Genetic Study of Sitosterolemia - Full Text View

Genetic Study of Sitosterolemia

This study has been completed.

Sponsors and Collaborators:	National Center for Research Resources (NCRR) Medical University of South Carolina
Information provided by:	National Center for Research Resources (NCRR)
ClinicalTrials.gov Identifier:	NCT00004481

Purpose

OBJECTIVES:

I. Identify the genetic defect and fine map the gene that causes sitosterolemia.

Condition	Intervention
Lipid Metabolism, Inborn Errors Sitosterolemia	Procedure: genetic testing

Genetics Home Reference related topics:

cholesteryl ester storage disease Farber lipogranulomatosis long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency mitochondrial trifunctional protein deficiency primary carnitine deficiency

U.S. FDA Resources

Study Type:	Observational
Study Design:	Natural History

Further study details as provided by National Center for Research Resources (NCRR):

Study Start Date:

November 1999

Detailed Description:

PROTOCOL OUTLINE: Patients, family members, and normal volunteers provide blood samples for genetic studies and may fill out a general health and medication history.

Linkage analysis and microsatellite screening is performed on genomic DNA, especially chromosome 2p21, between microsatellite markers D2S1788 and D2S1352.

Positive results may be reported to the patient and may influence future treatment.

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	Yes

Criteria

PROTOCOL ENTRY CRITERIA:

--Disease Characteristics--

Diagnosis of sitosterolemia Presence of tendon and tuberous xanthomas Premature atherosclerotic disease No family history of premature coronary artery disease Normal or elevated plasma cholesterol levels

Family member of patient with sitosterolemia

Normal volunteer

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00004481

Locations


United States, South Carolina
	Medical University of South Carolina
	Charleston, South Carolina, United States, 29425-0721

Sponsors and Collaborators

National Center for Research Resources (NCRR)

Medical University of South Carolina

Investigators


Study Chair:	Shailesh B. Patel	Medical University of South Carolina

More Information

Study ID Numbers:	NCRR-M01RR01070-0470, MUSC-HR-8022
First Received:	October 18, 1999
Last Updated:	June 23, 2005
ClinicalTrials.gov Identifier:	NCT00004481
Health Authority:	United States: Federal Government