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Molecular & Clinical Evaluation of Low HDL Syndromes

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00006295
Recruitment Status : Completed
First Posted : September 26, 2000
Last Update Posted : January 14, 2020
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Michael Miller, University of Maryland, Baltimore

Brief Summary:
To study the genetic cause of low HDL-C, a risk factor for premature atherosclerotic vascular disease in patients with normal total cholesterol. The focus is primarily on the identification of a single mutation, as has been demonstrated in one family.

Condition or disease
Cardiovascular Diseases Heart Diseases Atherosclerosis

Detailed Description:


Low levels of high density lipoprotein cholesterol (HDL-C) have been found to be associated with an increased risk for coronary artery disease (CAD). However, the genetic basis for this association is not well understood and the clinical implications of this association have not been extensively addressed. The study, in seeking to elucidate the genetic basis for low HDL-C and examine the clinical implications of low HDL-C, focuses upon an important research topic.


Specific aims of the study include: 1) Collection and characterization of plasma and DNA from probands with very low HDL-C. Linkage analysis will be performed using highly polymorphic markers within or near HDL-C candidate genes. The hypothesis to be tested is that polymorphic microsatellites segregate with the low HDL-C phenotype.

2) Further genetic characterization of families evidence of linkage to specific HDL-C candidate genes identified in Specific Aim 1. The hypothesis to be tested is that structural variants in HDL-C candidates are responsible for low HDL-C.

3) Evaluate the physiologic significance of novel genomic variants identified in Specific Aim 2. The hypothesis to be tested is that structural variants will affect expression of the gene product.

4) Examine early atherosclerosis in low HDL-C syndromes. The hypothesis to be tested is that increased carotid intima-medial thickness is prevalent with isolated low HDL-C.

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Study Type : Observational
Estimated Enrollment : 370 participants
Observational Model: Family-Based
Time Perspective: Prospective
Study Start Date : August 2000
Actual Primary Completion Date : July 2006
Actual Study Completion Date : July 2006

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Primary Outcome Measures :
  1. Gene discovery [ Time Frame: 20 years ]

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
No eligibility criteria

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Responsible Party: Michael Miller, Professor of Cardiovascular Medicine, University of Maryland, Baltimore Identifier: NCT00006295    
Other Study ID Numbers: 912
R01HL061369 ( U.S. NIH Grant/Contract )
First Posted: September 26, 2000    Key Record Dates
Last Update Posted: January 14, 2020
Last Verified: January 2020

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Cardiovascular Diseases
Heart Diseases
Arterial Occlusive Diseases
Vascular Diseases