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PET Scans in Normal Volunteers and Patients With Fabry Disease

This study has been completed.
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: April 13, 2000
Last updated: March 3, 2008
Last verified: March 2000

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:

  1. PET scan < The patient lies in the PET scanning machine. First, the chest is scanned for a few minutes to determine how much radiation the tissues of the chest absorb. A radioactive sugar called fluorodeoxyglucose (FDG) is then injected through a catheter (thin plastic tube placed in a vein) and the heart is scanned for about 45 minutes to measure the amount of FDG in the blood inside the heart. The head is then scanned for about 20 minutes to measure FDG in the brain. This measurement tells how much sugar the brain uses for energy. The procedure requires insertion of two or three catheters. A special facemask may be molded to the patient's head to help hold the head still during the scanning.
  2. MRI scan < The patient lies on a table surrounded by the scanner (a metal cylinder) for about 60 minutes. A strong magnetic field and radio waves are used to show images of structural and chemical changes in tissues.

This study may provide information that will help explain abnormalities in Fabry disease and the effect of treatment on the brain.

Fabry Disease Healthy

Study Type: Observational
Official Title: (18)Fluorodeoxyglucose Positron Emission Tomography in Patients With Fabry Disease

Resource links provided by NLM:

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

Estimated Enrollment: 24
Study Start Date: April 2000
Estimated Study Completion Date: March 2001
Detailed Description:
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.

Ages Eligible for Study:   Child, Adult, Senior
Sexes 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.

  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 identifier: NCT00005111

United States, Maryland
National Institute of Neurological Disorders and Stroke (NINDS)
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Institute of Neurological Disorders and Stroke (NINDS)
  More Information

Publications: Identifier: NCT00005111     History of Changes
Other Study ID Numbers: 000106
Study First Received: April 13, 2000
Last Updated: March 3, 2008

Keywords provided by National Institutes of Health Clinical Center (CC):
Blood Flow
Lysosomal Disease
Fabry Disease

Additional relevant MeSH terms:
Fabry Disease
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
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders processed this record on September 21, 2017