Registry of Fabry Disease - A Multicenter Observational Study
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| ClinicalTrials.gov Identifier: NCT00055016 |
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Recruitment Status
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Completed
First Posted
: February 17, 2003
Last Update Posted
: July 2, 2017
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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 or disease |
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| Fabry Disease |
Show Detailed Description
| Study Type : | Observational |
| Enrollment : | 100 participants |
| Official Title: | Registry of Fabry Disease: A Multicenter, Longitudinal Observational Study |
| Study Start Date : | February 13, 2003 |
| Study Completion Date : | March 3, 2008 |
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, Learn About Clinical Studies.
| Ages Eligible for Study: | Child, Adult, Senior |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
- 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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00055016
| 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 | |
Publications:
| ClinicalTrials.gov Identifier: | NCT00055016 History of Changes |
| Other Study ID Numbers: |
030106 03-N-0106 |
| First Posted: | February 17, 2003 Key Record Dates |
| Last Update Posted: | July 2, 2017 |
| Last Verified: | March 3, 2008 |
Keywords provided by National Institutes of Health Clinical Center (CC):
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Lysosomal Disease Renal Function Stroke |
Cardiac Disease Natural History Fabry Disease |
Additional relevant MeSH terms:
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Fabry Disease 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 Metabolism, Inborn Errors Lipidoses Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders |