Cardiovascular Evaluation of Patients With High Cholesterol and Normal Volunteers

This study has been completed.

Sponsor:

Information provided by (Responsible Party):

National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) )

ClinicalTrials.gov Identifier:

NCT00001204

First received: November 3, 1999

Last updated: November 11, 2014

Last verified: March 2014

History of Changes

Purpose

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.

Condition
Atherosclerosis Hypercholesterolemia


Study Type:	Observational
Official Title:	Cardiovascular Evaluation of Homozygous Familial Hypercholesterolemia

Resource links provided by NLM:

Genetics Home Reference related topics: hypercholesterolemia

MedlinePlus related topics: Atherosclerosis Cholesterol

Genetic and Rare Diseases Information Center resources: Hyperlipoproteinemia Type 2 Sphingolipidosis

U.S. FDA Resources

Further study details as provided by National Institutes of Health Clinical Center (CC):


Enrollment:	73
Study Start Date:	May 1985

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.

Eligibility


Ages Eligible for Study:	2 Years to 70 Years
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

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.

Contacts and Locations

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00001204

Locations


United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892

Sponsors and Collaborators

National Heart, Lung, and Blood Institute (NHLBI)

Investigators


Principal Investigator:	Robert D Shamburek, M.D.	National Heart, Lung, and Blood Institute (NHLBI)

More Information

Additional Information:

NIH Clinical Center Detailed Web Page This link exits the ClinicalTrials.gov site

Publications:

Hoeg JM. Familial hypercholesterolemia. What the zebra can teach us about the horse. JAMA. 1994 Feb 16;271(7):543-6.

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.

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.


Responsible Party:	National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) )
ClinicalTrials.gov Identifier:	NCT00001204 History of Changes
Other Study ID Numbers:	850105, 85-H-0105
Study First Received:	November 3, 1999
Last Updated:	November 11, 2014
Health Authority:	United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):


Dyslipoprotein Hypercholesterolemia Atherosclerosis

Additional relevant MeSH terms:


Atherosclerosis Hypercholesterolemia Arterial Occlusive Diseases Arteriosclerosis Cardiovascular Diseases	Dyslipidemias Hyperlipidemias Lipid Metabolism Disorders Metabolic Diseases Vascular Diseases

ClinicalTrials.gov processed this record on March 03, 2015

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