PET Scans in Normal Volunteers and Patients With Fabry Disease - Full Text View

Purpose

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:

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.
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.

Condition
Fabry Disease Healthy

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

Resource links provided by NLM:

Genetics Home Reference related topics: Chanarin-Dorfman syndrome cholesteryl ester storage disease Fabry disease Farber lipogranulomatosis Schindler disease succinic semialdehyde dehydrogenase deficiency

MedlinePlus related topics: Nuclear Scans

U.S. FDA Resources

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.

Eligibility

Genders Eligible for Study:	Male
Accepts Healthy Volunteers:	Yes

Criteria

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

Please refer to this study by its ClinicalTrials.gov identifier: NCT00005111

Locations

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:

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.

Tabira T, Goto I, Kuroiwa Y, Kikuchi M. Neuropathological and biochemical studies in Fabry's disease. Acta Neuropathol (Berl). 1974;30(4):345-54. No abstract available.

Suhonen-Polvi H, Varho T, Metsahonkala L, Haataja L, Ruotsalainen U, Haaparanta M, Bergman J, Solin O, Aarimaa T, Holopainen I, Vainionpaa L, Manner T, Jaaskelainen S, Renlund M, Sillanpaa M, Aula P. Increased brain glucose utilization in Salla disease (free sialic acid storage disorder). J Nucl Med. 1999 Jan;40(1):12-8.

ClinicalTrials.gov Identifier:	NCT00005111 History of Changes
Other Study ID Numbers:	000106, 00-N-0106
Study First Received:	April 13, 2000
Last Updated:	March 3, 2008
Health Authority:	United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):

Blood Flow
Glucose
Lysosomal Disease

Metabolic
Uptake
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
Genetic Diseases, X-Linked

Genetic Diseases, Inborn
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Sphingolipidoses
Metabolism, Inborn Errors
Lipidoses
Lipid Metabolism, Inborn Errors

ClinicalTrials.gov processed this record on May 19, 2013