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Protocol Number:
85-H-0105
- Title:
Cardiovascular Evaluation of Homozygous Familial Hypercholesterolemia
- 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:
No longer recruiting/follow-up only
- Gender:
Male & Female
- Referral Letter Required:
Yes
- Population Exclusion(s):
None
- Eligibility Criteria:
This study is not currently recruiting new subjects. If you have questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
- 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.
- Keyword(s):
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Dyslipoprotein
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Hypercholesterolemia
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Atherosclerosis
- Recruitment Keyword(s):
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None
- Condition(s):
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Atherosclerosis
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Hypercholesterolemia
- Investigational Drug(s):
- None
- Investigational Device(s):
- None
- Interventions:
- None
- Supporting Site:
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National Heart, Lung and Blood Institute
- Contact(s):
-
This study is not currently recruiting new subjects. If you have questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
- Citation(s):
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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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National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 01/30/2009
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