Protocol Details
Cardiovascular Evaluation of Homozygous Familial Hypercholesterolemia
This study is NOT currently recruiting participants.
Summary
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) |
None |
Condition(s) |
Homozygous Familial Hypercholesterolemic |
Investigational Drug(s) |
None |
Investigational Device(s) |
None |
Intervention(s) |
None |
Supporting Site |
National Heart, Lung, and Blood Institute |
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.
Eligibility
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.
Citations:
Familial hypercholesterolemia: what the zebra can teach us about the horse
The association of LDL receptor activity, LDL cholesterol level, and clinical course in homozygous familial hypercholesterolemia
Relation of cholesterol-year score to severity of calcific atherosclerosis and tissue deposition in homozygous familial hypercholesterolemia
Contacts:
Clinical Trials Number:
NCT00001204