Completed

Evaluation of Plasma Lipoproteins and Training Protocol for Dyslipidemias

Study Aim

This study aims to screen and evaluate individuals with potential lipid metabolism disorders, providing training for professional Lipid Service staff in the evaluation and treatment of patients with genetic dyslipoproteinemias.

What is being collected

Behavioral Data

Collected from today forward - Prospective

Behavioral

Who is being recruted

Hyperlipidemias+9

+ Hyperlipoproteinemias

+ Lipid Metabolism, Inborn Errors

From 2 to 99 Years

+5 Eligibility Criteria

See all eligibility criteria

How is the trial designed

Cohort

Tracking disease incidence in order to identify risk factors and understand disease progression over time.

Observational

Study Start: January 1979

See protocol details

Summary

Principal SponsorNational Heart, Lung, and Blood Institute (NHLBI)

Last updated: May 22, 2026

Sourced from a government-validated database.Claim as a partner

Study start date: January 1, 1979

Actual date on which the first participant was enrolled.

The lipoprotein transport system is vital to the delivery of the hydrophobic fats that are carried in the aqueous environment of the blood. The lipoprotein particles that comprise this system are polydisperse and contain triglycerides, free and esterified cholesterol, phospholipids and proteins. Inborn errors in the lipoprotein transport system lead to alterations in both the steady state concentrations of the various lipoproteins and in the metabolism of these particles. These inborn errors lead to both hyperlipoproteinemia and hypolipoproteinemia. Profound changes in the ambient lipoprotein concentrations have a variety of clinical manifestations. The present study protocol is designed to permit a full evaluation of the lipids, lipoproteins, and apolipoproteins, in patients with potential genetic defects in these processes. The protocol will also permit training of students, staff clinicians, physician assistants, nurse practitioners, dieticians and post-doctoral fellows in the evaluation and treatment of patients with dyslipidemias. The study population will include patients which are referred to the Lipid Service from private care providers, academic institutions, or the NHLBI Lipid website, with any of the following potential lipid abnormalities or clinical stigmata associated with dyslipoproteinemias: a) increased plasma levels of cholesterol, triglycerides, HDL-cholesterol or LDL-cholesterol b) decreased plasma concentrations of cholesterol and HDL-cholesterol c) postprandial hyperlipidemia or d) eruptive xanthomas, xanthelasma, tuberous or tendinous xanthomas, or corneal opacities.

NCT00001168

Principal SponsorNational Heart, Lung, and Blood Institute (NHLBI)

Last updated: May 22, 2026

Sourced from a government-validated database.Claim as a partner

Protocol

This section provides details of the study plan, including how the study is designed and what the study is measuring.

Design Details

1017 patients to be enrolled

Total number of participants that the clinical trial aims to recruit.

Cohort

These studies follow a group of individuals with common characteristics (such as a condition or birth year) over a specific period to study health outcomes or exposures.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.

Conditions

Criteria

Any sex

Biological sex of participants that are eligible to enroll.

From 2 to 99 Years

Range of ages for which participants are eligible to join.

Healthy volunteers not allowed

If individuals who are healthy and do not have the condition being studied can participate.

Conditions

Pathology

HyperlipidemiasHyperlipoproteinemiasLipid Metabolism, Inborn ErrorsMetabolic DiseasesMetabolism, Inborn ErrorsCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesNutritional and Metabolic DiseasesGenetic Diseases, InbornDyslipidemiasLipid Metabolism DisordersHypercholesterolemiaHyperlipoproteinemia Type III

Criteria

4 inclusion criteria required to participate

Plasma HDL-C levels greater than 70 mg/dl or less than 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, and Tangier disease

Plasma LDL-C levels greater than 130 mg/dl or less than 70 mg/dl - includes patients with diagnoses such as familial hypercholesterolemia, familial combined hyperlipidemia, lipoprotein lipase, hepatic lipase, or apo-CII deficiency, sitosterolemia, dysbetalipoproteinemia, abetalipoproteinemia and hypobetalipoproteinemia

Plasma cholesterol levels greater than 200 mg/dl or less than 120 mg/dl - includes patients with diagnoses such as familial hypercholesterolemia, familial combined hyperlipidemia, sitosterolemia, cholesteryl ester storage disease, Erdheim chester disease, lipoprotein lipase, hepatic lipase or apo-CII deficiency, and dysbetalipoproteinemia

Plasma triglyceride levels greater than 150 mg/dl - includes patients with deficiency of lipoprotein lipase, hepatic lipase or apoC-II, dysbetalipoproteinemia, Type IV and Type V hyperlipidemia

1 exclusion criteria prevent from participating

Inability to provide informed consent

Study Plan

Find out more about all the medication administered in this study, their detailed description and what they involve.

Treatment Groups

Study Objectives

One single intervention group is designated in this study

This study does not include a placebo group

Treatment Groups

Study Objectives

Primary Objectives

Secondary Objectives

Study Centers

These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.

This study has 1 location

National Institutes of Health Clinical Center

Bethesda, United StatesOpen National Institutes of Health Clinical Center in Google Maps

CompletedOne Study Center