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NCT00001204 Clinical Trial

Cardiovascular Evaluation of Patients With High Cholesterol and Normal Volunteers

Homozygous Familial Hypercholesterolemic Clinical Trial

Official title:
Cardiovascular Evaluation of Homozygous Familial Hypercholesterolemia

Clinical Trial Details — Status: Completed

Administrative data
NCT number NCT00001204
Other study ID # 850105
Secondary ID 85-H-0105
Status Completed
Phase
First received
Last updated
Start date January 7, 1992

Study information
Verified date September 29, 2023
Source National Institutes of Health Clinical Center (CC)
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.

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.

Recruitment information / eligibility
Status Completed
Enrollment 73
Est. completion date
Est. primary completion date
Accepts healthy volunteers No
Gender All
Age group 2 Years to 70 Years
Eligibility - INCLUSION CRITERIA: Fasting cholesterol greater than 500 mg/dl, low density lipoprotein cholesterol greater than 400 mg/dl, and triglycerides less than mg/dl. Family history of hypercholesterolemia and/or cardiovascular disease before the age of 60 years. Tendinous and tuberous xanthomas. Arcus corneae before the age of 30.

Study Design

Related Conditions & MeSH terms

Locations
Country Name City State
United States National Institutes of Health Clinical Center Bethesda Maryland

Sponsors (1)
Lead Sponsor Collaborator
National Heart, Lung, and Blood Institute (NHLBI)

Country where clinical trial is conducted

United States, 

References & Publications (3)

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. — View Citation

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. — View Citation

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. — View Citation

Outcome
Type Measure Description Time frame Safety issue
Primary We propose performing longitudinal sequential cardiologic studies utilizing noninvasive techniques in homozygous patients with well-characterized LDL receptor defects. Descriptive data one year
Secondary Current work has focused on identifying new noninvasive measurements of CAD and quantitating atherosclerosis burden. Current work has focused on identifying new noninvasive measurements of CAD and quantitating atherosclerosis burden. one year

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