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NCT00004481 Clinical Trial

Genetic Study of Sitosterolemia

Lipid Metabolism, Inborn Errors Clinical Trial

Clinical Trial Details — Status: Completed

Administrative data
NCT number NCT00004481
Other study ID # NCRR-M01RR01070-0470
Secondary ID MUSC-HR-8022
Status Completed
Phase N/A
First received October 18, 1999
Last updated June 23, 2005
Start date November 1999

Study information
Verified date January 2004
Source National Center for Research Resources (NCRR)
Contact n/a
Is FDA regulated No
Health authority United States: Federal Government
Study type Observational

Clinical Trial Summary

OBJECTIVES:

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

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.

Recruitment information / eligibility
Status Completed
Enrollment 0
Est. completion date
Est. primary completion date
Accepts healthy volunteers Accepts Healthy Volunteers
Gender Both
Age group N/A and older
Eligibility 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

Study Design

Observational Model: Natural History

Related Conditions & MeSH terms

Intervention

Procedure:
• genetic testing

Locations
Country Name City State
United States Medical University of South Carolina Charleston South Carolina

Sponsors (2)
Lead Sponsor Collaborator
National Center for Research Resources (NCRR) Medical University of South Carolina

Country where clinical trial is conducted

United States, 

See also
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Completed NCT00092898 - An Investigational Drug Study to Lower Non-Cholesterol Sterol Levels Associated With Sitosterolemia (0653-062)(COMPLETED) Phase 3
Completed NCT00477594 - Open Label Extension of ISIS 301012 (Mipomersen) to Treat Familial Hypercholesterolemia Phase 2
Not yet recruiting NCT02707211 - Anti-oxLDL IgM Antibodies as a Novel Therapy for Metabolic Lipid Diseases Phase 0
Active, not recruiting NCT05425745 - Evaluate the Effect of Obicetrapib in Patients With HeFH on Top of Maximum Tolerated Lipid-Modifying Therapies. Phase 3
Completed NCT00607373 - Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia Phase 3
Completed NCT00362180 - Measure Liver Fat Content After ISIS 301012 (Mipomersen) Administration Phase 2
Terminated NCT00092833 - Investigational Drug in Patients With Hypercholesterolemia or in Patients With Sitosterolemia (0653-026)(COMPLETED) Phase 3
Active, not recruiting NCT02635269 - Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy N/A
Terminated NCT00260299 - Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency
Completed NCT00092807 - Sitosterolemia Extension Study (0653-003)(COMPLETED) Phase 3
Completed NCT00092820 - Sitosterolemia Extension Study (0653-004)(COMPLETED) Phase 3
Completed NCT00694109 - An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 (Mipomersen) in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia Phase 3