Bethesda, Maryland 20892

  • Evaluation of Plasma Lipoproteins

Purpose:

Lipoproteins are particles that carry fats such as cholesterol and triglycerides through the blood stream. These particles are involved in causing blood vessel disease that can lead to conditions like hardening of the arteries (atherosclerosis) or heart attacks (myocardial infarctions). This study is designed to look closely at the factors affecting lipoproteins. Researchers plan to study patients and normal volunteers by measuring lipoprotein levels in the blood. Patients and volunteers will be placed on a balanced diet during the study. In addition, researchers plan to measure levels of various hormone and enzymes in the blood. Patients and volunteers participating in the study may be asked to undergo more specific tests in order to collect more information about lipoprotein metabolism. This study may not provide direct benefits to patients and volunteers participating in it. However, information gathered from this study may help researchers develop better skills and techniques to diagnose and treat patients with diseases of lipoprotein metabolism.


Study summary:

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.


Criteria:

- INCLUSION CRITERIA: 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 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 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 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. EXCLUSION CRITERIA: Inability to provide informed consent.


Study is Available At:


Original ID:

790100


NCT ID:

NCT00001168


Secondary ID:

79-H-0100


Study Acronym:


Brief Title:

Evaluation of Lipoproteins


Official Title:

Teaching Protocol for the Evaluation of Plasma Lipoproteins


Overall Status:

Active, not recruiting


Study Phase:

N/A


Genders:

N/A


Minimum Age:

2 Years


Maximum Age:

99 Years


Quick Facts

Healthy Volunteers
Oversight Has DMC
Study Is FDA Regulated
Study Is Section 801
Has Expanded Access

Study Source:

National Institutes of Health Clinical Center (CC)


Oversight Authority:

United States: Federal Government


Reasons Why Stopped:


Study Type:

Observational


Study Design:


Number of Arms:

0


Number of Groups:

1


Total Enrollment:

1017


Enrollment Type:

Actual


Overall Contact Information

Official Name:Robert D Shamburek, M.D.
Principal Investigator
National Heart, Lung, and Blood Institute (NHLBI)

Study Dates

Start Date:January 1, 1979
Verification Date:April 17, 2021
Last Changed Date:April 22, 2021
First Received Date:November 3, 1999

Study Outcomes

Outcome Type:Secondary Outcome
Measure:Some of these patients may be candidates for enrollment in other Lipid Service research protocols.
Time Frame:six years
Safety Issues:False
Description:Some of these patients may be candidates for enrollment in other Lipid Service research protocols.
Outcome Type:Primary Outcome
Measure:screening and evaluation of individuals with potential disorders of lipid metabolism in order to provide training for professional Lipid Service staff in the evaluation and treatment of patients with genetic dyslipoproteinemias.
Time Frame:six years
Safety Issues:False
Description:Eligible

Study Interventions

There are no available Study Interventions

Study Arms

Study Arm Type:Other
Arm Name:Dyslipidemia
Description:Dyslipidemia

Study Agencies

Agency Class:NIH
Agency Type:Lead Sponsor
Agency Name:National Heart, Lung, and Blood Institute (NHLBI)

Samples and Retentions

Study Population: unlimited
Sample Method:Non-Probability Sample

Study References

Reference Type:Reference
Citation:Rouis M, Lohse P, Dugi KA, Lohse P, Beg OU, Ronan R, Talley GD, Brunzell JD, Santamarina-Fojo S. Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9-->Asn, Tyr262-->His). J Lipid Res. 1996 Mar;37(3):651-61.
PMID:8728326
Reference Type:Reference
Citation:Mann WA, Lohse P, Gregg RE, Ronan R, Hoeg JM, Zech LA, Brewer HB Jr. Dominant expression of type III hyperlipoproteinemia. Pathophysiological insights derived from the structural and kinetic characteristics of ApoE-1 (Lys146-->Glu). J Clin Invest. 1995 Aug;96(2):1100-7.
PMID:7635945
Reference Type:Reference
Citation:Klein HG, Duverger N, Albers JJ, Marcovina S, Brewer HB Jr, Santamarina-Fojo S. In vitro expression of structural defects in the lecithin-cholesterol acyltransferase gene. J Biol Chem. 1995 Apr 21;270(16):9443-7.
PMID:7721870

Data Source: ClinicalTrials.gov

Date Processed: July 29, 2021

Modifications to this listing: Only selected fields are shown, please use the link below to view all information about this clinical trial.


This study is not currently recruiting Study Participants. The form below is not enabled.