Molecular & Clinical Evaluation of Low HDL Syndromes

January 10, 2020 updated by: Michael Miller, University of Maryland, Baltimore
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.

Study Overview

Status

Completed

Conditions

Detailed Description

BACKGROUND:

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.

DESIGN NARRATIVE:

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.

Study Type

Observational

Enrollment (Anticipated)

370

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 100 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

Male

Description

No eligibility criteria

Study Plan

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

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Pedigree 1
Pedigree 2
Pedigree 3
Pedigree 4
Pedigree 5
Pedigree 6
Pedigree 7
Pedigree 8
Pedigree 9
Pedigree 10
Pedigree 11
Pedigree 12

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Gene discovery
Time Frame: 20 years
20 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Maryland, Baltimore

Collaborators

National Heart, Lung, and Blood Institute (NHLBI)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

August 1, 2000

Primary Completion (Actual)

July 1, 2006

Study Completion (Actual)

July 1, 2006

Study Registration Dates

First Submitted

September 25, 2000

First Submitted That Met QC Criteria

September 25, 2000

First Posted (Estimate)

September 26, 2000

Study Record Updates

Last Update Posted (Actual)

January 14, 2020

Last Update Submitted That Met QC Criteria

January 10, 2020

Last Verified

January 1, 2020

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 912
  • R01HL061369 (U.S. NIH Grant/Contract)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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