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Genetic Study of Sitosterolemia

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ClinicalTrials.gov Identifier: NCT00004481
Recruitment Status : Completed
First Posted : October 19, 1999
Last Update Posted : June 24, 2005
Information provided by:

Study Description
Brief Summary:


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

Condition or disease Intervention/treatment
Lipid Metabolism, Inborn Errors Sitosterolemia Procedure: genetic testing

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.

Study Design

Study Type : Observational
Observational Model: Natural History
Study Start Date : November 1999

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Groups and Cohorts

Outcome Measures

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes


--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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00004481

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

ClinicalTrials.gov Identifier: NCT00004481     History of Changes
Other Study ID Numbers: NCRR-M01RR01070-0470
First Posted: October 19, 1999    Key Record Dates
Last Update Posted: June 24, 2005
Last Verified: January 2004

Keywords provided by National Center for Research Resources (NCRR):
endocrine disorders
inborn errors of metabolism
rare disease

Additional relevant MeSH terms:
Metabolism, Inborn Errors
Intestinal Diseases
Lipid Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Lipid Metabolism Disorders
Gastrointestinal Diseases
Digestive System Diseases