Genetic markers linked to chemotherapy-related ovarian damage in women who preserved ovarian tissue before treatment

Genetic Markers of Susceptibility to Chemotherapy-induced Ovarian Damage in Cancer Patients Undergoing Ovarian Biopsy for Cryopreservation.

This project will test whether genetic changes found in frozen ovarian tissue can predict which women aged 18–38 with breast cancer or Hodgkin lymphoma will develop premature ovarian insufficiency after chemotherapy.

Quick facts

• Study type: Observational
• Enrollment: 50 (estimated)
• Ages: 18 Years to 38 Years
• Sex: Female
• Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna (Academic / other)
• Drugs / interventions: chemotherapy
• Locations: 1 site (Bologna, Bologna)
• Trial ID: NCT07270679 on ClinicalTrials.gov

What this trial studies

This observational study analyzes cryopreserved ovarian biopsy tissue from women who preserved ovarian tissue prior to gonadotoxic chemotherapy to look for genetic changes associated with later premature ovarian insufficiency (POI). Investigators will perform genetic and molecular analyses on stored ovarian samples and link those findings to clinical outcomes and hormonal markers at least six months after treatment. People with prior gonadotoxic treatments, ongoing ovarian-suppressing hormonal therapy, or known genetic syndromes that cause POI are excluded. The aim is to identify genetic variants or tissue-level changes that correlate with loss of ovarian function and could inform future fertility-preservation decisions.

Who should consider this trial

Good fit: Ideal participants are women aged 18–38 with breast cancer or Hodgkin lymphoma who had an ovarian biopsy and cryopreserved ovarian tissue before starting gonadotoxic therapy, completed that therapy at least six months ago, and can give informed consent for genetic data use.

Not a fit: Patients who had prior gonadotoxic treatments before cryopreservation, who are receiving ovarian-suppressing hormonal therapy, who carry known genetic syndromes linked to POI, or who did not preserve ovarian tissue are unlikely to benefit from this study's findings.

Why it matters

Potential benefit: If successful, this could help identify women at high risk of chemotherapy-induced POI so clinicians can offer personalized fertility-preservation counseling and tailored follow-up.

How similar studies have performed: Preliminary small studies suggest a genetic contribution to chemotherapy-induced POI, but large-scale validation using cryopreserved ovarian tissue is limited and this specific tissue-based approach is relatively novel.

Eligibility criteria

Inclusion Criteria:

* Age ≥ 18 and ≤ 38 years at the time of cryopreservation
* Patient diagnosed with breast cancer or lymphoma, who underwent ovarian biopsy and cryopreservation of ovarian tissue prior to the initiation of gonadotoxic treatment
* Gonadotoxic therapy completed at least 6 months prior
* Written informed consent obtained for participation in the study and for the processing of personal, sensitive, and genetic data

Exclusion Criteria:

* Patients with a history of gonadotoxic treatments prior to ovarian tissue cryopreservation
* Patients undergoing hormonal therapy that suppresses ovarian function (e.g., GnRH analogs)
* Presence of other conditions potentially responsible for premature ovarian insufficiency \[e.g., BRCA1 and BRCA2 mutations, Li-Fraumeni syndrome, Bloom syndrome, Fanconi anemia, Fragile X syndrome, Cowden syndrome, Lynch syndrome (Hereditary Non-Polyposis Colorectal Cancer - HNPCC), Ataxia-Telangiectasia\]
* Family history of premature ovarian insufficiency

Where this trial is running

Bologna, Bologna

• IRCCS Azienda Ospedaliero-Universitaria di Bologna — Bologna, Bologna, Italy (Recruiting)

Study contacts

• Study coordinator: Diego Raimondo, MD

Conditions Breast Cancer; Hodgkin Lymphoma