Fabry Disease Registry & Pregnancy Sub-registry

Recruiting now

Conditions studied: Fabry Disease

In brief

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.

Key facts

Study ID: NCT00196742
Run by: Genzyme, a Sanofi Company
People needed: 9000
Starts: 2001-07-31
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…

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.

Where it is running

Ann & Robert H. Lurie Children's Hospital of Chicago- Site Number : 840013 — Chicago, Illinois, United States (enrolling)
Indianapolis University School of Medicine- Site Number : 840027 — Indianapolis, Indiana, United States (enrolling)
University of Alabama Birmingham- Nephrology- Site Number : 840073 — Birmingham, Alabama, United States (enrolling)
University of Colorado at Denver Genetics- Site Number : 840068 — Aurora, Illinois, United States (enrolling)
University of Arkansas for Medical Sciences- Site Number : 840113 — Little Rock, Arkansas, United States (enrolling)
Rush University Medical Center Genetics- Site Number : 840079 — Chicago, Illinois, United States (enrolling)
Southern California Permanente Medical Group- Site Number : 840108 — Los Angeles, California, United States (enrolling)
University of Arizona- Site Number : 840015 — Tucson, Arizona, United States (enrolling)
University Of California Los Angeles- Site Number : 840088 — Los Angeles, California, United States (enrolling)
Arkansas Children's Hospital- Site Number : 840109 — Little Rock, Arkansas, 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)
Phoenix Children's Hospital- Site Number : 840003 — Phoenix, Arizona, United States (enrolling)
University of California San Francisco - Parnassus Campus- Site Number : 840051 — San Francisco, California, United States (enrolling)
Stanford University Medical Center- Site Number : 840022 — Stanford, California, 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 Miami Sylvester Comprehensive Cancer Center - Coral Springs- Site Number : 840075 — Coral Springs, Florida, United States (enrolling)
University of Florida Dept of Genetics- Site Number : 840083 — 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 Iowa- Site Number : 840032 — Iowa City, Iowa, United States (enrolling)

Full record on ClinicalTrials.gov

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