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Protocol Details

Cardiovascular Evaluation of Homozygous Familial Hypercholesterolemia

This study is NOT currently recruiting participants.

Summary | Eligibility | Citations | Contacts

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
Max Age: 70

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.

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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.


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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

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Contacts:

Principal Investigator

Referral Contact

For more information:

Robert D. Shamburek, M.D.
National Heart, Lung and Blood Institute (NHLBI)
NIHBC 10 - CRC BG RM 5-3581
10 CENTER DR
BETHESDA MD 20892
(301) 496-3460
bobs@mail.nih.gov

Robert D. Shamburek, M.D.
National Heart, Lung and Blood Institute (NHLBI)
NIHBC 10 - CRC BG RM 5-3581
10 CENTER DR
BETHESDA MD 20892
(301) 496-3460
bobs@mail.nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1
ccopr@nih.gov

Clinical Trials Number:

NCT00001204

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