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Fabry Disease Registry

This study is currently recruiting participants.
Verified March 2013 by Genzyme
Sponsor:
Information provided by (Responsible Party):
Genzyme
ClinicalTrials.gov Identifier:
NCT00196742
First received: September 13, 2005
Last updated: March 18, 2013
Last verified: March 2013
History of Changes
  Purpose

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 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; and
  • To evaluate the long-term safety and effectiveness of Fabrazyme®

Condition
Fabry Disease

Study Type: Observational
Study Design: Observational Model: Cohort
Official Title: Fabry Disease Registry

Resource links provided by NLM:

U.S. FDA Resources

Further study details as provided by Genzyme:

Primary Outcome Measures:
  • To evaluate the long-term safety and effectiveness of Fabrazyme® [ Time Frame: 15 years ] [ Designated as safety issue: No ]

Estimated Enrollment: 9000
Study Start Date: April 2001
Estimated Study Completion Date: July 2020
Estimated Primary Completion Date: July 2020 (Final data collection date for primary outcome measure)
Detailed Description:

The Fabry Registry is an international program; in addition to the central contact information provided under the "Location" heading, patients may contact:

  • In Asia-Pacific - Vivian Liu, +65-6431-2548, Vivian.liu@genzyme.com
  • In Europe - +31-35-699-1232, europe@FabryRegistry.com
  • In Latin America - +617-591-5500, help@FabryRegistry.com
  • In North America - +617-591-5500, help@FabryRegistry.com
  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

All patients with a confirmed diagnosis of Fabry disease are eligible for inclusion in the Registry.

Criteria

Inclusion Criteria 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 enzyme activity and/or mutation(s) in the gene coding for αGAL.

Exclusion Criteria There are no exclusion criteria in this Registry. Patients are allowed to participate in other clinical studies and may be receiving different therapies to treat their disease; however, enrollment in other clinical studies should be noted on the Registry case report forms (CRFs).

  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00196742

Contacts
Contact: Fabry Registry HelpLine 800-745-4447 ext 15500 help@fabryregistry.com
Contact: Fabry Registry HelpLine 617-591-5500 help@fabryregistry.com

Locations
United States, Massachusetts
Registry participation is worldwide and not limited to this facility; facilities not yet active may enroll upon identification of a patient. Recruiting
Cambridge, Massachusetts, United States, 02142
Sponsors and Collaborators
Genzyme
Investigators
Study Director: Medical Monitor Genzyme
  More Information

No publications provided

Responsible Party: Genzyme
ClinicalTrials.gov Identifier: NCT00196742     History of Changes
Other Study ID Numbers: FABRY REGISTRY
Study First Received: September 13, 2005
Last Updated: March 18, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by Genzyme:
alpha Galactosidase A
aGAL
Fabry
GL3
 Anderson-Fabry Disease
angiokeratomas
GLA deficiency
errors in metabolism

Additional relevant MeSH terms:
Fabry Disease
Sphingolipidoses
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
 Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders

ClinicalTrials.gov processed this record on May 23, 2013