Genetic Study of Sitosterolemia

Completed

• Conditions: Lipid Metabolism, Inborn Errors; Sitosterolemia

• Registration Number: NCT00004481
• Lead Sponsor: National Center for Research Resources (NCRR)

Brief Summary

OBJECTIVES:

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

Detailed 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 Timeline

• Study First Submitted: 1999-10-18
• Study First Submitted QC: 1999-10-18
• Study First Posted: 1999-10-19
• Study Start: 1999-11
• Status Verified: 2004-01
• Last Update Submitted: 2005-06-23
• Last Update Posted: 2005-06-24

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: Not specified

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Trial Locations

Locations (1)

Medical University of South Carolina; 🇺🇸 Charleston, South Carolina, United States