PEPRS1: Prospective Electronic Polygenic Risk Study

Sponsor

Scripps Translational Science Institute (Other)

Overall Status

Not yet recruiting

CT.gov ID

NCT05072275

Collaborator

Illumina, Inc. (Industry), Quest Diagnostics-Nichols Insitute (Industry)

1,000

Enrollment

Anticipated Duration (Months)

Study Details

Study Description

Brief Summary

This study will investigate the role of polygenic risk scores (PRS) in preventive health.

Condition or Disease	Intervention/Treatment	Phase
Coronary Artery Disease

Detailed Description

This study will investigate the role of polygenic risk scores (PRS) in preventive health. Specifically, the purpose of this study is to determine whether knowledge of the degree of coronary artery disease (CAD) genetic risk, as measured and conveyed by a PRS, influences patient and physician decision-making during short-term (6 month) and long-term (2 year) follow-up. The initial findings of this study will be used to plan an expanded second phase study with the purpose of prospectively validating that these decision-making changes lead to improvements in clinical outcomes.

Study Design

Study Type:

Observational

Anticipated Enrollment :

1000 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Prospective Electronic Polygenic Risk Study (PEPRS) - First Phase

Anticipated Study Start Date :

Nov 1, 2021

Anticipated Primary Completion Date :

Nov 1, 2023

Anticipated Study Completion Date :

Nov 1, 2023

Arms and Interventions

Arm	Intervention/Treatment
Subjects receiving care from Scripps Health physicians in Cardiology and Primary Care A confidential data request will be submitted to screen the Scripps Health EHR system for individuals meeting study inclusion criteria and having seen a participating study physician in the past two years.

Outcome Measures

Primary Outcome Measures

Statin or other lipid lowering therapy initiation or intensification by EHR entry [6 months post enrollment]
New or intensified prescriptions for statins or other LDL lowering therapy. Binary outcome measured at 6-months post-enrollment by survey-based self-report and EHR analysis - encoded as 0 if no new or intensified prescription relative to medication status at baseline, and 1 if a new or intensified prescription is entered in the EHR relative to medication status at baseline. A prescription for statins or other LDL lowering therapy is considered new if an EHR entry for a statin, PCSK9i, or ezitimibe is present at follow-up and no equivalent EHR entry exists for up to 1-year prior to enrollment. A statin prescription is considered intensified if an active statin prescription is present in the EHR at enrollment and an active statin prescription of a higher intensity tiers (high-, moderate-, and low-intensity) as described in the 2013 ACC/AHA Guidelines on the Treatment of Blood Cholesterol is present at follow-up.

Secondary Outcome Measures

Statin or other lipid lowering therapy persistence by EHR entry [2 years post enrollment]
Statin or other lipid lowering therapy prescription renewal. Binary outcome measured at 2-years post-enrollment by EHR analysis. Statin persistence is defined as prescription renewal within 60 days of the end of the duration of an index statin prescription made after study enrollment
Statin or other lipid lowering therapy adherence by EHR entry [2 years post enrollment]
Statin or other lipid lowering therapy prescription possession. Binary outcome measured at 2-years post-enrollment by EHR entry. Statin adherence is defined as prescription coverage of no less than 80% of the days between the index statin prescription and the end of the 2-year follow-up period
Adequate LDL-C lowering - comparison of baseline and follow-up measures by lab test [6 months and 2 years post enrollment]
Adequate LDL-C lowering. Adequate LDL-C lowering is defined as 30% or more reduction from baseline study measured LDL-C
Lifestyle changes by survey [6 months post enrollment]
Adoption of Healthy Lifestyle. Binary outcomes derived from baseline and 6-months post-enrollment by survey-based self-report.
Physician Utility by survey [6 months and 1 year]
Physician confidence, perceived utility, and actions attributable to genomic testing.

Eligibility Criteria

Criteria

Ages Eligible for Study:

45 Years to 65 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

45 ≥ Age < 65
ASCVD Risk Score > 7.5% as defined by the standard pooled cohort equation
Access to and ability to use a smartphone

Exclusion Criteria:

Prior diagnosis of coronary disease as defined by prior myocardial infarction (STEMI or NSTEMI), or revascularization (stent or coronary artery bypass grafting)
Cerebrovascular disease with history of ischemic stroke, TIA, carotid endarterectomy, carotid artery stenting
Peripheral arterial disease with history of claudication, revascularization (stents or bypass)
Current and active high-intensity statin prescription (rosuvastatin 20 mg, rosuvastatin 40 mg, atorvastatin 40 mg and atorvastatin 80 mg)
Anti-PCSK9 therapy
Lipid apheresis therapy
Currently enrolled in a clinical trial for lipid lowering therapy
Known statin intolerance to 2 or more statins in the past

Contacts and Locations

Locations

No locations specified.

Sponsors and Collaborators

Scripps Translational Science Institute
Illumina, Inc.
Quest Diagnostics-Nichols Insitute

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

Responsible Party:

Ali Torkamani, Director of Genomics and Genome Informatics, Scripps Translational Science Institute

ClinicalTrials.gov Identifier:

NCT05072275

Other Study ID Numbers:

IRB-21-7762

First Posted:

Oct 8, 2021

Last Update Posted:

Oct 8, 2021

Last Verified:

Oct 1, 2021

Individual Participant Data (IPD) Sharing Statement:

Yes

Plan to Share IPD:

Yes

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Additional relevant MeSH terms:

Coronary Artery Disease

Study Results

No Results Posted as of Oct 8, 2021