Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
OBSERVATIONAL
1999-11-30
Brief Summary
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I. Identify the genetic defect and fine map the gene that causes sitosterolemia.
Detailed Description
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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.
Conditions
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Study Design
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NATURAL_HISTORY
Interventions
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genetic testing
Eligibility Criteria
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Inclusion 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
0 Years
ALL
Yes
Sponsors
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Medical University of South Carolina
OTHER
National Center for Research Resources (NCRR)
NIH
Principal Investigators
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Shailesh B. Patel
Role: STUDY_CHAIR
Medical University of South Carolina
Locations
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Medical University of South Carolina
Charleston, South Carolina, United States
Countries
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Other Identifiers
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MUSC-HR-8022
Identifier Type: -
Identifier Source: secondary_id
NCRR-M01RR01070-0470
Identifier Type: -
Identifier Source: org_study_id