Protocol Number: 03-N-0106

Title:

Registry of Fabry Disease: A Multicenter, Longitudinal Observational Study

Number:

03-N-0106

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.

Sponsoring Institute:

National Institute of Neurological Disorders and Stroke (NINDS)

Recruitment Detail

Type: Active Accrual Of New Subjects

Gender: Male & Female

Referral Letter Required: Yes

Population Exclusion(s): None

Eligibility 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:

There are no clinical exclusion criteria.

Patients who are unwilling to give informed consent.

Special Instructions: Currently Not Provided

Keywords:

Lysosomal Disease

Renal Function

Stroke

Cardiac Disease

Natural History

Recruitment Keywords:

Fabry Disease

Conditions:

Fabry Disease

Investigational Drug(s):

None

Investigational Device(s):

None

Contacts:

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations:

Brady RO, et al. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency.

N Engl J Med. 1967 May 25;276(21):1163-7. No abstract available.

PMID: 6023233

Kahn P. Anderson-Fabry disease: a histopathological study of three cases with observations on the mechanism of production of pain.

J Neurol Neurosurg Psychiatry. 1973 Dec;36(6):1053-62. No abstract available.

PMID: 4204059

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.

PMID: 3133979

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Networks and Applications, CC.

Search The Studies | Help | Questions |
Clinical Center Home | NIH Home

Warren Grant Magnuson Clinical Center (CC)
National Institutes of Health (NIH)
Bethesda, Maryland 20892. Last update: 10/23/2004