This study is NOT currently recruiting participants.
Number
85-H-0105
Sponsoring Institute
National Heart, Lung and Blood Institute (NHLBI)
Recruitment Detail
Type: Completed Study; data analyses ongoing Gender: Male & Female Min Age: 2 Years Max Age: 70 Years
Referral Letter Required
Yes
Population Exclusion(s)
None
Keywords
Dyslipoproteinemia; Hypercholesterolemia; Atherosclerosis; Natural History
Recruitment Keyword(s)
Condition(s)
Homozygous Familial Hypercholesterolemic
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Heart, Lung, and Blood Institute
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.
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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.
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.
Principal Investigator
Referral Contact
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