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Genetic Study of Sitosterolemia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT00004481
Recruitment Status : Completed
First Posted : October 19, 1999
Last Update Posted : June 24, 2005
Sponsor:
Collaborator:
Medical University of South Carolina
Information provided by:
National Center for Research Resources (NCRR)

Tracking Information
First Submitted Date October 18, 1999
First Posted Date October 19, 1999
Last Update Posted Date June 24, 2005
Study Start Date November 1999
Primary Completion Date Not Provided
Current Primary Outcome Measures Not Provided
Original Primary Outcome Measures Not Provided
Change History No Changes Posted
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Genetic Study of Sitosterolemia
Official Title Not Provided
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 Type Observational
Study Design Observational Model: Natural History
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Not Provided
Study Population Not Provided
Condition
  • Lipid Metabolism, Inborn Errors
  • Sitosterolemia
Intervention Procedure: genetic testing
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Enrollment Not Provided
Original Enrollment Not Provided
Study Completion Date Not Provided
Primary Completion Date Not Provided
Eligibility 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
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers Yes
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT00004481
Other Study ID Numbers NCRR-M01RR01070-0470
MUSC-HR-8022
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Not Provided
Study Sponsor National Center for Research Resources (NCRR)
Collaborators Medical University of South Carolina
Investigators
Study Chair: Shailesh B. Patel Medical University of South Carolina
PRS Account National Center for Research Resources (NCRR)
Verification Date January 2004