BRCA MutationPROBE-IINCT05769517
Prediction of Germline BRCA 1/2 Genes From Healthy Ovaries
An observational study of BRCA Mutation and Ovarian Cancer, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
Trial summary
The project aims at enhancing performance metrics and prospectively validating a radiogenomics model based on ovarian US images for predicting germline breast cancer susceptibility gene 1 and/or 2 (BRCA) status in women with healthy ovaries. Read more about this study
- Who is it for?
- Any age, women onlyHealthy volunteers can take part
- Conditions the study is for
- BRCA Mutation, Ovarian Cancer, Ultrasound Therapy; Complications
- What is being tested?
- Germinal BRCA
- How many people
- 6,465 participants
- Where
- 1 siteItaly
- Study dates
- 20 Mar 2023to 8 Mar 2031
- 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 Any age
- Women only
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: We will conduct a retrospective multicenter observational study aimed at collecting US images of healthy ovaries with known BRCA status.
Who may be able to join
- Availability of gBRCA1/2 test results
- Transvaginal pelvic US performed providing at least one picture of one healthy ovary
- US images stored in .dicom format.
Who cannot join
- Personal diagnosis of OC
- Ovarian abnormal findings (eg. ovarian endometriomas, dermoid cyst, ovarian cystoadenofibroma, ovarian borderline tumour…) with the exception of functional cysts at pelvic US
- gBRCA1/2 testing results nor provided by an ISO 1589 accredited laboratory
- Refusal to provide written informed consent
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
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Rome
Camilla Nero, PhD, 0630158667, camilla.nero@policlinicogemelli.it
About this study
Official title: Prediction of Germline BRCA 1/2 Genes Pathogenetic Variants From Healthy Ovaries Ultrasound Images: Radiogenomics as an Innovative Tool to Prevent BRCA-related Cancers
The project aims at enhancing performance metrics and prospectively validating a radiogenomics model based on ovarian US images for predicting germline breast cancer susceptibility gene 1 and/or 2 (BRCA) status in women with healthy ovaries. The project is divided in two operational phases:
Model development phase (ambispective)
Read more
AIM 1: To define and implement a proper and fine-tuned image preprocessing pipeline on the existing dataset; AIM 2: To enlarge dataset size with new real images from different centers and apply data augmentation techniques, deep neural network models combined with the aforementioned handcrafted imaging features from radiomics analysis;
Implementation and validation phase (prospective)
AIM 3: To further cross-validate the predictive model on US images acquired prospectively in an observational multicenter study.
- Being tested
- Germinal BRCA
- Medical subject headings
- Ovarian Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Germinal BRCADiagnostic test
We will conduct a multicenter prospective observational study aimed at automatically implementing the predictive model and collecting US images of healthy ovaries from patients tested for germline BRCA pathogenetic variants according to current indications.
What is being measured
The primary outcome is the main question the study is designed to answer.
Radiogenomics model for predicting germline breast cancer.
The project aims at enhancing performance metrics and prospectively validating a radiogenomics model based on ovarian US images for predicting germline breast cancer susceptibility gene 1 and/or 2 (BRCA) status in women with healthy ovaries.
Measured: 96 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Mar 2023
- Study start20 Mar 2023
- Primary completion31 Dec 2026 (estimated)
- Study completion8 Mar 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for BRCA MutationStudies of the same condition, open and under way.
- More trials run by Fondazione Policlinico Universitario Agostino Gemelli IRCCSThe sponsor's other registered studies.
- 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
- Other
- Time perspective
- Other
- Enrolment
- 6,465 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Camilla Nero, Principal investigator, Fondazione Policlinico Universitario Agostino Gemelli IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05769517
- Sponsor's protocol ID
- 5505
- Acronym
- PROBE-II
- Status last verified
- Apr 2026
- First submitted
- 3 Mar 2023
- Last updated
- 24 Apr 2026
- Results posted
- 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 24 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prediction of Germline BRCA 1/2 Genes Pathogenetic Variants From Healthy Ovaries Ultrasound Images: Radiogenomics as an Innovative Tool to Prevent BRCA-related Cancers
- ClinicalTrials.gov ID
- NCT05769517
- Acronym / sponsor ID
- PROBE-II / 5505
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 6,465 participants (estimated)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Study start
- 20 Mar 2023 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 8 Mar 2031 (estimated)
- First posted
- 15 Mar 2023 (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 project aims at enhancing performance metrics and prospectively validating a radiogenomics model based on ovarian US images for predicting germline breast cancer susceptibility gene 1 and/or 2 (BRCA) status in women with healthy ovaries. The project is divided in two operational phases:
Model development phase (ambispective)
AIM 1: To define and implement a proper and fine-tuned image preprocessing pipeline on the existing dataset; AIM 2: To enlarge dataset size with new real images from different centers and apply data augmentation techniques, deep neural network models combined with the aforementioned handcrafted imaging features from radiomics analysis;
Implementation and validation phase (prospective)
AIM 3: To further cross-validate the predictive model on US images acquired prospectively in an observational multicenter study.
Study design
- Observational model
- Other
- Time perspective
- Other
Who may qualify
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- We will conduct a retrospective multicenter observational study aimed at collecting US images of healthy ovaries with known BRCA status.
Key inclusion criteria (3 listed)
- Availability of gBRCA1/2 test results
- Transvaginal pelvic US performed providing at least one picture of one healthy ovary
- US images stored in .dicom format.
Key exclusion criteria (4 listed)
- Personal diagnosis of OC
- Ovarian abnormal findings (eg. ovarian endometriomas, dermoid cyst, ovarian cystoadenofibroma, ovarian borderline tumour…) with the exception of functional cysts at pelvic US
- gBRCA1/2 testing results nor provided by an ISO 1589 accredited laboratory
- Refusal to provide written informed consent
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 |
|---|---|---|
| Germinal BRCAWe will conduct a multicenter prospective observational study aimed at automatically implementing the predictive model and collecting US images of healthy ovaries from patients tested for germline BRCA pathogenetic variants according to current indications. | Diagnostic test | – |
Primary outcome
Radiogenomics model for predicting germline breast cancer.
Time frame: 96 months
The project aims at enhancing performance metrics and prospectively validating a radiogenomics model based on ovarian US images for predicting germline breast cancer susceptibility gene 1 and/or 2 (BRCA) status in women with healthy ovaries.
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 24 Apr 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.
Camilla Nero principal investigator
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
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 BRCA Mutation and Ovarian Cancer, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS 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 3 inclusion and 4 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 24 Apr 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 Camilla Nero (+390630156779, camilla.nero@policlinicogemelli.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Radiogenomics model for predicting germline breast cancer. (time frame: 96 months). 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 24 Apr 2026.