Understanding Dyslipidemias and Atherosclerosis

This observational study is looking at people with dyslipidemias (disorders affecting fat levels in the blood), such as high or low cholesterol. These conditions can lead to atherosclerosis (hardening of the arteries) and heart problems. The study aims to better understand how fats like cholesterol and triglycerides are carried in the blood and how genetic differences might affect these processes. You would undergo standard medical tests and procedures to help doctors accurately diagnose and treat these conditions, especially those that are harder to identify with routine tests. The study is open to children and adults aged 2 to 100 years who have dyslipidemia.

Study design
This is an observational study planning to enroll 2000 participants. It is not testing a specific intervention or drug.
What's involved
Participants will undergo accepted medical tests and procedures to evaluate their condition. Most test results will help with diagnosis and treatment.
Compensation
Not stated in the trial record.
Follow-up
The primary goal is to evaluate lipoprotein metabolism over 25 years to help diagnose and treat potential genetic defects.

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NCT00353782

Causes and Natural History of Dyslipidemias

Recruiting
Not specifiedAges 2+Observational
National Heart, Lung, and Blood Institute (NHLBI)
~2,000 participants
Updated 2026-08-18 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
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
Measured over 25 years
Hypercholesterolemia
Atherosclerosis
1 sites across 1 states
Maryland1
  • Robert D Shamburek, M.D. · PRINCIPAL_INVESTIGATOR · National Heart, Lung, and Blood Institute (NHLBI)

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Eligibility criteria

Inclusion

Children \>= 2 years of age and \>12 kg and adults
Dyslipidemia subjects of interest the group
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.
  • 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 processes25 years

    Evaluate Lipids