford, California, United States, 94305

Yale University School of Medicine- Site Number : 840047

Recruiting

New Haven, Connecticut, United States, 06510

Children's National Medical Center - Washington- Site Number : 840067

Recruiting

Washington D.C., District of Columbia, United States, 20010

University of Miami- Site Number : 840006

Recruiting

Coral Gables, Florida, United States, 33124

University of Florida College of Medicine- Site Number : 840012

Recruiting

Gainesville, Florida, United States, 32610

University of Florida Pediatrics Genetics- Site Number : 840121

Recruiting

Jacksonville, Florida, United States, 32207

University of Florida-Genetics- Site Number : 840096

Recruiting

Tampa, Florida, United States, 33606

Emory University School of Medicine- Human Genetics- Site Number : 840060

Recruiting

Decatur, Georgia, United States, 30033

University of Colorado at Denver Genetics- Site Number : 840068

Recruiting

Aurora, Illinois, United States, 80045

Ann & Robert H. Lurie Children's Hospital of Chicago- Site Number : 840011

Recruiting

Chicago, Illinois, United States, 60611

Ann & Robert H. Lurie Children's Hospital of Chicago- Site Number : 840013

Recruiting

Chicago, Illinois, United States, 60611

Rush University Medical Center Genetics- Site Number : 840079

Recruiting

Chicago, Illinois, United States, 60612

Indianapolis University School of Medicine- Site Number : 840027

Recruiting

Indianapolis, Indiana, United States, 46202

University of Iowa- Site Number : 840032

Recruiting

Iowa City, Iowa, United States, 52242

University of Kansas Medical Center- Site Number : 840020

Recruiting

Kansas City, Kansas, United States, 66160

Maine Medical Partners Pediatric Specialty Care- Site Number : 840064

Recruiting

Portland, Maine, United States, 04102

Massachusetts General Hospital-Genetics- Site Number : 840062

Recruiting

Boston, Massachusetts, United States, 02114

Boston Children's Hospital- Site Number : 840092

Recruiting

Boston, Massachusetts, United States, 02115

Baystate Medical Center- Site Number : 840002

Recruiting

Springfield, Massachusetts, United States, 01199

University of Michigan Pediatrics- Site Number : 840107

Recruiting

Ann Arbor, Michigan, United States, 48109

Children's Hospital of Michigan- Site Number : 840066

Recruiting

Detroit, Michigan, United States, 48201

Infusion Associates - Grand Rapids- Site Number : 840050

Recruiting

Grand Rapids, Michigan, United States, 49525

Children's Hospitals and Clinics of Minnesota- Site Number : 840114

Recruiting

Minneapolis, Minnesota, United States, 55404

M Health Fairview University of Minnesota Medical Center - West Bank- Site Number : 840035

Recruiting

Minneapolis, Minnesota, United States, 55454

M Health Fairview University of Minnesota Medical Center - West Bank- Site Number : 840076

Recruiting

Minneapolis, Minnesota, United States, 55454

University of Missouri Health System Department of Genetics- Site Number : 840031

Recruiting

Columbia, Missouri, United States, 65212

Washington University- Site Number : 840100

Recruiting

St Louis, Missouri, United States, 63110

University of Nebraska Medical Center- Site Number : 840084

Recruiting

Omaha, Nebraska, United States, 68198

Children's Specialty Center - Las Vegas- Site Number : 840008

Recruiting

Las Vegas, Nevada, United States, 89109

Hackensack Meridian Health - Hackensack University Medical Center- Site Number : 840101

Recruiting

Hackensack, New Jersey, United States, 07601

Atlantic Health System- Site Number : 840099

Recruiting

Morristown, New Jersey, United States, 07962

Saint Peter's University Hospital - New Brunswick- Site Number : 840016

Recruiting

New Brunswick, New Jersey, United States, 08901

St. Joseph's Regional Medical Center - Paterson- Site Number : 840057

Recruiting

Paterson, New Jersey, United States, 07503

NYU Langone Health - Perlmutter Cancer Center - Huntington- Site Number : 840040

Recruiting

Huntington, New York, United States, 11743

Northwell Health- Site Number : 840102

Recruiting

New Hyde Park, New York, United States, 11042

Icahn School of Medicine at Mount Sinai- Site Number : 840005

Recruiting

New York, New York, United States, 10029

Metropolitan Hospital Center- Site Number : 840110

Recruiting

New York, New York, United States, 10029

Columbia University Irving Medical Center- Site Number : 840125

Recruiting

New York, New York, United States, 10032

SUNY Upstate Medical University - Site Number : 840052

Recruiting

Syracuse, New York, United States, 13210

New York Medical College- Site Number : 840039

Recruiting

Valhalla, New York, United States, 10595

Carolinas Medical Center Hospital- Site Number : 840065

Recruiting

Charlotte, North Carolina, United States, 28232

Duke University Medical Center Genetics Dept- Site Number : 840037

Recruiting

Durham, North Carolina, United States, 27710

University of Cincinnati Medical Center- Site Number : 840124

Recruiting

Cincinnati, Ohio, United States, 45219

University Hospitals Cleveland Medical Center- Site Number : 840119

Recruiting

Cleveland, Ohio, United States, 44106

Cleveland Clinic - Cleveland- Site Number : 840048

Recruiting

Cleveland, Ohio, United States, 44195

Nationwide Children's Hospital- Site Number : 840091

Recruiting

Columbus, Ohio, United States, 43205

LSD Data Registry Site LLC- Site Number : 840094

Recruiting

Dublin, Ohio, United States, 43017

Oregon Health & Science University (OHSU)- Site Number : 840080

Recruiting

Portland, Oregon, United States, 97239

Penn State Health Milton South Hershey Medical Center- Site Number : 840126

Recruiting

Hershey, Pennsylvania, United States, 17033

Children's Hospital of Philadelphia HUP Medical Genetics- Site Number : 840089

Recruiting

Philadelphia, Pennsylvania, United States, 19104

Children's Hospital of Philadelphia- Site Number : 840034

Recruiting

Philadelphia, Pennsylvania, United States, 19104

UPMC Children's Hospital of Pittsburgh- Site Number : 840014

Recruiting

Pittsburgh, Pennsylvania, United States, 15224

UPMC Children's Hospital of Pittsburgh- Site Number : 840023

Recruiting

Pittsburgh, Pennsylvania, United States, 15224

Greenwood Genetic Center - Greenville- Site Number : 840055

Recruiting

Greenville, South Carolina, United States, 29605

Vanderbilt University Medical Center Diagnostic Lab- Site Number : 840049

Recruiting

Nashville, Tennessee, United States, 37212

Baylor Institute of Metabolic Disease- Site Number : 840058

Recruiting

Dallas, Texas, United States, 75226

Cook Children's Medical Center- Site Number : 840024

Recruiting

Fort Worth, Texas, United States, 76104

University of Utah Department of Medical Genetics- Site Number : 840043

Recruiting

Salt Lake City, Utah, United States, 84132

O & O Alpan- Site Number : 840025

Recruiting

Fairfax, Virginia, United States, 22030

Seattle Children's Hospital- Site Number : 840028

Recruiting

Seattle, Washington, United States, 98105

University of Washington Medical Center- Site Number : 840059

Recruiting

Seattle, Washington, United States, 98195

Mary Bridge Children's Hospital & Health Center- Site Number : 840115

Recruiting

Tacoma, Washington, United States, 98405

Children's Wisconsin- Site Number : 840054

Recruiting

Milwaukee, Wisconsin, United States, 53226

Investigational Site Number : 124014

Recruiting

Calgary, Alberta, Canada, T2E 7Z4

Investigational Site Number : 124002

Recruiting

Edmonton, Alberta, Canada, T6G 2B7

Investigational Site Number : 124007

Recruiting

Lethbridge, Alberta, Canada, T1J 0N9

Investigational Site Number : 124010

Recruiting

Vancouver, British Columbia, Canada, V5Z 1M9

Investigational Site Number : 124019

Recruiting

Winnipeg, Manitoba, Canada, R3A 1R9

Investigational Site Number : 124022

Recruiting

Moncton, New Brunswick, Canada, E1C 2Z3

Investigational Site Number : 124021

Recruiting

London, Ontario, Canada, N6A 5A5

Investigational Site Number : 124018

Recruiting

Ottawa, Ontario, Canada, K1K 4L2

Investigational Site Number : 124006

Recruiting

Toronto, Ontario, Canada, M5G 1X8

Investigational Site Number : 124004

Recruiting

Montreal, Quebec, Canada, H3A2B4

Investigational Site Number : 124001

Recruiting

Sherbrooke, Quebec, Canada, J1K 2R1

More Information

Sponsor

Genzyme, a Sanofi Company

Last update posted

Jun 23, 2026

Last verified

Jun, 2026

Keywords

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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Genzyme, a Sanofi Company on 2026-06-23.