Registry of Fabry Disease - A Multicenter Observational Study

This study has been completed.
Sponsor:
Collaborator:
National Institute of Neurological Disorders and Stroke@@@Shire Human Genetic Therapies (HGT)
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00055016
First received: February 15, 2003
Last updated: March 5, 2008
Last verified: March 2008
  Purpose

The purpose of this study is to compile a registry of patients with Fabry disease, an inherited metabolic disorder. In this disease, an enzyme called a-galactosidase A, which normally breaks down a lipid (fatty substance) called globotriaosylceramide (Gb3), is missing or does not function properly. As a result, Gb3 accumulates, causing problems with the kidneys, heart, nerves, and blood vessels. It is not known exactly how lipid accumulation causes these problems, but in another lipid storage disease called Gaucher disease the illness can be reversed if the accumulated lipid is removed by repeated intravenous (into a vein) infusions of the deficient enzyme.

The Fabry disease registry is a voluntary and anonymous list of patients that includes information about their health and allows doctors to follow changes in their symptoms and test results over time. It also allows doctors to compare symptoms between patients who are receiving certain therapies with those who are not receiving therapy. The goals of the registry are to:

  • Better understand the natural history of Fabry disease, including disease variations within and between affected families;
  • Provide a basis for developing guidelines for disease management;
  • Evaluate how treatment affects the course of disease;
  • Provide high-quality data and analyses that will help to continuously develop better treatments.

Patients of all ages with biochemical or genetic evidence of Fabry disease (i.e., individuals who have a deficiency of the enzyme a-galactosidase A or a mutation in the gene that encodes this enzyme, or both) are eligible for this study. This worldwide study will include 100 patients participating in Fabry disease studies at the NIH. These patients will come to the NIH Clinical Center only as required for participation their Fabry disease study. No additional procedures will be required for the current registry study.

NIH patients will take part in the registry study for their lifetime, or as long as they are being followed at the NIH for their Fabry disease. At their regularly scheduled NIH clinic visits, participants will have routine medical procedures and examinations deemed necessary by the doctor. The results of blood and urine tests taken at these visits will be entered into the registry database. Blood tests will include information on genotype (determination of which gene mutation is responsible for the disease), a-galactosidase A levels, Gb3 levels, and creatinine. Urine tests results will include creatinine clearance (a measure of kidney function) and protein evaluation.


Condition
Fabry Disease

Study Type: Observational
Official Title: Registry of Fabry Disease: A Multicenter, Longitudinal Observational Study

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 100
Study Start Date: February 2003
Estimated Study Completion Date: March 2008
  Show Detailed Description

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:

This registry is open for all patients of all ages, male and female, with a confirmed diagnosis of Fabry disease.

EXCLUSION CRITERIA:

Patients who are unwilling to give informed consent.

Patients who are receiving enzyme replacement therapy other than Replagal for Fabry Disease.

Patients currently enrolled in an ongoing blinded clinical trial in which the product is considered investigational.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00055016

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
United States, Massachusetts
Transkaryotic Therapies, Inc.
Cambridge, Massachusetts, United States, 02139
Sponsors and Collaborators
National Institute of Neurological Disorders and Stroke@@@Shire Human Genetic Therapies (HGT)
  More Information

Publications:
ClinicalTrials.gov Identifier: NCT00055016     History of Changes
Other Study ID Numbers: 030106, 03-N-0106
Study First Received: February 15, 2003
Last Updated: March 5, 2008
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Lysosomal Disease
Renal Function
Stroke
Cardiac Disease
Natural History
Fabry Disease

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 July 24, 2014