The Genetic, Protein, and Lipid Basis of Variation in Cholesterol Efflux
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|ClinicalTrials.gov Identifier: NCT04061018|
Recruitment Status : Enrolling by invitation
First Posted : August 19, 2019
Last Update Posted : August 19, 2019
|Condition or disease|
|Lipid Metabolism Disorders|
The mechanisms that underlie variation in cholesterol efflux are unknown. There is a critical need to identify factors that regulate cholesterol efflux to effectively advance the clinical development of cholesterol efflux as both a risk prediction marker and as a target of therapy. The investigator's long-term goal is to determine whether modulating cholesterol efflux prevents or reverses cardiovascular disease. The overall objective of this study is to systematically create a family pedigree and biobank repository of blood and DNA from participants from the Dallas Heart Study with extreme low or high cholesterol efflux, with the specific aims of : 1) determining the heritability of and genomic factors associated with cholesterol efflux, and 2) identifying the protein and lipid signature of extreme low and high cholesterol efflux in a sex- and ethnicity-specific manner. The investigator's central hypothesis is that a combination of genetic variation in lipid transporters as well as proteins and lipids will be most strongly correlated with variation in efflux.
DHS probands and their relatives (parents, siblings, adult children, grandparents, aunts/uncles, cousins) with extreme low or high cholesterol efflux will be recruited to establish a prospective family pedigree cohort and understand the heritability of extreme cholesterol efflux. Investigators will collect the following information from all participants: demographics, health history, lifestyle measures, and medications. Blood will be collected on-site by venipuncture and plasma, serum, and cells will be stored at -80o Celsius. All efflux measurements will be completed in the investigator's laboratory.
|Study Type :||Observational|
|Estimated Enrollment :||180 participants|
|Official Title:||The Genetic, Protein, and Lipid Basis of Variation in Cholesterol Efflux|
|Actual Study Start Date :||December 1, 2017|
|Estimated Primary Completion Date :||November 2022|
|Estimated Study Completion Date :||November 2022|
High Cholesterol Efflux
Dallas Heart Study participants who are above the sex and ethnicity specific 90th % of cholesterol efflux
Low Cholesterol Efflux
Dallas Heart Study participants who are below the sex and ethnicity specific 10th % of cholesterol efflux
- Contribution of genetic factors to variability in cholesterol efflux [ Time Frame: Anticipated completion date - November 2022 ]The expected outcome is establishing the degree of heritability of the extreme low or high cholesterol efflux phenotype, specific for sex and ethnicity and the contribution of common and rare genetic variants to cholesterol efflux. This will establish for the first time to what degree inherited verses environmental factors associate with variation in cholesterol efflux.
- Circulating metabolites and proteins linked to variation cholesterol efflux [ Time Frame: Anticipated completion date - November 2022 ]The investigators will measure circulating metabolites and proteins and identify the most relevant to the high/low cholesterol efflux phenotype, offering the potential to focus future studies targeting metabolic regulators of efflux.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04061018
|United States, Texas|
|UT Southwestern Medical Center|
|Dallas, Texas, United States, 75390|
|Principal Investigator:||Anand Rohatgi, MD||UT Southwetsern Medical Center|