Genetic Study of Sitosterolemia
|ClinicalTrials.gov Identifier: NCT00004481|
Recruitment Status : Completed
First Posted : October 19, 1999
Last Update Posted : June 24, 2005
I. Identify the genetic defect and fine map the gene that causes sitosterolemia.
|Condition or disease||Intervention/treatment|
|Lipid Metabolism, Inborn Errors Sitosterolemia||Procedure: genetic testing|
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|
|Observational Model:||Natural History|
|Study Start Date :||November 1999|
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00004481
|United States, South Carolina|
|Medical University of South Carolina|
|Charleston, South Carolina, United States, 29425-0721|
|Study Chair:||Shailesh B. Patel||Medical University of South Carolina|