Cardiovascular Evaluation of Patients With High Cholesterol and Normal Volunteers

NCT00001204 | Completed

• 2 other identifiers: 85010585-H-0105
• Study Type: observational
• Target: 73
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Homozygous Familial Hypercholesterolemic

Keywords

Dyslipoproteinemia; Hypercholesterolemia; Atherosclerosis; Natural History

Outcome Measures

Primary Outcomes (1)

• We propose performing longitudinal sequential cardiologic studies utilizing noninvasive techniques in homozygous patients with well-characterized LDL receptor defects.

  Descriptive data

  one year

Secondary Outcomes (1)

• Current work has focused on identifying new noninvasive measurements of CAD and quantitating atherosclerosis burden.

  one year

Study Arms (1)

1

Longitudinal sequential cardiologic studies utilizing noninvasive techniques in homozygous patients with well-characterized LDL receptor defects

Eligibility Criteria

• Age: 2 Years - 70 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Familial hypercholesterolemia

You may qualify if:

• 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.

Sponsors & Collaborators

• National Heart, Lung, and Blood Institute (NHLBI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Hoeg JM. Familial hypercholesterolemia. What the zebra can teach us about the horse. JAMA. 1994 Feb 16;271(7):543-6. doi: 10.1001/jama.271.7.543. No abstract available.

  PMID: 8301770 BACKGROUND

• Sprecher DL, Hoeg JM, Schaefer EJ, Zech LA, Gregg RE, Lakatos E, Brewer HB Jr. The association of LDL receptor activity, LDL cholesterol level, and clinical course in homozygous familial hypercholesterolemia. Metabolism. 1985 Mar;34(3):294-9. doi: 10.1016/0026-0495(85)90015-0.

  PMID: 3856094 BACKGROUND

• Schmidt HH, Hill S, Makariou EV, Feuerstein IM, Dugi KA, Hoeg JM. Relation of cholesterol-year score to severity of calcific atherosclerosis and tissue deposition in homozygous familial hypercholesterolemia. Am J Cardiol. 1996 Mar 15;77(8):575-80. doi: 10.1016/s0002-9149(97)89309-5.

  PMID: 8610605 BACKGROUND

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Dyslipidemias; Hypercholesterolemia; Atherosclerosis

Condition Hierarchy (Ancestors)

Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Hyperlipidemias; Arteriosclerosis; Arterial Occlusive Diseases; Vascular Diseases; Cardiovascular Diseases

Study Officials

• Robert D Shamburek, M.D.

  National Heart, Lung, and Blood Institute (NHLBI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 3, 1999
• First Posted: November 4, 1999
• Study Start: January 7, 1992
• Last Updated: July 30, 2026

Record last verified: 2026-07-28

Locations

US (1)