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Elevated Serum HDL in Four Generations of a Nashville Family

This study has been terminated.
(Unable to complete enrollment due lack of family interest.)
Information provided by (Responsible Party):
James Muldowney, Vanderbilt University Identifier:
First received: September 4, 2007
Last updated: March 16, 2017
Last verified: March 2017
The purpose of this study is to determine the genetic basis of one family's hereditary hyper-HDL-emia using multiple modalities such as linkage analysis and gene array.

Condition Intervention
Hyperlipidemias Other: No Intervention

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Elevated Serum HDL in Four Generations of a Nashville Family

Further study details as provided by James Muldowney, Vanderbilt University:

Biospecimen Retention:   Samples With DNA
Plasma, Serum, DNA

Enrollment: 3
Study Start Date: June 2004
Study Completion Date: June 2006
Primary Completion Date: June 2006 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Single family cohort
Other: No Intervention
No intervention

Detailed Description:
HDL, or good cholesterol, has been shown to protect against heart attack and stroke. How HDL works as a protective agent is not well understood. There is a family that has 4 generations of living members with high HDL level. In the study, after consent is obtained, we will obtain 2 tablespoons of blood from all the family members in order to study their cholesterol levels and to obtain DNA in order to determine if there is a pattern of inheritance for this trait. We will also have them fill out a questionnaire about their medical history, diet and activity level as all of these can affect their HDL levels. In addition we will obtain additional blood (about 2 tablespoons) for plasma, white blood cells and also perform a biopsy to obtain skin cells from a matched pair of family members with and without the trait in order to determine which genes might be turned on and off because of this trait. We also wish to study other families who have members with high HDL cholesterol as well. These individuals will be identified from a core database.

Ages Eligible for Study:   5 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Inclusion Criteria:

  • 26 living members of a family with HDL levels greater than 90mg/dl and several of whom will act as related age matched controls.
  • The investigators will also identify individuals in a lipid core database with HDL's of greater than 90mg/dl who have normal or low LDL and triglyceride levels and determine if they have normal or low LDL and triglyceride levels and determine if they have family members (parents or siblings) who also have high HDL cholesterol.

Exclusion Criteria:

  • Individuals who are not a member of the study family and individuals with high HDL's and elevated LDL and/or triglycerides.
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Please refer to this study by its identifier: NCT00525109

United States, Tennessee
Vanderbilt University Medical Center
Nashville, Tennessee, United States, 37232
Sponsors and Collaborators
Vanderbilt University Medical Center
Principal Investigator: Douglas E Vaughan, MD Vanderbilt University Medical Center
  More Information

Responsible Party: James Muldowney, Assistant Professor of Medicine, Vanderbilt University Identifier: NCT00525109     History of Changes
Other Study ID Numbers: 010535
Study First Received: September 4, 2007
Last Updated: March 16, 2017

Keywords provided by James Muldowney, Vanderbilt University:
Gene array

Additional relevant MeSH terms:
Lipid Metabolism Disorders
Metabolic Diseases processed this record on June 26, 2017