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Personal Genomics for Preventive Cardiology

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01406808
First Posted: August 1, 2011
Last Update Posted: October 5, 2017
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.
Information provided by (Responsible Party):
Joshua Knowles, Stanford University
  Purpose
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.

Condition Intervention
Coronary Artery Disease Behavioral: genetic risk score for coronary risk factors

Study Type: Interventional
Study Design: Allocation: Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Prevention
Official Title: A Pilot Randomized Trial of Personal Genomics for Preventive Cardiology

Resource links provided by NLM:


Further study details as provided by Joshua Knowles, Stanford University:

Primary Outcome Measures:
  • change in LDL cholesterol [ Time Frame: 6 mo ]

Secondary Outcome Measures:
  • 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 ]

Enrollment: 100
Study Start Date: August 2011
Study Completion Date: August 2017
Primary Completion Date: October 2016 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
standard of care plus genetic information Behavioral: genetic risk score for coronary risk factors
genetic risk score based on coronary artery disease genetic risk variants (SNPs)
No Intervention: usual standard of care without genetic information

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.
  Eligibility

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria

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
  Contacts and Locations
Information from the National Library of Medicine

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): NCT01406808


Locations
United States, California
Stanford Medical Center
Stanford, California, United States, 94305
Sponsors and Collaborators
Stanford University
Investigators
Principal Investigator: Joshua W. Knowles, MD-PhD Stanford University
Principal Investigator: Themistocles L Assimes, MD-PhD Stanford University
  More Information

Publications:
Responsible Party: Joshua Knowles, Principal Investigator, Stanford University
ClinicalTrials.gov Identifier: NCT01406808     History of Changes
Other Study ID Numbers: SU-07272011-8149
First Submitted: July 28, 2011
First Posted: August 1, 2011
Last Update Posted: October 5, 2017
Last Verified: October 2017

Keywords provided by Joshua Knowles, Stanford University:
genetic
atherosclerosis
myocardial infarction
risk
preventive cardiology

Additional relevant MeSH terms:
Coronary Artery Disease
Myocardial Ischemia
Coronary Disease
Heart Diseases
Cardiovascular Diseases
Arteriosclerosis
Arterial Occlusive Diseases
Vascular Diseases