Expired Study
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Charleston, South Carolina 29425


Purpose:

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


Study summary:

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.


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


NCT ID:

NCT00004481


Primary Contact:

Study Chair
Shailesh B. Patel
Medical University of South Carolina


Backup Contact:

N/A


Location Contact:

Charleston, South Carolina 29425
United States



There is no listed contact information for this specific location.

Site Status: N/A


Data Source: ClinicalTrials.gov

Date Processed: September 21, 2017

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