Clinical trial NCT05175651: Prospective Electronic Polygenic Risk Study - Second Phase
Official title: Prospective Electronic Polygenic Risk Study - Second Phase
Study type: INTERVENTIONAL
Overall status: NOT_YET_RECRUITING
Phase: NA
Conditions: Coronary Artery Disease
Glaucoma
Lead sponsor: Scripps Translational Science Institute
Sponsor class: OTHER
Collaborators: name: Illumina, Inc.
name: Optum, Inc.
name: Quest Diagnostics-Nichols Insitute
First posted: 2022-01-04
Enrollment: 10000
Sex: ALL
Minimum age (years): 45
Maximum age (years): 65
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: PREVENTION

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

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 or glaucoma genetic risk, as measured and conveyed by a PRS, influences patient and physician decision-making as well as clinical outcomes during short-term (6-month / 2-year) and long-term (3-year / 5-year) follow-up. A CAD and glaucoma PRS will be calculated for all study participants, with participants randomized to receiving either their CAD or glaucoma PRS. This study design allows for causal attribution of preventive actions and clinical outcomes to the receipt and degree of genetic risk. The design is informed by a pilot (MyGeneRank) and phase 1 (PEPRS first phase) study, with the key extensions being the addition of randomization and increasing the study population size to power causal association with long-term, hard clinical outcomes.

Eligibility criteria: 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)
* Prior diagnosis or treatment of glaucoma
* 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

Primary outcomes:
measure: Composite MACE in intermediate to high clinical risk population
timeFrame: 5 years post enrollment
Secondary outcomes:
measure: Composite MACE in high PRS
timeFrame: 5 years post enrollment
measure: MACE Components
timeFrame: 5 years post enrollment
measure: Treated Glaucoma
timeFrame: 5 years post enrollment
measure: LDL-C lowering
timeFrame: 5 years post enrollment
measure: Statin or other lipid lowering therapy initiation or intensification
timeFrame: 1 year post enrollment
measure: Statin or other lipid lowering therapy persistence
timeFrame: 2 years post enrollment
measure: Statin or other lipid lowering therapy adherence
timeFrame: 2 years post enrollment
measure: Glaucoma screening
timeFrame: 2 years post enrollment
measure: Physician Utility
timeFrame: 1 year
Other outcomes:
measure: Lifestyle changes
timeFrame: 6 months post enrollment
Locations:
Study officials:
References:
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