NCT00353782

Brief Summary

This study will evaluate people with dyslipidemias - disorders that affect the fat content in the blood. Fats, or lipids, such as cholesterol and triglycerides, are carried in the blood in particles called lipoproteins. These particles are involved in causing blood vessel diseases that can lead to conditions like atherosclerosis (hardening of the arteries) or heart attack. Participants will undergo accepted medical tests and procedures to evaluate their condition. Most of the test results are helpful in making a diagnosis and in guiding treatment. People with lipid disorders are eligible for this study. Representative types of patients include those with:

  • Plasma cholesterol levels greater than 200 mg/dl or less than 120 mg/dl
  • Plasma LDL-C levels greater than 130 mg/dl or less than 70 mg/dl
  • Plasma HDL-C levels greater than 70 mg/dl or less than 25 mg/dl
  • Unusual cholesterol deposits or xanthomas (nodules of lipid deposits on the skin) Children under 2 years of age are excluded from the study. Participants will undergo some or all of the following procedures: \- Plasma evaluation. Apolipoproteins (plasma proteins involved in metabolism of cholesterol, triglycerides, phospholipids, and proteins in the blood) and enzymes involved in lipid metabolism are measured....

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
2,000

participants targeted

Target at P75+ for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

October 14, 2003

Completed
2.8 years until next milestone

First Submitted

Initial submission to the registry

July 18, 2006

Completed
1 day until next milestone

First Posted

Study publicly available on registry

July 19, 2006

Completed
Last Updated

March 31, 2026

Status Verified

October 14, 2025

First QC Date

July 18, 2006

Last Update Submit

March 28, 2026

Conditions

HypercholesterolemiaAtherosclerosis

Keywords

TriglyceridePhospholipidsFree and Esterfied CholesterolPolydisperseLipoprotein Transport SystemNatural History

Outcome Measures

Primary Outcomes (1)

  • permit a full evaluation of the lipoproteins, apolipoproteins, and cellular enzymes and receptors relevant to lipoprotein metabolism in order to accurately diagnose and treat patients with potential genetic defects in these processes

    Evaluate Lipids

    25 years

Study Arms (1)

Dyslipidemia

Dyslipidemia

Eligibility Criteria

Age2 Years - 100 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Unlimited

You may qualify if:

  • Children \>= 2 years of age and \>12 kg and adults
  • Dyslipidemia subjects of interest the group
  • The following is a representative list of the types of patient presentations with dyslipidemia and potential diagnoses eligible for this protocol:
  • Plasma cholesterol levels \>200 mg/dl or \<120 mg/dl includes patients with diagnoses such as familial hypercholesterolemia, familial combined hyperlipidemia, sitosterolemia, lipoprotein lipase, hepatic lipase or apo-CII deficiency, and dysbetalipoproteinemia.
  • Plasma LDL-C levels \>130 mg/dl or \<70 mg/dl includes patients with diagnoses such as familial hypercholesterolemia, PCSK9, apo3500, familial combined hyperlipidemia, sitosterolemia, dysbetalipoproteinemia, abetalipoproteinemia and hypobetalipoproteinemia.
  • Plasma HDL-C levels \>70 mg/dl or \<25 mg/dl includes patients with deficiency of cholesteryl ester transfer protein, lecithin cholesterol acyltransferase, phospholipid transfer protein, lipoprotein lipase, hepatic lipase, or apo-CII, ANGPTL3, and Tangier disease.
  • Plasma triglyceride levels \>150 mg/dl includes patients with deficiency of lipoprotein lipase, hepatic lipase or apoC-II, GPIHBP1, LMF1, dysbetalipoproteinemia, Type I, Type IV and Type V hyperlipidemia.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (3)

  • Iverius PH, Ostlund-Lindqvist AM. Preparation, characterization, and measurement of lipoprotein lipase. Methods Enzymol. 1986;129:691-704. doi: 10.1016/0076-6879(86)29099-0. No abstract available.

    PMID: 3523161BACKGROUND

  • Santamarina-Fojo S, Brewer HB Jr. The familial hyperchylomicronemia syndrome. New insights into underlying genetic defects. JAMA. 1991 Feb 20;265(7):904-8. No abstract available.

    PMID: 1992190BACKGROUND

  • Chait A, Iverius PH, Brunzell JD. Lipoprotein lipase secretion by human monocyte-derived macrophages. J Clin Invest. 1982 Feb;69(2):490-3. doi: 10.1172/jci110473.

    PMID: 7056857BACKGROUND

Related Links

MeSH Terms

Conditions

HypercholesterolemiaAtherosclerosis

Condition Hierarchy (Ancestors)

HyperlipidemiasDyslipidemiasLipid Metabolism DisordersMetabolic DiseasesNutritional and Metabolic DiseasesArteriosclerosisArterial Occlusive DiseasesVascular DiseasesCardiovascular Diseases

Study Officials

  • Robert D Shamburek, M.D.

    National Heart, Lung, and Blood Institute (NHLBI)

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Robert D Shamburek, M.D.

CONTACT

(301) 496-3460bobs@mail.nih.gov

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Sponsor Type
NIH
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 18, 2006

First Posted

July 19, 2006

Study Start

October 14, 2003

Last Updated

March 31, 2026

Record last verified: 2025-10-14

Locations

US(1)