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Protocol Number:
85-H-0105
- Title:
Cardiovascular Evaluation of Patients with Familial Hypercholesterolemia and Normal Individuals
- Number:
85-H-0105
- 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.
- Sponsoring Institute:
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National Heart, Lung and Blood Institute (NHLBI)
- Recruitment Detail
- Type:
Active Accrual Of New Subjects
- Gender:
Male & Female
- Referral Letter Required:
Yes
- Population Exclusion(s):
None
- Eligibility 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.
- Special Instructions:
This protocol studies the long term effects of your disease. Therefore, you will be asked to visit the NIH once a year for the next five years so that we can follow the progression of your disease.
- Keywords:
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Dyslipoprotein
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Hypercholesterolemia
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Atherosclerosis
- Recruitment Keywords:
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None
- Conditions:
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Atherosclerosis
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Hypercholesterolemia
- Investigational Drug(s):
- None
- Investigational Device(s):
- None
- Contacts:
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Patient Recruitment and Public Liaison Office
Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 Electronic Mail:prpl@mail.cc.nih.gov
- Citations:
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Familial hypercholesterolemia: what the zebra can teach us about the horse
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The association of LDL receptor activity, LDL cholesterol level, and clinical course in homozygous familial hypercholesterolemia
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Relation of cholesterol-year score to severity of calcific atherosclerosis and tissue deposition in homozygous familial hypercholesterolemia
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Warren Grant Magnuson Clinical Center (CC) National Institutes of Health (NIH)
Bethesda, Maryland 20892. Last update: 10/20/2004
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