Cardiovascular Evaluation of Patients With High Cholesterol and Normal Volunteers

Completed

• Conditions: Homozygous Familial Hypercholesterolemic

• Registration Number: NCT00001204
• Lead Sponsor: National Heart, Lung, and Blood Institute (NHLBI)

Brief Summary

Homozygous familial hypercholesterolemia is a rare inherited disease of metabolism. It occurs in less than 1 in 1 million people within the United States. Patients with the disease are typically children and young adults who develop heart disease early in life. Children less than age 5 years with this disease have suffered heart attacks and death.

The normal process that removes cholesterol particles from the blood stream does not work in patients with this disease. It causes cholesterol to build-up in the arteries and leads to hardening of the arteries (atherosclerosis).

The goal of this study is to detect and measure atherosclerosis in these patients before it becomes permanent and potentially life threatening. Patients with this disease can participate in this study. Researchers plan to evaluate patients with homozygous familial hypercholesterolemia using new and standard methods for detecting atherosclerosis.

Researchers plan to use information gathered during this study to develop new, promising treatments such as liver transplantation and gene therapy.

Detailed Description

Familial hypercholesterolemia is an autosomal co-dominant disorder resulting in abnormal LDL receptor function, profoundly elevated concentrations of low density lipoproteins, accelerated atherosclerosis and death by early adulthood. This disease is heterogeneous in both the degree of LDL receptor dysfunction as well as the age of death. Liver transplantation has been demonstrated to virtually normalize plasma lipoprotein concentrations in homozygous FH and the recent cloning of a functional LDL receptor gene holds promise in the definitive treatment of this condition. We propose performing longitudinal sequential cardiologic studies utilizing noninvasive techniques in homozygous patients with well-characterized LDL receptor defects. Sequential cardiovascular study of these patients will not only characterize the progression of atherosclerosis heart disease in this disease, it may also permit the identification of individuals with would be likely to benefit from liver transplantation and/or genetic engineering.

Study Timeline

• Study Start: 1992-01-07
• Study First Submitted: 1999-11-03
• Study First Submitted QC: 1999-11-03
• Study First Posted: 1999-11-04
• Status Verified: 2024-09-16
• Last Update Submitted: 2025-04-11
• Last Update Posted: 2025-04-15

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 73

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
We propose performing longitudinal sequential cardiologic studies utilizing noninvasive techniques in homozygous patients with well-characterized LDL receptor defects.	one year	Descriptive data

Secondary Outcome Measures

Name	Time	Method
Current work has focused on identifying new noninvasive measurements of CAD and quantitating atherosclerosis burden.	one year	Current work has focused on identifying new noninvasive measurements of CAD and quantitating atherosclerosis burden.

Trial Locations

Locations (1)

National Institutes of Health Clinical Center; 🇺🇸 Bethesda, Maryland, United States