Cardiovascular Evaluation of Patients With High Cholesterol and Normal Volunteers
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ClinicalTrials.gov Identifier: NCT00001204 |
Recruitment Status
:
Completed
First Posted
: November 4, 1999
Last Update Posted
: March 29, 2018
|
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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 or disease |
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Atherosclerosis Hypercholesterolemia |
Study Type : | Observational |
Actual Enrollment : | 73 participants |
Official Title: | Cardiovascular Evaluation of Homozygous Familial Hypercholesterolemia |
Study Start Date : | May 28, 1985 |


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Ages Eligible for Study: | 2 Years to 70 Years (Child, Adult, Senior) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
- 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.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00001204
United States, Maryland | |
National Institutes of Health Clinical Center, 9000 Rockville Pike | |
Bethesda, Maryland, United States, 20892 |
Principal Investigator: | Robert D Shamburek, M.D. | National Heart, Lung, and Blood Institute (NHLBI) |
Additional Information:
Publications:
Responsible Party: | National Heart, Lung, and Blood Institute (NHLBI) |
ClinicalTrials.gov Identifier: | NCT00001204 History of Changes |
Other Study ID Numbers: |
850105 85-H-0105 |
First Posted: | November 4, 1999 Key Record Dates |
Last Update Posted: | March 29, 2018 |
Last Verified: | February 8, 2018 |
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) ):
Dyslipoprotein Hypercholesterolemia Atherosclerosis |
Additional relevant MeSH terms:
Atherosclerosis Hypercholesterolemia Arteriosclerosis Arterial Occlusive Diseases Vascular Diseases |
Cardiovascular Diseases Hyperlipidemias Dyslipidemias Lipid Metabolism Disorders Metabolic Diseases |