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OpenTrials
Completed

NCT Number: NCT00004481

Genetic Study of Sitosterolemia

OBJECTIVES:

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

Completed

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Key information

Conditions

Lipid Metabolism, Inborn Errors Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease Attributes Endocrine System Diseases Genetic Diseases, Inborn Lipid Metabolism Disorders Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Rare Diseases Sitosterolemia

Age range

0 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Medical University of South Carolina

Charleston, South Carolina, 29425-0721, United States

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

genetic testing

Procedure

Sponsors and collaborators

Lead sponsor

National Center for Research Resources (NCRR)

Nih

Collaborators

  • Medical University of South Carolina

Registry information

Important dates

Study start
1999
First posted
Oct 19, 1999
Registry last updated
Jun 24, 2005

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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