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Genetic Study of Sitosterolemia

This study has been completed.
Sponsor:
Collaborator:
Medical University of South Carolina
Information provided by:
National Center for Research Resources (NCRR)
ClinicalTrials.gov Identifier:
NCT00004481
First received: October 18, 1999
Last updated: June 23, 2005
Last verified: January 2004
History of Changes
  Purpose

OBJECTIVES:

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


Condition Intervention
Lipid Metabolism, Inborn Errors
Sitosterolemia
 Procedure: genetic testing

Study Type: Observational
Study Design: Observational Model: Natural History

Resource links provided by NLM:

MedlinePlus related topics: Genetic Testing
U.S. FDA Resources

Further study details as provided by National Center for Research Resources (NCRR):

Study Start Date: November 1999
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.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
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
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00004481

Locations
United States, South Carolina
Medical University of South Carolina
Charleston, South Carolina, United States, 29425-0721
Sponsors and Collaborators
National Center for Research Resources (NCRR)
Medical University of South Carolina
Investigators
Study Chair: Shailesh B. Patel Medical University of South Carolina
  More Information

No publications provided

ClinicalTrials.gov Identifier: NCT00004481     History of Changes
Other Study ID Numbers: NCRR-M01RR01070-0470, MUSC-HR-8022
Study First Received: October 18, 1999
Last Updated: June 23, 2005
Health Authority: United States: Federal Government

Keywords provided by National Center for Research Resources (NCRR):
endocrine disorders
inborn errors of metabolism
rare disease
sitosterolemia

Additional relevant MeSH terms:
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Hypercholesterolemia
Intestinal Diseases
Genetic Diseases, Inborn
Lipid Metabolism Disorders
 Metabolic Diseases
Hyperlipidemias
Dyslipidemias
Gastrointestinal Diseases
Digestive System Diseases

ClinicalTrials.gov processed this record on May 19, 2013