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Cardiovascular Evaluation of Patients With High Cholesterol and Normal Volunteers

NCT00001204 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 73

Last updated 2026-05-22

No results posted yet for this study

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.

Conditions

  • Homozygous Familial Hypercholesterolemic

Sponsors & Collaborators

  • National Heart, Lung, and Blood Institute (NHLBI)

    lead NIH

Principal Investigators

  • Robert D Shamburek, M.D. · National Heart, Lung, and Blood Institute (NHLBI)

Eligibility

Min Age
2 Years
Max Age
70 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
1992-01-07

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00001204 on ClinicalTrials.gov