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Fabry Disease Registry
This study is currently recruiting participants.
Verified by Genzyme, March 2009
First Received: September 13, 2005   Last Updated: July 28, 2009   History of Changes
Sponsored by: Genzyme
Information provided by: Genzyme
ClinicalTrials.gov Identifier: NCT00196742
  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: Cohort
Official Title: Fabry Disease Registry

Resource links provided by NLM:


Further study details as provided by Genzyme:

Study Start Date: April 2001
Groups/Cohorts
1
Male patients
2
Female patients

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 - Margie Jimenez, +852 2810 1613
  • 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 are eligible for inclusion in the Registry.

Confirmed diagnosis is defined as: a documented plasma or leukocyte α-galactosidase A (α-gal A) deficiency, or a documented α-gal A deficiency and/or mutation in the α-gal A gene in heterozygous females.

  • For all patients, appropriate patient authorization will be obtained.

Exclusion Criteria:

  • There are no exclusion criteria for participation in the Fabry Registry. Registry participation does not exclude participation in other clinical studies.
  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 Coporation ( Medical Monitor )
Study ID Numbers: Fabry Registry
Study First Received: September 13, 2005
Last Updated: July 28, 2009
ClinicalTrials.gov Identifier: NCT00196742     History of Changes
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

Study placed in the following topic categories:
Lipid Metabolism, Inborn Errors
Sphingolipidoses
Metabolic Diseases
Lysosomal Storage Diseases
Sphingolipidosis
Central Nervous System Diseases
Brain Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Fabry Disease
Genetic Diseases, X-Linked
Ceramide Trihexosidosis
Brain Diseases, Metabolic, Inborn
Lipidoses
Metabolic Disorder
Lipid Metabolism Disorders
Brain Diseases, Metabolic

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

ClinicalTrials.gov processed this record on September 03, 2009