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Genetic Study of Sitosterolemia

This study has been completed.
Medical University of South Carolina
Information provided by:
National Center for Research Resources (NCRR) Identifier:
First received: October 18, 1999
Last updated: June 23, 2005
Last verified: January 2004


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

Condition Intervention
Lipid Metabolism, Inborn Errors
Procedure: genetic testing

Study Type: Observational
Study Design: Observational Model: Natural History

Resource links provided by NLM:

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.


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
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Please refer to this study by its identifier: 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 Identifier: NCT00004481     History of Changes
Other Study ID Numbers: NCRR-M01RR01070-0470
Study First Received: October 18, 1999
Last Updated: June 23, 2005

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

Additional relevant MeSH terms:
Intestinal Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Lipid Metabolism Disorders
Metabolic Diseases
Gastrointestinal Diseases
Digestive System Diseases
Genetic Diseases, Inborn processed this record on May 24, 2017