Primary Prevention of Cardiovascular DiseasePERSONALNCT07039123
Polygenic Risk Score for Optimizing Primary Prevention in Intermediate-Risk Populations
A study testing Polygenic Risk Score for Coronary Artery Disease (PRS-CAD) and Standardized Risk Communication Tool (SCORE2) in people with Primary Prevention of Cardiovascular Disease, run by University of Bern at 2 sites in Switzerland.
Trial summary
The goal of this clinical trial is to determine whether incorporating a polygenic risk score (PRS) can optimize primary cardiovascular disease prevention in individuals with intermediate cardiovascular risk. Read more about this study
- Who is it for?
- Ages 40 to 69 years
- Conditions the study is for
- Primary Prevention of Cardiovascular Disease
- What is being tested?
- Polygenic Risk Score for Coronary Artery Disease (PRS-CAD) and Standardized Risk Communication Tool (SCORE2)
- Type of treatment
- Lifestyle or therapy programme
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 205 participants
- Where
- 2 sitesSwitzerland
- Study dates
- 8 Jul 2025to 8 Nov 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 40 to 69 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 40-69 years old
- Intermediate cardiovascular risk based on SCORE2 or SCORE2-Diabetes
- Able to give informed consent (understanding German or French or with an interpreter)
- Written Informed Consent
Who cannot join
- Patient treated under lipid-lowering therapy (defined as statin, ezetimib, bempedoïc acid, PCSK-9 inhibitors)
- History of previous cardiovascular disease: coronary artery disease (CAD), peripheral artery disease and ischemic stroke (including transitory ischemic stroke).
- Chronic kidney disease (CKD) define as an estimated glomerular filtration rate (eGFR) of less than 30 ml/min or less than 60 ml/min with albuminuria patients with diabetes and end organ damage (classified as very high risk according to ESC guidelines).
- Other participation in a clinical study related to CV risk or lifestyle interventions (e.g. diet, smoking cessation...)
- Life expectancy of less than one year
Trial locations and contacts
2 sites in 1 country.
Switzerland2 sites
University of Bern, Institute of Primary Health Care (BIHAM)
Bern, 3012
Hôpital Fribourgeois (HFR)
Fribourg
About this study
Official title: Polygenic Risk Score to Optimize Primary Prevention in Intermediate Risk Population (PERSONAL)
The goal of this clinical trial is to determine whether incorporating a polygenic risk score (PRS) can optimize primary cardiovascular disease prevention in individuals with intermediate cardiovascular risk.
The main questions it aims to answer are:
Read more
- Can a polygenic risk score improve risk stratification in intermediate-risk individuals?
- Does disclosing polygenic risk information to patients and physicians lead to better preventive interventions (e.g., statin use, lifestyle changes)? Researchers will compare outcomes in participants with PRS disclosure versus standard risk assessment to see if PRS-guided prevention leads to improved cardiovascular risk management.
Participants will:
- Undergo baseline cardiovascular risk assessment
- Provide a blood sample for PRS calculation
- Complete follow-up visits for lifestyle counseling, medication review, and risk reassessment
Read the detailed description
Coronary artery disease (CAD) remains the leading cause of mortality worldwide. While current cardiovascular disease (CVD) prevention guidelines rely on clinical risk scores such as SCORE2, these tools may underestimate or overestimate risk in individuals with intermediate clinical risk. Polygenic risk scores (PRS) aggregate the effect of multiple common genetic variants and may provide additional predictive value when combined with traditional risk assessment.
This randomized controlled trial evaluates whether incorporating a PRS for CAD (PRS-CAD) into clinical decision-making improves cardiovascular risk stratification and leads to better primary prevention in individuals with intermediate estimated 10-year cardiovascular risk.
Participants aged 40-69 years with intermediate CVD risk based on the SCORE2 algorithm will be randomized 1:1 into two groups. In the intervention arm, the PRS-CAD will be calculated using a validated genome-wide algorithm and integrated with the SCORE2 risk to generate a combined PRS-CAD-SCORE2 estimate. Risk will be communicated to participants and their healthcare providers using a standardized, structured communication tool developed by the study team. Participants with elevated combined risk will be referred to lipid clinics for further evaluation. In the control arm, participants will receive standard SCORE2-based risk communication, without inclusion of genetic information.
All participants will receive written lifestyle guidance . Physicians will receive the results in a structured format.
The primary endpoint is the change in SCORE2 from baseline to 15 months. Secondary endpoints include changes in blood pressure, lipid levels, glucose, HbA1c, hs-CRP, BMI, weight, adherence to the Mediterranean diet (Predimed score), physical activity (IPAQ), tobacco abstinence, medication adherence (MARS), and psychological measures (DASS-21, motivation for change, satisfaction with risk communication). Prescription rates of statins and other preventive therapies, new diagnoses (e.g., diabetes), and new cardiovascular events will also be recorded. Epigenomic analyses will be conducted to explore interactions between genetic risk, lifestyle, and DNA methylation.
All outcomes will be assessed at 15 months with blinded outcome assessment. The study aims to inform the clinical utility of integrating PRS into preventive cardiovascular care and support the move toward personalized medicine in primary prevention.
- Being tested
- Polygenic Risk Score for Coronary Artery Disease (PRS-CAD), Standardized Risk Communication Tool (SCORE2)
- Keywords
- Polygenic risk score, Cardiovascular risk, Genomic medicine, Cardiovascular disease, Intermediate cardiovascular risk, Primary prevention, Genetic risk stratification
- Medical subject headings
- Genetic Risk Score, Cardiovascular Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Polygenic Risk Score for Coronary Artery Disease (PRS-CAD)Diagnostic test
A polygenic risk score will be calculated based on genome-wide genotyping and combined with SCORE2 clinical risk factors to estimate personalized cardiovascular risk. The combined risk (PRS-CAD-SCORE2) will be communicated to participants and their healthcare providers using a standardized communication tool. Participants with elevated risk will be referred to a lipid clinic.
Standardized Risk Communication Tool (SCORE2)Behavioural
Participants will receive risk communication based solely on clinical risk factors using the SCORE2 algorithm. The same structured communication tool will be used (without genetic data), along with general lifestyle guidance.
| Study group | Role | What they receive |
|---|---|---|
| Polygenic Risk Score Combined with SCORE2 | Experimental | Participants in this arm will receive cardiovascular risk assessment using a combination of traditional clinical risk factors (SCORE2 algorithm) and a polygenic risk score for coronary artery disease (PRS-CAD). The combined risk (PRS-CAD-SCORE2) will be communicated using a structured communication tool developed by the study team. Participants and their healthcare providers will receive the results, and those with elevated risk will be referred to a lipid consultation. Lifestyle guidance and educational materials will also be provided. Receives: Diagnostic Test: Polygenic Risk Score for Coronary Artery Disease (PRS-CAD); Behavioral: Standardized Risk Communication Tool (SCORE2) |
| SCORE2-Based Risk Assessment | Active comparator | Participants in this arm will receive standard cardiovascular risk assessment using the SCORE2 algorithm only. Risk results will be communicated using the same structured communication tool, without inclusion of genetic information. No polygenic risk score will be calculated or disclosed. Participants and their healthcare providers will receive the standard risk results and general lifestyle recommendations. Receives: Behavioral: Standardized Risk Communication Tool (SCORE2) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in SCORE2 between baseline and 18 months
Mean change in SCORE2 cardiovascular risk score from baseline to 18-month follow-up, comparing the intervention (PRS-CAD + SCORE2) and control (SCORE2 only) arms.
Measured: 18 months
Secondary outcomes (25)
Change in systolic blood pressure
Measured using validated automated oscillometric device at rest
Measured: Baseline to 18 months
Change in diastolic blood pressure
Measured using validated automated oscillometric device at rest
Measured: Baseline to 18 months
Change in total cholesterol
Measured via fasting venous blood sample
Measured: Baseline to 18 months
Change in HDL cholesterol (HDL-C)
Measured via fasting venous blood sample
Measured: Baseline to 18 months
Change in LDL cholesterol (LDL-C)
Measured via fasting venous blood sample
Measured: Baseline to 18 months
Change in triglyceride levels
Measured via fasting venous blood sample
Measured: Baseline to 18 months
Change in fasting glucose
Measured via fasting venous blood sample
Measured: Baseline to 18 months
Change in HbA1c
Measured via venous blood sample
Measured: Baseline to 18 months
Change in high-sensitivity C-reactive protein (hs-CRP)
Measured via fasting venous blood sample
Measured: Baseline to 18 months
Change in DNA methylation patterns
Assessment of genome-wide DNA methylation changes from peripheral blood samples. DNA methylation will be analyzed in relation to adherence to the Mediterranean diet (measured via Predimed 14-item questionnaire) and its interaction with polygenic risk scores for coronary artery disease.
Measured: Baseline to 18 months
Tobacco abstinence status
Self-reported smoking status assessed at follow-up
Measured: Baseline to 18 months
Change in body mass index (BMI)
Calculated using measured weight and height (kg/m²)
Measured: Baseline to 18 months
Change in body weight
Measured in kilograms using calibrated scale
Measured: Baseline to 18 months
Change in dietary adherence
Measured by the Predimed 14-item questionnaire (score range: 0-14; higher scores indicate greater adherence to the Mediterranean diet)
Measured: Baseline to 18 months
Change in physical activity level
Assessed using the International Physical Activity Questionnaire (IPAQ, long form; score expressed in MET-minutes/week; higher values indicate greater physical activity).
Measured: Baseline to 18 months
Change in medication adherence
Assessed using the Medication Adherence Report Scale (MARS, 5-item version) score range: 5-25; higher scores indicate better adherence.
Measured: Baseline to 18 months
Change in motivation for lifestyle change
Measured using the 32-item Readiness for Change Questionnaire; score range depends on subscale (e.g., Precontemplation, Contemplation, Action); higher scores indicate greater readiness for behavior change.
Measured: Baseline to 18 months
Change in psychological well-being
Assessed using the Depression Anxiety Stress Scale (DASS-21); each subscale score ranges from 0 to 42, with higher scores indicating greater severity of symptoms.
Measured: Baseline to 18 months
Participant satisfaction with the intervention
Measured via structured self-reported survey on a 5-point Likert scale (1 = not satisfied at all, 5 = very satisfied).
Measured: Baseline to 18 months
Number of visits to healthcare providers (HCPs)
Self-reported and verified via medical records when available
Measured: Baseline to 18 months
Initiation of new statin therapy
Number of participants with newly prescribed statins during follow-up period
Measured: Baseline to 18 months
Initiation of new antihypertensive therapy
Number of participants with newly prescribed antihypertensive medications during follow-up period
Measured: Baseline to 18 months
Initiation of new antidiabetic therapy
Number of participants with newly prescribed antidiabetic medications (oral or injectable) during follow-up period
Measured: Baseline to 18 months
Incidence of new cardiovascular events
Number of participants with new cardiovascular events defined as new diagnosis of myocardial infarction, stroke, or other major adverse cardiovascular event (MACE); verified through clinical records
Measured: Baseline to 18 months
Incidence of newly diagnosed diabetes mellitus
Number of participants with newly diagnosed type 2 diabetes confirmed by GP or medical record during follow-up
Measured: Baseline to 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Jun 2025
- Study start8 Jul 2025
- Primary completion8 Nov 2027 (estimated)
- Study completion8 Nov 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (47)Papers the sponsor has linked to this study.
- Other trials for Primary Prevention of Cardiovascular DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Prevention
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Triple blind
- Who is masked
- Participant, Care provider, Outcomes assessor
- Enrolment
- 205 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Bern
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Nicolas Rodondi, MD, Study chair, University of Bern
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07039123
- Sponsor's protocol ID
- PERSONAL-2025-00601
- Acronym
- PERSONAL
- Status last verified
- Jul 2025
- First submitted
- 18 Jun 2025
- Last updated
- 30 Jun 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: IPD will only be shared after official request
Publications
De Montmollin M, Betrisey S, Feller M, Moutzouri E, Blum MR, Amsler J, Papazoglou DD, Moller B, Rodondi N. Achilles tendon ultrasonography in the clinical screening of familial hypercholesterolaemia - a cross-sectional analysis. Swiss Med Wkly. 2023 Nov 20;153:40127. doi: 10.57187/smw.2023.40127.
PubMed 37984334Ripatti P, Ramo JT, Mars NJ, Fu Y, Lin J, Soderlund S, Benner C, Surakka I, Kiiskinen T, Havulinna AS, Palta P, Freimer NB, Widen E, Salomaa V, Tukiainen T, Pirinen M, Palotie A, Taskinen MR, Ripatti S; FinnGendagger. Polygenic Hyperlipidemias and Coronary Artery Disease Risk. Circ Genom Precis Med. 2020 Apr;13(2):e002725. doi: 10.1161/CIRCGEN.119.002725. Epub 2020 Mar 10.
PubMed 32154731Jeemon P, Harikrishnan S, Sanjay G, Sivasubramonian S, Lekha TR, Padmanabhan S, Tandon N, Prabhakaran D. A PROgramme of Lifestyle Intervention in Families for Cardiovascular risk reduction (PROLIFIC Study): design and rationale of a family based randomized controlled trial in individuals with family history of premature coronary heart disease. BMC Public Health. 2017 Jan 5;17(1):10. doi: 10.1186/s12889-016-3928-6.
PubMed 28056897Lindbohm JV, Sipila PN, Mars N, Knuppel A, Pentti J, Nyberg ST, Frank P, Ahmadi-Abhari S, Brunner EJ, Shipley MJ, Singh-Manoux A, Tabak AG, Batty GD, Kivimaki M. Association between change in cardiovascular risk scores and future cardiovascular disease: analyses of data from the Whitehall II longitudinal, prospective cohort study. Lancet Digit Health. 2021 Jul;3(7):e434-e444. doi: 10.1016/S2589-7500(21)00079-0.
PubMed 34167764Willis A, Davies M, Yates T, Khunti K. Primary prevention of cardiovascular disease using validated risk scores: a systematic review. J R Soc Med. 2012 Aug;105(8):348-56. doi: 10.1258/jrsm.2012.110193.
PubMed 22907552Schwalm JD, McCready T, Lopez-Jaramillo P, Yusoff K, Attaran A, Lamelas P, Camacho PA, Majid F, Bangdiwala SI, Thabane L, Islam S, McKee M, Yusuf S. A community-based comprehensive intervention to reduce cardiovascular risk in hypertension (HOPE 4): a cluster-randomised controlled trial. Lancet. 2019 Oct 5;394(10205):1231-1242. doi: 10.1016/S0140-6736(19)31949-X. Epub 2019 Sep 2.
PubMed 31488369Daumit GL, Dalcin AT, Dickerson FB, Miller ER, Evins AE, Cather C, Jerome GJ, Young DR, Charleston JB, Gennusa JV 3rd, Goldsholl S, Cook C, Heller A, McGinty EE, Crum RM, Appel LJ, Wang NY. Effect of a Comprehensive Cardiovascular Risk Reduction Intervention in Persons With Serious Mental Illness: A Randomized Clinical Trial. JAMA Netw Open. 2020 Jun 1;3(6):e207247. doi: 10.1001/jamanetworkopen.2020.7247.
PubMed 32530472SCORE2 working group and ESC Cardiovascular risk collaboration. SCORE2 risk prediction algorithms: new models to estimate 10-year risk of cardiovascular disease in Europe. Eur Heart J. 2021 Jul 1;42(25):2439-2454. doi: 10.1093/eurheartj/ehab309.
PubMed 34120177Mohananey A, Tseng AS, Julakanti RR, Gonzalez-Bonilla HM, Kruisselbrink T, Prochnow C, Rodman S, Lin G, Redfield MM, Rosenbaum AN, Pereira NL. An intervention strategy to improve genetic testing for dilated cardiomyopathy in a heart failure clinic. Genet Med. 2023 Mar;25(3):100341. doi: 10.1016/j.gim.2022.11.009. Epub 2022 Dec 6.
PubMed 36472615Shefer G, Silarova B, Usher-Smith J, Griffin S. The response to receiving phenotypic and genetic coronary heart disease risk scores and lifestyle advice - a qualitative study. BMC Public Health. 2016 Dec 3;16(1):1221. doi: 10.1186/s12889-016-3867-2.
PubMed 27914472Brockman DG, Petronio L, Dron JS, Kwon BC, Vosburg T, Nip L, Tang A, O'Reilly M, Lennon N, Wong B, Ng K, Huang KH, Fahed AC, Khera AV. Design and user experience testing of a polygenic score report: a qualitative study of prospective users. BMC Med Genomics. 2021 Oct 1;14(1):238. doi: 10.1186/s12920-021-01056-0.
PubMed 34598685Viigimaa M, Jurisson M, Pisarev H, Kalda R, Alavere H, Irs A, Saar A, Fischer K, Lall K, Kruuv-Kao K, Mars N, Widen E, Ripatti S, Metspalu A. Effectiveness and feasibility of cardiovascular disease personalized prevention on high polygenic risk score subjects: a randomized controlled pilot study. Eur Heart J Open. 2022 Dec 15;2(6):oeac079. doi: 10.1093/ehjopen/oeac079. eCollection 2022 Nov.
PubMed 36600884Knowles JW, Zarafshar S, Pavlovic A, Goldstein BA, Tsai S, Li J, McConnell MV, Absher D, Ashley EA, Kiernan M, Ioannidis JPA, Assimes TL. Impact of a Genetic Risk Score for Coronary Artery Disease on Reducing Cardiovascular Risk: A Pilot Randomized Controlled Study. Front Cardiovasc Med. 2017 Aug 14;4:53. doi: 10.3389/fcvm.2017.00053. eCollection 2017.
PubMed 28856136Silarova B, Sharp S, Usher-Smith JA, Lucas J, Payne RA, Shefer G, Moore C, Girling C, Lawrence K, Tolkien Z, Walker M, Butterworth A, Di Angelantonio E, Danesh J, Griffin SJ. Effect of communicating phenotypic and genetic risk of coronary heart disease alongside web-based lifestyle advice: the INFORM Randomised Controlled Trial. Heart. 2019 Jul;105(13):982-989. doi: 10.1136/heartjnl-2018-314211. Epub 2019 Mar 30.
PubMed 30928969Kumuthini J, Zick B, Balasopoulou A, Chalikiopoulou C, Dandara C, El-Kamah G, Findley L, Katsila T, Li R, Maceda EB, Monye H, Rada G, Thong MK, Wanigasekera T, Kennel H, Marimuthu V; G2MC Evidence investigators; Williams MS, Al-Mulla F, Abramowicz M. The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review. Hum Genet. 2022 Nov;141(11):1697-1704. doi: 10.1007/s00439-022-02452-x. Epub 2022 Apr 30.
PubMed 35488921
Study at a glance
From the registry record, last updated by the sponsor on 30 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Polygenic Risk Score to Optimize Primary Prevention in Intermediate Risk Population (PERSONAL)
- ClinicalTrials.gov ID
- NCT07039123
- Acronym / sponsor ID
- PERSONAL / PERSONAL-2025-00601
- Keywords
- Polygenic risk score, Cardiovascular risk, Genomic medicine, Cardiovascular disease, Intermediate cardiovascular risk, Primary prevention, Genetic risk stratification
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 205 participants (actual)
- Lead sponsor
- University of BernUniversity, hospital or other
- Study start
- 8 Jul 2025 (actual)
- Primary completion
- 8 Nov 2027 (estimated)
- Study completion
- 8 Nov 2027 (estimated)
- First posted
- 26 Jun 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The goal of this clinical trial is to determine whether incorporating a polygenic risk score (PRS) can optimize primary cardiovascular disease prevention in individuals with intermediate cardiovascular risk.
The main questions it aims to answer are:
- Can a polygenic risk score improve risk stratification in intermediate-risk individuals?
- Does disclosing polygenic risk information to patients and physicians lead to better preventive interventions (e.g., statin use, lifestyle changes)? Researchers will compare outcomes in participants with PRS disclosure versus standard risk assessment to see if PRS-guided prevention leads to improved cardiovascular risk management.
Participants will:
- Undergo baseline cardiovascular risk assessment
- Provide a blood sample for PRS calculation
- Complete follow-up visits for lifestyle counseling, medication review, and risk reassessment
Detailed description
Coronary artery disease (CAD) remains the leading cause of mortality worldwide. While current cardiovascular disease (CVD) prevention guidelines rely on clinical risk scores such as SCORE2, these tools may underestimate or overestimate risk in individuals with intermediate clinical risk. Polygenic risk scores (PRS) aggregate the effect of multiple common genetic variants and may provide additional predictive value when combined with traditional risk assessment.
This randomized controlled trial evaluates whether incorporating a PRS for CAD (PRS-CAD) into clinical decision-making improves cardiovascular risk stratification and leads to better primary prevention in individuals with intermediate estimated 10-year cardiovascular risk.
Participants aged 40-69 years with intermediate CVD risk based on the SCORE2 algorithm will be randomized 1:1 into two groups. In the intervention arm, the PRS-CAD will be calculated using a validated genome-wide algorithm and integrated with the SCORE2 risk to generate a combined PRS-CAD-SCORE2 estimate. Risk will be communicated to participants and their healthcare providers using a standardized, structured communication tool developed by the study team. Participants with elevated combined risk will be referred to lipid clinics for further evaluation. In the control arm, participants will receive standard SCORE2-based risk communication, without inclusion of genetic information.
All participants will receive written lifestyle guidance . Physicians will receive the results in a structured format.
The primary endpoint is the change in SCORE2 from baseline to 15 months. Secondary endpoints include changes in blood pressure, lipid levels, glucose, HbA1c, hs-CRP, BMI, weight, adherence to the Mediterranean diet (Predimed score), physical activity (IPAQ), tobacco abstinence, medication adherence (MARS), and psychological measures (DASS-21, motivation for change, satisfaction with risk communication). Prescription rates of statins and other preventive therapies, new diagnoses (e.g., diabetes), and new cardiovascular events will also be recorded. Epigenomic analyses will be conducted to explore interactions between genetic risk, lifestyle, and DNA methylation.
All outcomes will be assessed at 15 months with blinded outcome assessment. The study aims to inform the clinical utility of integrating PRS into preventive cardiovascular care and support the move toward personalized medicine in primary prevention.
Study design
- Primary purpose
- Prevention
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Triple blind (participant, care provider, outcomes assessor)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Polygenic Risk Score Combined with SCORE2 | Experimental | Diagnostic Test: Polygenic Risk Score for Coronary Artery Disease (PRS-CAD), Behavioral: Standardized Risk Communication Tool (SCORE2)Participants in this arm will receive cardiovascular risk assessment using a combination of traditional clinical risk factors (SCORE2 algorithm) and a polygenic risk score for coronary artery disease (PRS-CAD). The combined risk (PRS-CAD-SCORE2) will be communicated using a structured communication tool developed by the study team. Participants and their healthcare providers will receive the results, and those with elevated risk will be referred to a lipid consultation. Lifestyle guidance and educational materials will also be provided. |
| SCORE2-Based Risk Assessment | Active comparator | Behavioral: Standardized Risk Communication Tool (SCORE2)Participants in this arm will receive standard cardiovascular risk assessment using the SCORE2 algorithm only. Risk results will be communicated using the same structured communication tool, without inclusion of genetic information. No polygenic risk score will be calculated or disclosed. Participants and their healthcare providers will receive the standard risk results and general lifestyle recommendations. |
Who may qualify
- Ages
- 40 to 69 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (4 listed)
- 40-69 years old
- Intermediate cardiovascular risk based on SCORE2 or SCORE2-Diabetes
- Able to give informed consent (understanding German or French or with an interpreter)
- Written Informed Consent
Key exclusion criteria (5 listed)
- Patient treated under lipid-lowering therapy (defined as statin, ezetimib, bempedoïc acid, PCSK-9 inhibitors)
- History of previous cardiovascular disease: coronary artery disease (CAD), peripheral artery disease and ischemic stroke (including transitory ischemic stroke).
- Chronic kidney disease (CKD) define as an estimated glomerular filtration rate (eGFR) of less than 30 ml/min or less than 60 ml/min with albuminuria patients with diabetes and end organ damage (classified as very high risk according to ESC guidelines).
- Other participation in a clinical study related to CV risk or lifestyle interventions (e.g. diet, smoking cessation...)
- Life expectancy of less than one year
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Polygenic Risk Score for Coronary Artery Disease (PRS-CAD)A polygenic risk score will be calculated based on genome-wide genotyping and combined with SCORE2 clinical risk factors to estimate personalized cardiovascular risk. The combined risk (PRS-CAD-SCORE2) will be communicated to participants and their healthcare providers using a standardized communication tool. Participants with elevated risk will be referred to a lipid clinic. | Diagnostic test | Polygenic Risk Score Combined with SCORE2 |
| Standardized Risk Communication Tool (SCORE2)Participants will receive risk communication based solely on clinical risk factors using the SCORE2 algorithm. The same structured communication tool will be used (without genetic data), along with general lifestyle guidance. | Behavioural | Polygenic Risk Score Combined with SCORE2, SCORE2-Based Risk Assessment |
Primary outcome
Change in SCORE2 between baseline and 18 months
Time frame: 18 months
Mean change in SCORE2 cardiovascular risk score from baseline to 18-month follow-up, comparing the intervention (PRS-CAD + SCORE2) and control (SCORE2 only) arms.
25 secondary outcomes
Change in systolic blood pressure
Time frame: Baseline to 18 months
Change in diastolic blood pressure
Time frame: Baseline to 18 months
Change in total cholesterol
Time frame: Baseline to 18 months
Change in HDL cholesterol (HDL-C)
Time frame: Baseline to 18 months
Change in LDL cholesterol (LDL-C)
Time frame: Baseline to 18 months
Change in triglyceride levels
Time frame: Baseline to 18 months
Change in fasting glucose
Time frame: Baseline to 18 months
Change in HbA1c
Time frame: Baseline to 18 months
Change in high-sensitivity C-reactive protein (hs-CRP)
Time frame: Baseline to 18 months
Change in DNA methylation patterns
Time frame: Baseline to 18 months
Tobacco abstinence status
Time frame: Baseline to 18 months
Change in body mass index (BMI)
Time frame: Baseline to 18 months
Change in body weight
Time frame: Baseline to 18 months
Change in dietary adherence
Time frame: Baseline to 18 months
Change in physical activity level
Time frame: Baseline to 18 months
Change in medication adherence
Time frame: Baseline to 18 months
Change in motivation for lifestyle change
Time frame: Baseline to 18 months
Change in psychological well-being
Time frame: Baseline to 18 months
Participant satisfaction with the intervention
Time frame: Baseline to 18 months
Number of visits to healthcare providers (HCPs)
Time frame: Baseline to 18 months
Initiation of new statin therapy
Time frame: Baseline to 18 months
Initiation of new antihypertensive therapy
Time frame: Baseline to 18 months
Initiation of new antidiabetic therapy
Time frame: Baseline to 18 months
Incidence of new cardiovascular events
Time frame: Baseline to 18 months
Incidence of newly diagnosed diabetes mellitus
Time frame: Baseline to 18 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Jun 2026.
- Background: PubMed 37984334De Montmollin M, Betrisey S, Feller M, Moutzouri E, Blum MR, Amsler J, Papazoglou DD, Moller B, Rodondi N. Achilles tendon ultrasonography in the clinical screening of familial hypercholesterolaemia - a cross-sectional analysis. Swiss Med Wkly. 2023 Nov 20;153:40127. doi: 10.57187/smw.2023.40127.
- Background: PubMed 32154731Ripatti P, Ramo JT, Mars NJ, Fu Y, Lin J, Soderlund S, Benner C, Surakka I, Kiiskinen T, Havulinna AS, Palta P, Freimer NB, Widen E, Salomaa V, Tukiainen T, Pirinen M, Palotie A, Taskinen MR, Ripatti S; FinnGendagger. Polygenic Hyperlipidemias and Coronary Artery Disease Risk. Circ Genom Precis Med. 2020 Apr;13(2):e002725. doi: 10.1161/CIRCGEN.119.002725. Epub 2020 Mar 10.
- Background: PubMed 28056897Jeemon P, Harikrishnan S, Sanjay G, Sivasubramonian S, Lekha TR, Padmanabhan S, Tandon N, Prabhakaran D. A PROgramme of Lifestyle Intervention in Families for Cardiovascular risk reduction (PROLIFIC Study): design and rationale of a family based randomized controlled trial in individuals with family history of premature coronary heart disease. BMC Public Health. 2017 Jan 5;17(1):10. doi: 10.1186/s12889-016-3928-6.
- Background: PubMed 34167764Lindbohm JV, Sipila PN, Mars N, Knuppel A, Pentti J, Nyberg ST, Frank P, Ahmadi-Abhari S, Brunner EJ, Shipley MJ, Singh-Manoux A, Tabak AG, Batty GD, Kivimaki M. Association between change in cardiovascular risk scores and future cardiovascular disease: analyses of data from the Whitehall II longitudinal, prospective cohort study. Lancet Digit Health. 2021 Jul;3(7):e434-e444. doi: 10.1016/S2589-7500(21)00079-0.
- Background: PubMed 22907552Willis A, Davies M, Yates T, Khunti K. Primary prevention of cardiovascular disease using validated risk scores: a systematic review. J R Soc Med. 2012 Aug;105(8):348-56. doi: 10.1258/jrsm.2012.110193.
- Background: PubMed 31488369Schwalm JD, McCready T, Lopez-Jaramillo P, Yusoff K, Attaran A, Lamelas P, Camacho PA, Majid F, Bangdiwala SI, Thabane L, Islam S, McKee M, Yusuf S. A community-based comprehensive intervention to reduce cardiovascular risk in hypertension (HOPE 4): a cluster-randomised controlled trial. Lancet. 2019 Oct 5;394(10205):1231-1242. doi: 10.1016/S0140-6736(19)31949-X. Epub 2019 Sep 2.
- Background: PubMed 32530472Daumit GL, Dalcin AT, Dickerson FB, Miller ER, Evins AE, Cather C, Jerome GJ, Young DR, Charleston JB, Gennusa JV 3rd, Goldsholl S, Cook C, Heller A, McGinty EE, Crum RM, Appel LJ, Wang NY. Effect of a Comprehensive Cardiovascular Risk Reduction Intervention in Persons With Serious Mental Illness: A Randomized Clinical Trial. JAMA Netw Open. 2020 Jun 1;3(6):e207247. doi: 10.1001/jamanetworkopen.2020.7247.
- Background: PubMed 34120177SCORE2 working group and ESC Cardiovascular risk collaboration. SCORE2 risk prediction algorithms: new models to estimate 10-year risk of cardiovascular disease in Europe. Eur Heart J. 2021 Jul 1;42(25):2439-2454. doi: 10.1093/eurheartj/ehab309.
- Background: PubMed 36472615Mohananey A, Tseng AS, Julakanti RR, Gonzalez-Bonilla HM, Kruisselbrink T, Prochnow C, Rodman S, Lin G, Redfield MM, Rosenbaum AN, Pereira NL. An intervention strategy to improve genetic testing for dilated cardiomyopathy in a heart failure clinic. Genet Med. 2023 Mar;25(3):100341. doi: 10.1016/j.gim.2022.11.009. Epub 2022 Dec 6.
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- Background: PubMed 36600884Viigimaa M, Jurisson M, Pisarev H, Kalda R, Alavere H, Irs A, Saar A, Fischer K, Lall K, Kruuv-Kao K, Mars N, Widen E, Ripatti S, Metspalu A. Effectiveness and feasibility of cardiovascular disease personalized prevention on high polygenic risk score subjects: a randomized controlled pilot study. Eur Heart J Open. 2022 Dec 15;2(6):oeac079. doi: 10.1093/ehjopen/oeac079. eCollection 2022 Nov.
- UK government consultation paper outlining a national strategy to shift healthcare towards prevention, including the potential role of genomics and polygenic risk scores in personalized disease prevention.Link provided by the sponsor.
- Heart Age CalculatorLink provided by the sponsor.
- Readiness for Change QuestionnaireLink provided by the sponsor.
- Individual participant dataSharing planned: No. IPD will only be shared after official request
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Nicolas Rodondi, MD study chair
University of Bern
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Polygenic Risk Score for Coronary Artery Disease (PRS-CAD) and Standardized Risk Communication Tool (SCORE2) in people with Primary Prevention of Cardiovascular Disease, run by University of Bern at 2 sites in Switzerland.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 30 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Switzerland. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in SCORE2 between baseline and 18 months (time frame: 18 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07039123, which also lists 47 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Jun 2026.