Study on Fertility Parameters in Women With Germline Variants in BRCA1 and BRCA2
Launched by FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS · Nov 26, 2024
Trial Information
Current as of July 25, 2025
Not yet recruiting
Keywords
ClinConnect Summary
This clinical trial is focused on understanding how carrying specific genetic changes, known as pathogenic variants, in the BRCA1 and BRCA2 genes affects fertility in women. These genes are important because they help protect against certain cancers, but having a variant can increase the risk of breast and ovarian cancers. The study aims to learn about the number of pregnancies women with these genetic variants have and to explore factors like menopause and pregnancy outcomes. This information could help improve care for women who are BRCA carriers.
To be eligible for this study, participants must be women over the age of 18 who have tested positive for a pathogenic variant in the BRCA genes. Family members who do not carry these variants may also be included as a comparison group. Participants can expect to share their pregnancy history and other related health information. The study is not currently recruiting, but it aims to gather important data that could inform future health decisions for women with these genetic changes.
Gender
FEMALE
Eligibility criteria
- • BRCA1 and BRCA2 carriers
- Inclusion Criteria:
- • age \> 18 years
- • presence of a pathogenic variant in the BRCA genes
- • signed informed consent Exclusion Criteria
- • presence of a pathogenic variant in another gene (not BRCA)
- • significant psychiatric or clinical impairment affecting the ability to consent to the study
- • Control cohort
- Inclusion Criteria:
- • - Relatives up to the third degree of the first cohort who tested negative on predictive testing for the familial pathogenic variant in the BRCA genes, matched for age where possible.
- Exclusion Criteria:
- • absence of a pathogenic variant in another gene (non-BRCA) found in a family member
- • significant psychiatric or clinical impairment affecting the ability to consent to the study
About Fondazione Policlinico Universitario Agostino Gemelli Irccs
Fondazione Policlinico Universitario Agostino Gemelli IRCCS is a leading research and healthcare institution based in Rome, Italy, renowned for its commitment to advancing medical science and improving patient care. As a prominent academic medical center affiliated with the Catholic University of the Sacred Heart, it integrates clinical practice, education, and research, fostering innovation in various fields of medicine. The foundation conducts a wide range of clinical trials aimed at developing new therapies and enhancing treatment protocols, with a focus on translational research that bridges the gap between laboratory discoveries and patient care. Its multidisciplinary approach and dedication to high ethical standards position it as a key player in the landscape of clinical research and healthcare improvement in Italy and beyond.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Roma, Rm, Italy
Patients applied
Trial Officials
Emanuela Lucci Cordisco
Principal Investigator
Fondazione Policlinico Universitario A. Gemelli, IRCCS
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported