Ovarian CancerPROVENCT06935344
Evaluation of Polygenic Risk Score for Epithelial OVarian cancEr Risk Prediction: the PROVE Study
An observational study of Ovarian Cancer, run by Catholic University of the Sacred Heart at 1 site in Italy.
Trial summary
The goal of this observational study is to evaluate whether polygenic risk score (PRS) assessment can help predict the onset of epithelial ovarian cancer in women aged over 18, comparing those with a histologically confirmed diagnosis of epithelial ovarian or fallopian tube cancer (cases) to women with no personal… Read more about this study
- Who is it for?
- Ages 18 years and older, women onlyHealthy volunteers can take part
- Conditions the study is for
- Ovarian Cancer
- What is being tested?
- Polygenic Risk Score, Biopsy on normal contralateral ovary and Pharmacogenetic profiles
- How many people
- 1,300 participants
- Where
- 1 siteItaly
- Study dates
- 1 Jun 2025to 1 May 2027
- Phase
- Observational
- 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 18 years and older
- Women only
- Healthy volunteers accepted
- Adult, Older adult
Study population: Cases and controls enrolment will be conducted in the ovarian cancer and rheumatology outpatient clinics of the Fondazione Policlinico Universitario Agostino Gemelli IRCCS, respectively.
Who may be able to join
- For cases: women with a first-time diagnosis of histologically confirmed epithelial ovarian or fallopian tube cancer.
- For Controls women with no concomitant or past OC diagnosis.
Who cannot join
- For both cases and controls: the presence of concurrent malignancies other from OC.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
Dipartimento Universitario di Scienze della Vita e Sanità Pubblica
Roma, Italia, 00168
Stefania Boccia, 0630154396, stefania.boccia@policlinicogemelli.it
About this study
Official title: Evaluation of Polygenic Risk Score for Epithelial OVarian cancEr Risk Prediction and Clinical Outcomes in an Italian Population: the PROVE Study
The goal of this observational study is to evaluate whether polygenic risk score (PRS) assessment can help predict the onset of epithelial ovarian cancer in women aged over 18, comparing those with a histologically confirmed diagnosis of epithelial ovarian or fallopian tube cancer (cases) to women with no personal history of ovarian cancer (controls). The main questions it aims to answer are:
- Is there an association between PRS and the presence of epithelial ovarian cancer?
- Can PRS improve the prediction of ovarian cancer risk when adjusted for other clinical factors?
Read more
Researchers will compare PRS values between cases and controls to see if higher PRS percentiles are associated with an increased risk of ovarian cancer.
Participants will:
- Complete a questionnaire on socio-economic status, lifestyle, and dietary habits.
- Undergo blood sampling, for the analysis of BRCA1-2, PALB2, RAD51C, RAD51D pathogenic variants.
- Undergo PRS analysis.
Read the detailed description
This study aims to investigate epithelial ovarian cancer (EOC) through a combined case-control and prospective cohort design, focusing on genetic, clinical, and lifestyle risk factors.
The recruitment phase will last 12 months, conducted at Fondazione Policlinico Universitario A. Gemelli IRCCS in Rome. Cases will include women with histologically confirmed EOC, while controls will be women without a history of ovarian cancer, consecutively recruited from the Rheumatology Unit. Eligible participants must be ≥18 years old and provide informed consent. Women with concurrent malignancies other than OC will be excluded.
Study Procedures Baseline Visit
After signing informed consent, participants will undergo the following assessments:
- Structured Questionnaire: Collection of socio-demographic data, medical and family history, obstetric history, lifestyle factors, comorbidities, and potential ovarian cancer risk factors.
- Blood Sampling: Blood will be collected for molecular analysis, including BRCA1/2 mutational status and Polygenic Risk Score (PRS) evaluation. PRS results will be available to participants upon request, while pathogenic BRCA results will be referred to a geneticist and managed according to clinical practice.
A fertility-sparing approach will be considered for patients of reproductive age who express a desire for future fertility and are diagnosed with FIGO stage IA or IC1 ovarian cancer of low-grade serous, grade 1-2 endometrioid, or expansile mucinous histology. Tissue samples obtained from macroscopically normal ovarian tissue in patients undergoing fertility-sparing surgery (cases) will be analyzed ex vivo using Full-Field Optical Coherence Tomography and Dynamic Cell Imaging.
For the pharmagenetics analysis, patients will be divided into different groups based on the treatment type received (i.e. PARPi, chemo, moAB) and each drug will be characterised by different groups of pharmacogenetic profiles involved in their efficacy and toxicity. The pharmacogenetic signature will also be evaluated to determine the drug-drug interaction risks in patients undergoing multiple treatments for comorbidities.
- Conditions
- Ovarian Cancer
- Being tested
- Polygenic Risk Score, Biopsy on normal contralateral ovary, Pharmacogenetic profiles, Full-Field Optical Coherence Tomography (FF-OCT), combined with Dynamic Cell Imaging (Van Gogh System) on detecting ovarian cancer lesions from tissue samples
- Keywords
- polygenic risk score, ovarian cancer, case-control
- Medical subject headings
- Ovarian Neoplasms, Genetic Risk Score
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Polygenic Risk ScoreGenetic
For the PRS analysis, SNPs for genotyping will be selected based on the latest findings from GWAS on EOC, particularly leveraging the results, as reported by Dareng et al. (doi:10.1038/s41431-021-00987-7). The PRS will be calculated as a weighted sum of risk alleles based on the selected SNPs.
Biopsy on normal contralateral ovaryDiagnostic test
During fertility-sparing surgery for early-stage ovarian cancer, tissue samples will be obtained from macroscopically normal ovarian tissue and analyzed ex vivo using Full-Field Optical Coherence Tomography (FF-OCT) combined with Dynamic Cell Imaging (DCI). The analysis will be performed with the VanGogh biopsy system (AQUYRE Biosciences).
Pharmacogenetic profilesGenetic
Identifying distinct pharmacogenetic profiles associated with different responses and toxicities from standard treatments. Patients will be divided into different groups based on the treatment type received (i.e. PARPi, chemo, moAB) and each drug will be characterised by different groups of pharmacogenetic profiles involved in their efficacy and toxicity.
The genetic fingerprints involved in the absorption, distribution, metabolism and elimination of administered drugs will be evaluated to retrospectively correlate the efficacy and the safety profile of therapies and the expected enzymatic activity of patients.
Full-Field Optical Coherence Tomography (FF-OCT), combined with Dynamic Cell Imaging (Van Gogh System) on detecting ovarian cancer lesions from tissue samplesDiagnostic test
Also called biopsy
Tissue samples retrieved during surgery in eligible patients will be analyzed ex vivo using Full-Field Optical Coherence Tomography and Dynamic Cell Imaging. Samples will be assessed without any alteration, damage, or need for fixation, and this procedure will not interfere with the standard diagnostic workflow.
| Study group | Role | What they receive |
|---|---|---|
| CASES: women with ovarian cancer | Patients with histologically proven epithelial ovarian and fallopian tube cancer (referred to as cases), consecutively enrolled in the Ovarian Carcinoma Complex Operative Unit of Policlinico Gemelli. Receives: Genetic: Polygenic Risk Score; Diagnostic Test: Biopsy on normal contralateral ovary; Genetic: Pharmacogenetic profiles; Diagnostic Test: Full-Field Optical Coherence Tomography (FF-OCT), combined with Dynamic Cell Imaging (Van Gogh System) on detecting ovarian cancer lesions from tissue samples | |
| CONTROLS: Healthy women | Women with no previous or concomitant personal history of OC (referred as controls), consecutively enrolled in the Rheumatology Complex Operative Unit of Policlinico Gemelli. Receives: Genetic: Polygenic Risk Score |
What is being measured
The primary outcome is the main question the study is designed to answer.
Odds of developing EOC by different PRS percentiles
Correlation between PRS percentiles and EOC risk
Measured: At enrollment
Secondary outcomes (3)
Correlation of PRS percentiles and covariates
Correlation between PRS percentiles and: age, familiarity with OC, stage, histotype, grading (1-2 versus 3), BRCA1-2, PALB2, RAD51C, RAD51D, FANCM status, type of surgery, residual tumor (RT) at histology, type of chemotherapy, maintenance, chemo-resistance, response to treatment, recurrences, progressions, cancer-specific deaths, Disease Free survival (DFS) hazard ratio (HR), Overall Survival (OS) HR.
Measured: At enrollment
Diagnostic accuracy of Full-Field Optical Coherence Tomography (FF-OCT), combined with Dynamic Cell Imaging (Van Gogh System)
The diagnostic accuracy will be assessed by estimating sensitivity, specificity, accuracy, and predictive values against the histopathological gold standard. These statistics will be derived from 2×2 contingency tables and presented with two-sided 95% CIs.
Measured: At enrollment
Frequency of functional genotypes in drug-metabolizing enzymes and transporters
Number of genes associated with treatment response identified
Measured: At enrollment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Apr 2025
- Study start1 Jun 2025
- Primary completionFeb 2027 (estimated)
- Study completion1 May 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Ovarian CancerStudies 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
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 1,300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Catholic University of the Sacred Heart
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Stefania Boccia, Catholic University of the Sacred Heart
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06935344
- Sponsor's protocol ID
- 7225
- Acronym
- PROVE
- Status last verified
- Feb 2026
- First submitted
- 9 Apr 2025
- Last updated
- 3 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Polygenic Risk Score for Epithelial OVarian cancEr Risk Prediction and Clinical Outcomes in an Italian Population: the PROVE Study
- ClinicalTrials.gov ID
- NCT06935344
- Acronym / sponsor ID
- PROVE / 7225
- Conditions
- Ovarian Cancer
- Keywords
- polygenic risk score, ovarian cancer, case-control
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,300 participants (estimated)
- Lead sponsor
- Catholic University of the Sacred HeartUniversity, hospital or other
- Collaborators
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
- Study start
- 1 Jun 2025 (actual)
- Primary completion
- Feb 2027 (estimated)
- Study completion
- 1 May 2027 (estimated)
- First posted
- 20 Apr 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 observational study is to evaluate whether polygenic risk score (PRS) assessment can help predict the onset of epithelial ovarian cancer in women aged over 18, comparing those with a histologically confirmed diagnosis of epithelial ovarian or fallopian tube cancer (cases) to women with no personal history of ovarian cancer (controls). The main questions it aims to answer are:
- Is there an association between PRS and the presence of epithelial ovarian cancer?
- Can PRS improve the prediction of ovarian cancer risk when adjusted for other clinical factors?
Researchers will compare PRS values between cases and controls to see if higher PRS percentiles are associated with an increased risk of ovarian cancer.
Participants will:
- Complete a questionnaire on socio-economic status, lifestyle, and dietary habits.
- Undergo blood sampling, for the analysis of BRCA1-2, PALB2, RAD51C, RAD51D pathogenic variants.
- Undergo PRS analysis.
Detailed description
This study aims to investigate epithelial ovarian cancer (EOC) through a combined case-control and prospective cohort design, focusing on genetic, clinical, and lifestyle risk factors.
The recruitment phase will last 12 months, conducted at Fondazione Policlinico Universitario A. Gemelli IRCCS in Rome. Cases will include women with histologically confirmed EOC, while controls will be women without a history of ovarian cancer, consecutively recruited from the Rheumatology Unit. Eligible participants must be ≥18 years old and provide informed consent. Women with concurrent malignancies other than OC will be excluded.
Study Procedures Baseline Visit
After signing informed consent, participants will undergo the following assessments:
- Structured Questionnaire: Collection of socio-demographic data, medical and family history, obstetric history, lifestyle factors, comorbidities, and potential ovarian cancer risk factors.
- Blood Sampling: Blood will be collected for molecular analysis, including BRCA1/2 mutational status and Polygenic Risk Score (PRS) evaluation. PRS results will be available to participants upon request, while pathogenic BRCA results will be referred to a geneticist and managed according to clinical practice.
A fertility-sparing approach will be considered for patients of reproductive age who express a desire for future fertility and are diagnosed with FIGO stage IA or IC1 ovarian cancer of low-grade serous, grade 1-2 endometrioid, or expansile mucinous histology. Tissue samples obtained from macroscopically normal ovarian tissue in patients undergoing fertility-sparing surgery (cases) will be analyzed ex vivo using Full-Field Optical Coherence Tomography and Dynamic Cell Imaging.
For the pharmagenetics analysis, patients will be divided into different groups based on the treatment type received (i.e. PARPi, chemo, moAB) and each drug will be characterised by different groups of pharmacogenetic profiles involved in their efficacy and toxicity. The pharmacogenetic signature will also be evaluated to determine the drug-drug interaction risks in patients undergoing multiple treatments for comorbidities.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| CASES: women with ovarian cancer | – | Genetic: Polygenic Risk Score, Diagnostic Test: Biopsy on normal contralateral ovary, Genetic: Pharmacogenetic profiles, Diagnostic Test: Full-Field Optical Coherence Tomography (FF-OCT), combined with Dynamic Cell Imaging (Van Gogh System) on detecting ovarian cancer lesions from tissue samplesPatients with histologically proven epithelial ovarian and fallopian tube cancer (referred to as cases), consecutively enrolled in the Ovarian Carcinoma Complex Operative Unit of Policlinico Gemelli. |
| CONTROLS: Healthy women | – | Genetic: Polygenic Risk ScoreWomen with no previous or concomitant personal history of OC (referred as controls), consecutively enrolled in the Rheumatology Complex Operative Unit of Policlinico Gemelli. |
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Cases and controls enrolment will be conducted in the ovarian cancer and rheumatology outpatient clinics of the Fondazione Policlinico Universitario Agostino Gemelli IRCCS, respectively.
Key inclusion criteria (2 listed)
- For cases: women with a first-time diagnosis of histologically confirmed epithelial ovarian or fallopian tube cancer.
- For Controls women with no concomitant or past OC diagnosis.
Key exclusion criteria (1 listed)
- For both cases and controls: the presence of concurrent malignancies other from OC.
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 ScoreFor the PRS analysis, SNPs for genotyping will be selected based on the latest findings from GWAS on EOC, particularly leveraging the results, as reported by Dareng et al. (doi:10.1038/s41431-021-00987-7). The PRS will be calculated as a weighted sum of risk alleles based on the selected SNPs. | Genetic | CASES: women with ovarian cancer, CONTROLS: Healthy women |
| Biopsy on normal contralateral ovaryDuring fertility-sparing surgery for early-stage ovarian cancer, tissue samples will be obtained from macroscopically normal ovarian tissue and analyzed ex vivo using Full-Field Optical Coherence Tomography (FF-OCT) combined with Dynamic Cell Imaging (DCI). The analysis will be performed with the VanGogh biopsy system (AQUYRE Biosciences). | Diagnostic test | CASES: women with ovarian cancer |
| Pharmacogenetic profilesIdentifying distinct pharmacogenetic profiles associated with different responses and toxicities from standard treatments. Patients will be divided into different groups based on the treatment type received (i.e. PARPi, chemo, moAB) and each drug will be characterised by different groups of pharmacogenetic profiles involved in their efficacy and toxicity. The genetic fingerprints involved in the absorption, distribution, metabolism and elimination of administered drugs will be evaluated to retrospectively correlate the efficacy and the safety profile of therapies and the expected enzymatic activity of patients. | Genetic | CASES: women with ovarian cancer |
| Full-Field Optical Coherence Tomography (FF-OCT), combined with Dynamic Cell Imaging (Van Gogh System) on detecting ovarian cancer lesions from tissue samplesAlso: biopsyTissue samples retrieved during surgery in eligible patients will be analyzed ex vivo using Full-Field Optical Coherence Tomography and Dynamic Cell Imaging. Samples will be assessed without any alteration, damage, or need for fixation, and this procedure will not interfere with the standard diagnostic workflow. | Diagnostic test | CASES: women with ovarian cancer |
Primary outcome
Odds of developing EOC by different PRS percentiles
Time frame: At enrollment
Correlation between PRS percentiles and EOC risk
3 secondary outcomes
Correlation of PRS percentiles and covariates
Time frame: At enrollment
Diagnostic accuracy of Full-Field Optical Coherence Tomography (FF-OCT), combined with Dynamic Cell Imaging (Van Gogh System)
Time frame: At enrollment
Frequency of functional genotypes in drug-metabolizing enzymes and transporters
Time frame: At enrollment
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 3 Mar 2026.
- Individual participant dataSharing planned: No
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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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Ovarian Cancer, run by Catholic University of the Sacred Heart at 1 site in Italy.
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 2 inclusion and 1 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: looking for participants now, as of the sponsor's last update on 3 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. 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?
Contact Stefania Boccia (+39 0630154396, stefania.boccia@unicatt.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Odds of developing EOC by different PRS percentiles (time frame: At enrollment). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 3 Mar 2026.