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Genetic Study of Sitosterolemia



Genetic Study of Sitosterolemia

For Condition: Sitosterolemia,Lipid Metabolism, Inborn Errors
Status: Completed
Sponsor(s): National Center for Research Resources (NCRR) , Medical University of South Carolina
Synopsis: OBJECTIVES: I. Identify the genetic defect and fine map the gene that causes sitosterolemia.
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.
Eligibility:
Study Type:
  Observational, Natural History
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry 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
Total Enrollment: 

Location and Contact Information:

Overall Study Official:
ShaileshPatel,  Study Chair,  Medical University of South Carolina

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


Additional Information:
Study ID Numbers:
  NCRR-M01RR01070-0470;  MUSC-HR-8022
Study Start Date: November 1999
Record last reviewed: January 2004
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00004481

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1. Genetic Study of Sitosterolemia

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