Personal Genomics for Preventive Cardiology
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First Received Date ICMJE | July 28, 2011 | ||||||||
Last Updated Date | September 26, 2011 | ||||||||
Start Date ICMJE | August 2011 | ||||||||
Estimated Primary Completion Date | August 2012 (final data collection date for primary outcome measure) | ||||||||
Current Primary Outcome Measures ICMJE |
change in LDL cholesterol [ Time Frame: 6 mo ] [ Designated as safety issue: No ] | ||||||||
Original Primary Outcome Measures ICMJE | Same as current | ||||||||
Change History | Complete list of historical versions of study NCT01406808 on ClinicalTrials.gov Archive Site | ||||||||
Current Secondary Outcome Measures ICMJE |
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Original Secondary Outcome Measures ICMJE | Same as current | ||||||||
Current Other Outcome Measures ICMJE | |||||||||
Original Other Outcome Measures ICMJE | |||||||||
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. |
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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. |
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Study Type ICMJE | Interventional | ||||||||
Study Phase | |||||||||
Study Design ICMJE | Allocation: Randomized Intervention Model: Single Group Assignment Masking: Open Label Primary Purpose: Prevention |
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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) |
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Study Arm (s) |
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Publications * | Knowles JW, Assimes TL, Kiernan M, Pavlovic A, Goldstein BA, Yank V, McConnell MV, Absher D, Bustamante C, Ashley EA, Ioannidis JP. Randomized trial of personal genomics for preventive cardiology: design and challenges. Circ Cardiovasc Genet. 2012 Jun;5(3):368-76. | ||||||||
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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Recruitment Information | |||||||||
Recruitment Status ICMJE | Recruiting | ||||||||
Estimated Enrollment ICMJE | 100 | ||||||||
Estimated Completion Date | December 2012 | ||||||||
Estimated Primary Completion Date | August 2012 (final data collection date for primary outcome measure) | ||||||||
Eligibility Criteria ICMJE | Inclusion Criteria:
Exclusion Criteria:
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Gender | Both | ||||||||
Ages | 18 Years and older | ||||||||
Accepts Healthy Volunteers | Yes | ||||||||
Contacts ICMJE |
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Location Countries ICMJE | United States | ||||||||
Administrative Information | |||||||||
NCT Number ICMJE | NCT01406808 | ||||||||
Other Study ID Numbers ICMJE | SU-07272011-8149 | ||||||||
Has Data Monitoring Committee | No | ||||||||
Responsible Party | Stanford University | ||||||||
Study Sponsor ICMJE | Stanford University | ||||||||
Collaborators ICMJE | |||||||||
Investigators ICMJE |
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Information Provided By | Stanford University | ||||||||
Verification Date | September 2011 | ||||||||
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP |