NCT00004481

Brief Summary

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

Trial Health

80
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

October 18, 1999

Completed
1 day until next milestone

First Posted

Study publicly available on registry

October 19, 1999

Completed
13 days until next milestone

Study Start

First participant enrolled

November 1, 1999

Completed
Last Updated

June 24, 2005

Status Verified

January 1, 2004

First QC Date

October 18, 1999

Last Update Submit

June 23, 2005

Conditions

Lipid Metabolism, Inborn ErrorsSitosterolemia

Keywords

endocrine disordersinborn errors of metabolismrare diseasesitosterolemia

Interventions

genetic testingPROCEDURE

Eligibility Criteria

Age0 Years+
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
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

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

Study Sites (1)

Medical University of South Carolina

Charleston, South Carolina, 29425-0721, United States

Location

MeSH Terms

Conditions

Lipid Metabolism, Inborn ErrorsSitosterolemiaEndocrine System DiseasesMetabolism, Inborn ErrorsRare Diseases

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Genetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesLipid Metabolism DisordersMetabolic DiseasesNutritional and Metabolic DiseasesDisease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Clinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisInvestigative TechniquesGenetic TechniquesGenetic ServicesHealth ServicesHealth Care Facilities Workforce and ServicesDiagnostic ServicesPreventive Health Services

Study Officials

  • Shailesh B. Patel

    Medical University of South Carolina

    STUDY CHAIR

Study Design

Study Type
observational
Observational Model
NATURAL HISTORY
Sponsor Type
NIH

Study Record Dates

First Submitted

October 18, 1999

First Posted

October 19, 1999

Study Start

November 1, 1999

Last Updated

June 24, 2005

Record last verified: 2004-01

Locations

US(1)