Recruiting

Fabry Disease

Sponsor:

Genzyme, a Sanofi Company

Code:

NCT00196742

Conditions

Fabry Disease

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

The Fabry Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Fabry disease, irrespective of treatment status. No experimental intervention is involved; patients in the Registry undergo clinical assessments and receive care as determined by the patient's treating physician.

The primary objectives of the Registry are:

  • To enhance the understanding of the variability, progression, and natural history of Fabry disease, including heterozygous females with the disease;
  • To assist the Fabry medical community with the development of recommendations for monitoring patients and reports on patient outcomes to help optimize patient care;
  • To characterize and describe the Fabry population as a whole;
  • To evaluate the long-term safety and effectiveness of Fabrazyme®

Fabry Pregnancy Sub-registry: This Sub-registry is a multicenter, international, longitudinal, observational, and voluntary program designed to track pregnancy outcomes for any pregnant woman enrolled in the Fabry Registry, regardless of whether she is receiving disease-specific therapy (such as enzyme replacement therapy with agalsidase beta) and irrespective of the commercial product with which she may be treated. Data from the Sub-registry are also used to fulfill various global regulatory requirements, to support product development/reimbursement, and for other research and non-research-related purposes. No experimental intervention is given; thus a patient will undergo clinical assessments and receive standard of care treatment as determined by the patient's physician. If a patient consents to this Sub-registry, information about the patient's medical and obstetric history, pregnancy, and birth will be collected, and, if a patient consents to data collection for her infant, data on infant growth through month 36 postpartum will be collected.

Conditions

Fabry Disease

Study ID

NCT00196742

Start date

Jul 31, 2001

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

  • Fabry Registry: All patients with a confirmed diagnosis of Fabry disease who have signed the informed consent and patient authorization form(s) are eligible for inclusion. Confirmed diagnosis is defined as a documented deficiency in plasma or leukocyte αGAL (alpha-galactosidase) enzyme activity and/or mutation(s) in the gene coding for αGAL.
  • Fabry Pregnancy Sub-registry:

  • Eligible women must:

  • be enrolled in the Fabry Registry.
  • be pregnant, or have been pregnant with appropriate medical documentation available.
  • provide a signed informed consent and authorization form(s) to participate in the Sub-Registry prior to any Sub-Registry-related data collection being performed.

Exclusion Criteria Fabry Registry: There are no exclusion criteria. Fabry Pregnancy Sub-registry: There are no exclusion criteria.

Study Design

Enrollment

9000 participants

Anticipated

Interventions and Outcome Measures

Arms

Patients with Fabry disease

No experimental intervention is given. A patient with Fabry Disease will undergo clinical assessments and receive standard of care treatment as determined by the patient's physician.

Pregnant women with confirmed diagnosis of Fabry

No experimental intervention is given. Pregnant women with confirmed diagnosis of Fabry that are participating in the Fabry Registry and consented to participate in the Fabry Sub-registry, regardless of whether she is receiving disease-specific therapy (such as ERT with agalsidase beta) and irrespective of the commercial product with which she may be treated.

Primary outcome measure

  • Fabry Registry: To evaluate the long-term safety and effectiveness of Fabrazyme® [ Time Frame: 33 years ]
  • Fabry Pregnancy Sub-registry: pregnancy outcomes, including complications and infant growth [ Time Frame: 33 years ]

Central Contacts and Locations

Central contacts

Trial Transparency

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

Fabry Registry HelpLine

617-591-5500

Locations

University of Alabama Birmingham- Nephrology- Site Number : 840073

Recruiting

Birmingham, Alabama, United States, 35294

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, 92697

Southern California Permanente Medical Group- Site Number : 840108

Recruiting

Los Angeles, California, United States, 90027

University Of California Los Angeles- Site Number : 840088

Recruiting

Los Angeles, California, United States, 90095

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 Medical Center- Site Number : 840022

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 Miami Sylvester Comprehensive Cancer Center - Coral Springs- Site Number : 840075

Recruiting

Coral Springs, Florida, United States, 33065

University of Florida Dept of Genetics- Site Number : 840083

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 : 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 : 840071

Recruiting

Kansas City, Kansas, United States, 66160

Ochsner Health Center - Baton Rouge- Site Number : 840120

Recruiting

Baton Rouge, Louisiana, United States, 70809

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

Brigham & Women's Hospital- Site Number : 840103

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 : 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

Joseph M. Sanzari Children's Hospital- 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 : 840080

Recruiting

New York, New York, United States, 10029

Metropolitan Hospital Center- Site Number : 840110

Recruiting

New York, New York, United States, 10029

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

Atrium Health - Carolinas Medical Center- Site Number : 840065

Recruiting

Charlotte, North Carolina, United States, 28203

Duke University Medical Center Genetics Dept- Site Number : 840045

Recruiting

Durham, North Carolina, United States, 27710

Cincinnati Children's Hospital Medical Center (Cincinnati Children's Hospital)- Site Number : 840033

Recruiting

Cincinnati, Ohio, United States, 45229

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 : 840116

Recruiting

Portland, Oregon, United States, 97239

Geisinger Medical Center- Site Number : 840111

Recruiting

Danville, Pennsylvania, United States, 17822

Penn State University Medical Center-Neurology- Site Number : 840104

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 : 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

MultiCare Mary Bridge Children's 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 : 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 : 124023

Recruiting

St. John's, Newfoundland and Labrador, Canada, A1B 3V6

Investigational Site Number : 124008

Recruiting

Halifax, Nova Scotia, Canada, B3H 3A7

Investigational Site Number : 124021

Recruiting

London, Ontario, Canada, N6A 5A5

Investigational Site Number : 124006

Recruiting

Toronto, Ontario, Canada, M5G 1X8

Investigational Site Number : 124009

Recruiting

Toronto, Ontario, Canada, M5T 3H7

Investigational Site Number : 124013

Recruiting

Montreal, Quebec, Canada, H4J 1C5

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

  • alpha Galactosidase A
  • aGAL (alpha-galactosidase)
  • Fabry
  • GL3 (globotriaosylceramide)
  • Anderson-Fabry Disease
  • angiokeratomas
  • GLA deficiency (gene deficiency)
  • errors in metabolism

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.