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

Condition	Treatment or Intervention
Lipid Metabolism, Inborn Errors Sitosterolemia	Procedure: genetic testing

Further Study Details: 

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.

Genders Eligible for Study:  Both

Accepts Healthy Volunteers

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

South Carolina
      Medical University of South Carolina, Charleston,  South Carolina,  29425-0721,  United States

Study chairs or principal investigators

Shailesh B. Patel,  Study Chair,  Medical University of South Carolina   

Study ID Numbers:  NCRR-M01RR01070-0470; MUSC-HR-8022
Record last reviewed:  January 2004
Last Updated:  October 13, 2004
Record first received:  October 18, 1999
ClinicalTrials.gov Identifier:  NCT00004481
Health Authority: United States: Federal Government
ClinicalTrials.gov processed this record on 2005-04-08