Home
Search
Study Topics
Glossary
|
|
|
|
|
Sponsored by: |
National Institute of Neurological Disorders and Stroke (NINDS) |
---|---|
Information provided by: | National Institutes of Health Clinical Center (CC) |
ClinicalTrials.gov Identifier: | NCT00005111 |
This study will determine the rate of sugar metabolism in the brain of patients with Fabry disease, a genetic disease of abnormal lipid metabolism.
Compared with healthy people, patients with Fabry disease have increased blood flow to the brain, which may result from abnormal brain metabolic activity. This study will use positron emission tomography (PET) and magnetic resonance imaging (MRI) to compare brain sugar metabolism in eight untreated patients, eight patients who are receiving enzyme replacement therapy, and eight healthy volunteers.
Patients with treated and untreated Fabry disease and normal volunteers may be eligible for this study. Participants will undergo the following two procedures:
This study may provide information that will help explain abnormalities in Fabry disease and the effect of treatment on the brain.
Condition |
---|
Fabry Disease Healthy |
Study Type: | Observational |
Official Title: | (18)Fluorodeoxyglucose Positron Emission Tomography in Patients With Fabry Disease |
Estimated Enrollment: | 24 |
Study Start Date: | April 2000 |
Estimated Study Completion Date: | March 2001 |
We have found that patients with Fabry disease have an increased resting global cerebral blood flow compared with healthy subjects. This augmentation may result from an abnormal metabolic activity in the brain of the patients. The goal of this protocol is to study the cerebral metabolic rate of glucose (rCMRGlu) in eight untreated patients with Fabry disease, eight Fabry patients who are receiving enzyme replacement therapy and compare it with the rCMRGlu eight in healthy volunteers. In order to minimize the need for arterial lines we shall image the left ventricle of the heart to obtain the (18)FDG time-activity curve needed to measure rCMRGlu. The method will be validated in the healthy volunteers.
Genders Eligible for Study: | Male |
Accepts Healthy Volunteers: | Yes |
Hemizygote male Fabry patients 18-50 years-of-age.
Must be able to tolerate the procedures.
Must be able to give written informed consent.
Study ID Numbers: | 000106, 00-N-0106 |
Study First Received: | April 13, 2000 |
Last Updated: | March 3, 2008 |
ClinicalTrials.gov Identifier: | NCT00005111 History of Changes |
Health Authority: | United States: Federal Government |
Blood Flow Glucose Lysosomal Disease |
Metabolic Uptake Fabry Disease |
Lipid Metabolism, Inborn Errors Sphingolipidoses Metabolic Diseases Lysosomal Storage Diseases Sphingolipidosis Central Nervous System Diseases Healthy 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 |
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 |