BRCA1 and/or BRCA2 Variant CarriersBFertNCT06710015
Study on Fertility Parameters in Women With Germline Variants in BRCA1 and BRCA2
An observational study of BRCA1 and/or BRCA2 Variant Carriers and Fertility, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
Trial summary
Pathogenic variants (PVs) in the BRCA1 and BRCA2 genes are associated with an increased risk of developing breast and ovarian cancers. According to current guidelines from the National Comprehensive Cancer Network, the risk of developing breast cancer exceeds 60% for both genes, while the risk for ovarian cancer… Read more about this study
- Who is it for?
- Ages 18 to 100 years, women only
- Conditions the study is for
- BRCA1 and/or BRCA2 Variant Carriers, Fertility, Reproductive Age
- How many people
- 128 participants
- Where
- 1 siteItaly
- Study dates
- 1 Dec 2024to 1 Jun 2026
- How long will I take part?
- 1 Day
- 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 to 100 years
- Women only
- Adult, Older adult
Study population: Carriers and non carriers of BRCA pathogenic variants
Who may be able to join
- 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
- 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.
Who cannot join
- 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
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
UOC Genetica Medica Fondazione Policlinico Universitario A.Gemelli IRCCS
Roma, RM, 00136
About this study
Official title: B.Fert: Retrospective and Prospective Observational Study on Fertility Parameters in Women With Germline Variants in BRCA1 and BRCA2
Pathogenic variants (PVs) in the BRCA1 and BRCA2 genes are associated with an increased risk of developing breast and ovarian cancers. According to current guidelines from the National Comprehensive Cancer Network, the risk of developing breast cancer exceeds 60% for both genes, while the risk for ovarian cancer ranges from 39% to 58% for the BRCA1 and from 13% to 29% for the BRCA2. The detection of a pathogenic variant in the BRCA1 or BRCA2 genes necessitates both the establishment of appropriate primary and secondary surveillance measures for carriers and the discussion of the familial implications of such findings.
The molecular basis initially suggesting a possible association between germline variants in BRCA1 and BRCA2 genes and diminished ovarian reserve lies in the cellular impact of impaired or defective repair of DNA double-strand breaks (DSBs) on oocytes. Notably, BRCA1 and BRCA2 genes play a key role in the ATM-related mechanism for DSB repair through the homologous recombination (HR) pathway.
Read more
Although preclinical evidence supports a potential correlation between defective DSB repair and normal follicle maturation processes, clinical studies on large cohorts of patients with pathogenic BRCA1 and BRCA2 variants yield inconsistent results. This discrepancy is likely attributable to the inherent challenges in recruiting a sufficiently homogeneous and statistically significant sample size.
The aim of the study is to evaluate reproductive capacity in women carrying pathogenic variants in the BRCA1/2 genes by assessing the number of pregnancies during the period from January 1, 2018, to December 31, 2023. Secondary objectives include evaluating menopausal characteristics and pregnancy outcomes.
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| BRCA1 and BRCA2 carriers | Inclusion criteria: * age > 18 years * presence of a pathogenic variant in the BRCA genes * signed informed consent for study participation | |
| Control cohort | * >18 y.o * Relatives up to the third degree of kinship from cohort 1 who tested negative on predictive testing for the familial pathogenic variant in the BRCA genes, matched for age where possible. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Evaluate the reproductive capacity in women carrying PVs in BRCA1/2 genes
Evaluate number of pregnancies
Measured: 1 year
Secondary outcomes (1)
The evaluation of menopausal characteristics and pregnancy outcomes
Evaluate: age at menopause, type of menopause, number of miscarriages, age at pregnancies, cancer diagnosis
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Nov 2024
- Study start1 Dec 2024 (estimated)
- Primary completion1 Dec 2025 (estimated)
- Study completion1 Jun 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for BRCA1 and/or BRCA2 Variant CarriersStudies 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
- Case-control
- Time perspective
- Other
- Enrolment
- 128 participants (estimated)
- Target duration
- 1 Day
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Lucci Cordisco Emanuela, Fondazione Policlinico Universitario Agostino Gemelli IRCCS
- Investigators
- Emanuela Lucci Cordisco, Principal investigator, Fondazione Policlinico Universitario Agostino Gemelli IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06710015
- Sponsor's protocol ID
- 6591
- Acronym
- BFert
- Status last verified
- Nov 2024
- First submitted
- 26 Nov 2024
- Last updated
- 29 Nov 2024
- Results posted
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Nov 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- B.Fert: Retrospective and Prospective Observational Study on Fertility Parameters in Women With Germline Variants in BRCA1 and BRCA2
- ClinicalTrials.gov ID
- NCT06710015
- Acronym / sponsor ID
- BFert / 6591
- Conditions
- BRCA1 and/or BRCA2 Variant Carriers, Fertility, Reproductive Age, Menopause, Pregnancy Outcomes
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 128 participants (estimated)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Study start
- 1 Dec 2024 (estimated)
- Primary completion
- 1 Dec 2025 (estimated)
- Study completion
- 1 Jun 2026 (estimated)
- First posted
- 29 Nov 2024 (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.
Pathogenic variants (PVs) in the BRCA1 and BRCA2 genes are associated with an increased risk of developing breast and ovarian cancers. According to current guidelines from the National Comprehensive Cancer Network, the risk of developing breast cancer exceeds 60% for both genes, while the risk for ovarian cancer ranges from 39% to 58% for the BRCA1 and from 13% to 29% for the BRCA2. The detection of a pathogenic variant in the BRCA1 or BRCA2 genes necessitates both the establishment of appropriate primary and secondary surveillance measures for carriers and the discussion of the familial implications of such findings.
The molecular basis initially suggesting a possible association between germline variants in BRCA1 and BRCA2 genes and diminished ovarian reserve lies in the cellular impact of impaired or defective repair of DNA double-strand breaks (DSBs) on oocytes. Notably, BRCA1 and BRCA2 genes play a key role in the ATM-related mechanism for DSB repair through the homologous recombination (HR) pathway.
Although preclinical evidence supports a potential correlation between defective DSB repair and normal follicle maturation processes, clinical studies on large cohorts of patients with pathogenic BRCA1 and BRCA2 variants yield inconsistent results. This discrepancy is likely attributable to the inherent challenges in recruiting a sufficiently homogeneous and statistically significant sample size.
The aim of the study is to evaluate reproductive capacity in women carrying pathogenic variants in the BRCA1/2 genes by assessing the number of pregnancies during the period from January 1, 2018, to December 31, 2023. Secondary objectives include evaluating menopausal characteristics and pregnancy outcomes.
Study design
- Observational model
- Case-control
- Time perspective
- Other
- Target follow-up
- 1 Day
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| BRCA1 and BRCA2 carriers | – | –Inclusion criteria: * age > 18 years * presence of a pathogenic variant in the BRCA genes * signed informed consent for study participation |
| Control cohort | – | –* >18 y.o * Relatives up to the third degree of kinship from cohort 1 who tested negative on predictive testing for the familial pathogenic variant in the BRCA genes, matched for age where possible. |
Who may qualify
- Ages
- 18 to 100 years
- Sex
- Female only
- Age groups
- Adult, Older adult
- Study population
- Carriers and non carriers of BRCA pathogenic variants
Key inclusion criteria (7 listed)
- 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
Key exclusion criteria (2 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Evaluate the reproductive capacity in women carrying PVs in BRCA1/2 genes
Time frame: 1 year
Evaluate number of pregnancies
1 secondary outcome
The evaluation of menopausal characteristics and pregnancy outcomes
Time frame: 1 year
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 29 Nov 2024.
- Individual participant dataSharing planned: No
Related trials for BRCA1 and/or BRCA2 Variant Carriers
RecruitingObservational study
Prospective Cohort Study of Germline Variant Carriers With BRCA1 or BRCA2
BRCA1 and/or BRCA2 Variant Carriers, Ovarian Carcinoma
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.
Emanuela Lucci Cordisco 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 BRCA1 and/or BRCA2 Variant Carriers and Fertility, 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 7 inclusion and 2 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: opening soon, as of the sponsor's last update on 29 Nov 2024. 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 Emanuela Lucci Cordisco, MD (+39 0630156780, emanuela.luccicordisco@policlinicogemelli.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Evaluate the reproductive capacity in women carrying PVs in BRCA1/2 genes (time frame: 1 year). 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 29 Nov 2024.