Genetic Study of Sitosterolemia

This study has been completed.

First Received: October 18, 1999 Last Updated: June 23, 2005 History of Changes

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: Chanarin-Dorfman syndrome 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

No publications provided

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

Keywords provided by National Center for Research Resources (NCRR):

endocrine disorders
inborn errors of metabolism
rare disease
sitosterolemia

Study placed in the following topic categories:

Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Sitosterolemia
Metabolic Diseases
Genetic Diseases, Inborn

Rare Diseases
Endocrine System Diseases
Endocrinopathy
Metabolic Disorder
Lipid Metabolism Disorders

Additional relevant MeSH terms:

Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Metabolic Diseases
Genetic Diseases, Inborn
Lipid Metabolism Disorders

ClinicalTrials.gov processed this record on May 07, 2009