Registry of Fabry Disease - A Multicenter Observational Study

NCT00055016 | Completed

• 2 other identifiers: 03010603-N-0106
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 2

Brief Summary

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.

Conditions

Fabry Disease

Keywords

Lysosomal Disease; Renal Function; Stroke; Cardiac Disease; Natural History; Fabry Disease

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

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

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Institute of Neurological Disorders and Stroke (NINDS): lead
• National Institute of Neurological Disorders and Stroke@@@Shire Human Genetic Therapies (HGT): collaborator

Study Sites (2)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Transkaryotic Therapies, Inc.

Cambridge, Massachusetts, 02139, United States

Location

Related Publications (1)

• Kaye EM, Kolodny EH, Logigian EL, Ullman MD. Nervous system involvement in Fabry's disease: clinicopathological and biochemical correlation. Ann Neurol. 1988 May;23(5):505-9. doi: 10.1002/ana.410230513.

  PMID: 3133979 BACKGROUND

MeSH Terms

Conditions

Fabry Disease; Stroke; Heart Diseases

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: February 15, 2003
• First Posted: February 17, 2003
• Study Start: February 13, 2003
• Study Completion: March 3, 2008
• Last Updated: July 2, 2017

Record last verified: 2008-03-03

Locations

US (2)