Recruiting

Observational Study

Sponsor:

National Heart, Lung, and Blood Institute (NHLBI)

Code:

NCT00353782

Conditions

Hypercholesterolemia

Atherosclerosis

Eligibility Criteria

Sex: All

Age: 2 - 70+

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

Hypercholesterolemia

Atherosclerosis

Study ID

NCT00353782

Start date

Oct 14, 2003

Status verified date

Jun 5, 2026

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 2 - 70+

Healthy Volunteers: Not accepted

  • INCLUSION CRITERIA:
  • 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.

Study Design

Enrollment

2000 participants

Anticipated

Interventions and Outcome Measures

Arms

Dyslipidemia

Dyslipidemia

Primary outcome measure

  • 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 [ Time Frame: 25 years ]

Central Contacts and Locations

Central contacts

Robert D Shamburek, M.D.

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

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

More Information

Sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Last update posted

Sep 1, 2026

Last verified

Jun 5, 2026

Keywords

  • Triglyceride
  • Phospholipids
  • Free and Esterfied Cholesterol
  • Polydisperse
  • Lipoprotein Transport System
  • Natural History

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Heart, Lung, and Blood Institute (NHLBI) on 2026-09-01.