PREDICTION OF GERMLINE BRCA 1/2 GENES FROM HEALTHY OVARIES

Ovarian Cancer Clinical Trial

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05769517
• Other study ID #: 5505
• Status: Recruiting
• Start date: March 20, 2023
• Est. completion date: May 2, 2026

Study information

• Verified date: March 2023
• Source: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical 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. The project is divided in two operational phases:

Retrospective phase

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;

Prospective phase

AIM 3: To further cross-validate the predictive model on US images acquired prospectively in an observational multicenter study.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1300
• Est. completion date: May 2, 2026
• Est. primary completion date: April 1, 2024
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Female
• Age group: N/A and older

Eligibility

Inclusion Criteria:

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.

Exclusion Criteria:

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

Related Conditions & MeSH terms

• BRCA Mutation
• Ovarian Cancer
• Ultrasound Therapy; Complications

Intervention

Diagnostic Test:
• Germinal BRCA
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.

Locations

Country	Name	City	State
Italy	Fondazione Policlinico Universitario Agostino Gemelli IRCCS	Rome

Sponsors (1)

Lead Sponsor	Collaborator
Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Country where clinical trial is conducted

Italy, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.	36 months