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Clinical Trial Summary

OBJECTIVES:

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


Clinical Trial 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. ;


Study Design

Observational Model: Natural History


Related Conditions & MeSH terms


NCT number NCT00004481
Study type Observational
Source National Center for Research Resources (NCRR)
Contact
Status Completed
Phase N/A
Start date November 1999

See also
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Completed NCT00362180 - Measure Liver Fat Content After ISIS 301012 (Mipomersen) Administration Phase 2
Terminated NCT00092833 - Investigational Drug in Patients With Hypercholesterolemia or in Patients With Sitosterolemia (0653-026)(COMPLETED) Phase 3
Active, not recruiting NCT02635269 - Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy N/A
Terminated NCT00260299 - Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency
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Completed NCT00694109 - An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 (Mipomersen) in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia Phase 3