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Personal Genomics for Preventive Cardiology

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.
 
ClinicalTrials.gov Identifier: NCT01406808
Recruitment Status : Completed
First Posted : August 1, 2011
Last Update Posted : October 5, 2017
Sponsor:
Information provided by (Responsible Party):
Joshua Knowles, Stanford University

Tracking Information
First Submitted Date  ICMJE July 28, 2011
First Posted Date  ICMJE August 1, 2011
Last Update Posted Date October 5, 2017
Study Start Date  ICMJE August 2011
Actual Primary Completion Date October 2016   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: July 29, 2011)
change in LDL cholesterol [ Time Frame: 6 mo ]
Original Primary Outcome Measures  ICMJE Same as current
Change History
Current Secondary Outcome Measures  ICMJE
 (submitted: July 29, 2011)
  • change in weight [ Time Frame: 6 mo ]
  • change in exercise [ Time Frame: 6 mo ]
  • medication compliance [ Time Frame: 6 mo ]
  • non-HDL cholesterol [ Time Frame: 6 mo ]
  • blood pressure [ Time Frame: 6 mo ]
Original Secondary Outcome Measures  ICMJE Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title  ICMJE Personal Genomics for Preventive Cardiology
Official Title  ICMJE A Pilot Randomized Trial of Personal Genomics for Preventive Cardiology
Brief Summary The purpose of this study is to see if providing information to a person on their inherited (genetic) risk of cardiovascular disease (CVD) helps to motivate that person to change their diet, lifestyle or medication regimen to alter their risk.
Detailed Description Genome wide association studies (GWAS) have identified over 1000 disease associated SNPs, including many related to cardiovascular disease (CVD). Associations have been found for most traditional risk factors including lipids, blood pressure /hypertension, weight/body mass index, smoking behavior, and diabetes. Importantly, GWAS have also identified susceptibility variants for coronary heart disease/ myocardial infarction (CHD/MI), many of which are independent of traditional risk factors and thus cannot currently be assessed by surrogate measures. The first, and so far the strongest, of these signals was found in the 9p21.3 locus and are associated with a 20-40% increase in the relative risk of coronary heart disease among Caucasian and East Asian populations. Like most of the associations identified to date, the function of the non-coding 9p21.3 chromosomal region remains unclear. These markers predict disease and can modesty improve reclassification indices. For instance, in a very recent example, 13 SNPs previously identified in GWAS as associated with CHD/MI were incorporated into a multilocus model to estimate the association of a genetic risk score with incident CHD/MI in several large prospective studies. Even after adjusting for family history and traditional risk factors, individuals in the top quintile were at 1.66 times increased risk compared with those at the bottom quintile 36. There was a significant improvement in reclassification of intermediate risk patients. The use of these markers has not yet been shown to outperform models including traditional risk factors and family history. This shortcoming is probably because the vast majority of heritable risk remains undiscovered. The basis for this heritability gap remains unclear but is the focus of intense investigation. Despite the heritability gap, it is still possible that the use of known genetic risk factors may improve patient outcomes. For instance, genetic testing can improve patient adherence and risk factor reduction for Mendelian forms of coronary disease like familial hypercholesterolemia (FH). However, for "garden variety" coronary disease, there has never been a clinical trial that indicates that using genetic markers improves outcomes. There are strong signals from the NIH, the US Preventive Services Task Force and other independent prevention centers that genetic screening will be highly scrutinized until such trials exist. Currently, both the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group and the ACC/AHA Taskforce on Practice Guidelines recommend against genetic testing for coronary disease 39,40 because there is no clinical trial data supporting their use. Despite these recommendations, and lack of efficacy data, there are huge financial pressures to increase genetic testing by "direct-to-consumer" companies. In this context, there is a perfect opportunity to develop well-designed clinical trials to test these variants.
Study Type  ICMJE Interventional
Study Phase  ICMJE Not Applicable
Study Design  ICMJE Allocation: Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Prevention
Condition  ICMJE Coronary Artery Disease
Intervention  ICMJE Behavioral: genetic risk score for coronary risk factors
genetic risk score based on coronary artery disease genetic risk variants (SNPs)
Study Arms  ICMJE
  • standard of care plus genetic information
    Intervention: Behavioral: genetic risk score for coronary risk factors
  • No Intervention: usual standard of care without genetic information
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Completed
Actual Enrollment  ICMJE
 (submitted: July 29, 2011)
100
Original Estimated Enrollment  ICMJE Same as current
Actual Study Completion Date  ICMJE August 2017
Actual Primary Completion Date October 2016   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

Inclusion Criteria:

  • Adults age > 18
  • Patient seeking cardiovascular risk evaluation
  • At intermediate (6-20%) or high risk (> 20%) over 10 years of CAD as defined by Framingham 10 year risk score AND/OR at > 20% risk of CAD over 30 years using the Framingham 30 year risk calculator
  • The genetic risk factors have been evaluated predominantly in white/European subjects. However, there is considerable overlap in the genetic architecture of South Asians and Hispanic/Latino populations. Therefore, we will limit our initial studies to these three race/ethnicity groups.

Exclusion Criteria:

  • History of myocardial infarction, angina, stroke, peripheral arterial disease, PCI, or CABG
  • Already on lipid lowering therapy
  • Anticipated survival <1 year (e.g. metastatic cancer)
  • Serious conditions that would limit ability to adhere to recommendations (inability to take statins, exercise)
  • Already had genetic testing
  • Concurrent enrollment in another clinical trial
  • Pregnant or breastfeeding
Sex/Gender  ICMJE
Sexes Eligible for Study: All
Ages  ICMJE 18 Years and older   (Adult, Older Adult)
Accepts Healthy Volunteers  ICMJE Yes
Contacts  ICMJE Contact information is only displayed when the study is recruiting subjects
Listed Location Countries  ICMJE United States
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT01406808
Other Study ID Numbers  ICMJE SU-07272011-8149
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement  ICMJE Not Provided
Responsible Party Joshua Knowles, Stanford University
Study Sponsor  ICMJE Stanford University
Collaborators  ICMJE Not Provided
Investigators  ICMJE
Principal Investigator: Joshua W. Knowles, MD-PhD Stanford University
Principal Investigator: Themistocles L Assimes, MD-PhD Stanford University
PRS Account Stanford University
Verification Date October 2017

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP