NCT00001204|Completed
Cardiovascular Evaluation of Patients With High Cholesterol and Normal Volunteers
Cardiovascular Evaluation of Homozygous Familial Hypercholesterolemia
Loading search results
Cardiovascular Evaluation of Homozygous Familial Hypercholesterolemia
Sponsor study identifier
Secondary identifiers
observational
73
1 country
1
Study Start
January 7, 1992
Actual (reported)Primary Completion
Not reported
Date not reportedStudy Completion
Not reported
Date not reportedHomozygous 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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
Not reported
Date not reportedClick on a node to explore related trials.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
January 7, 1992
Actual (reported)November 3, 1999
Actual (reported)November 4, 1999
Actual (reported)We propose performing longitudinal sequential cardiologic studies utilizing noninvasive techniques in homozygous patients with well-characterized LDL receptor defects.
Descriptive data
one year
Current work has focused on identifying new noninvasive measurements of CAD and quantitating atherosclerosis burden.
one year
Longitudinal sequential cardiologic studies utilizing noninvasive techniques in homozygous patients with well-characterized LDL receptor defects
Familial hypercholesterolemia
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
Hoeg JM. Familial hypercholesterolemia. What the zebra can teach us about the horse. JAMA. 1994 Feb 16;271(7):543-6. doi: 10.1001/jama.271.7.543. No abstract available.
Sprecher DL, Hoeg JM, Schaefer EJ, Zech LA, Gregg RE, Lakatos E, Brewer HB Jr. The association of LDL receptor activity, LDL cholesterol level, and clinical course in homozygous familial hypercholesterolemia. Metabolism. 1985 Mar;34(3):294-9. doi: 10.1016/0026-0495(85)90015-0.
Robert D Shamburek, M.D.
National Heart, Lung, and Blood Institute (NHLBI)
73 participants (actual enrollment reported by the registry).
First Submitted
November 3, 1999
First Posted
November 4, 1999
Study Start
January 7, 1992
Actual (reported)Contact the study team to confirm eligibility.
Schmidt HH, Hill S, Makariou EV, Feuerstein IM, Dugi KA, Hoeg JM. Relation of cholesterol-year score to severity of calcific atherosclerosis and tissue deposition in homozygous familial hypercholesterolemia. Am J Cardiol. 1996 Mar 15;77(8):575-80. doi: 10.1016/s0002-9149(97)89309-5.
Last Updated
October 16, 2026
Record last verified: 2026-07-28
Download the complete ClinicalTrials.gov record imported by Syfrah, including fields not shown in this page. The registry may contain a newer revision.
Source: ClinicalTrials.gov.
JSON downloads include source attribution and retrieval details alongside the unchanged original record or the separately normalized values.
Source retrieved: