Genetic Study of Sitosterolemia


Lead Sponsor: National Center for Research Resources (NCRR)

Collaborator: Medical University of South Carolina

Source National Center for Research Resources (NCRR)
Brief Summary

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

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.

Overall Status Completed
Start Date 1999-11-01
Study Type Observational

Intervention Type: Procedure

Intervention Name: genetic testing



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 OR - Family member of patient with sitosterolemia OR - Normal volunteer



Minimum Age:


Maximum Age:


Healthy Volunteers:

Accepts Healthy Volunteers

Overall Official
Last Name Role Affiliation
Shailesh B. Patel Study Chair Medical University of South Carolina
Facility: Medical University of South Carolina
Location Countries

United States

Verification Date


Has Expanded Access No
Condition Browse
Study Design Info

Observational Model: Natural History

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