NCT07270679Recruiting
Genetic Markers of Susceptibility to Chemotherapy-induced Ovarian Damage in Cancer Patients Undergoing Ovarian Biopsy for Cryopreservation.
Source: ClinicalTrials.gov · Last updated 8 Dec 2025
Brief summary (registry, in English)
Italian Cancer Registry data show a steady increase in the number of cancer survivors due to advances in treatment. However, these treatments can impair ovarian function, causing premature ovarian insufficiency (POI). Women with POI may experience vasomotor symptoms, infertility, psychological distress, and a significant reduction in quality of life. POI typically occurs before age 40 and is characterized by irregular menstruation and biochemical alterations (elevated gonadotropins and low estradiol). Chronic estrogen deficiency in POI is associated with increased risks of cardiovascular disease, cognitive decline, osteoporosis, psychological issues, and reproductive dysfunction. Preliminary studies suggest that chemotherapy-induced POI results from genetic changes in ovarian tissue, indicating a crucial role of genetic variations in individual susceptibility. Incidence rates of POI vary widely: about 38% after Hodgkin lymphoma and between 15% and 94% after breast cancer. Currently, there is no personalized pre-treatment risk assessment, complicating informed decision-making regarding ovarian function and fertility. Fertility preservation options include ovarian tissue and oocyte cryopreservation. This study aims to compare the mutational status of DNA repair genes in ovarian tissue fragments from women who underwent ovarian cryopreservation and completed chemotherapy for lymphoma or breast cancer, categorized into those who developed POI and those who did not. Additionally, the mutational load of these genes will be compared between groups. The study includes patients aged 18-38 who preserved ovarian tissue before gonadotoxic therapy between 2002 and 2024 at the IRCCS Azienda Ospedaliero-Universitaria di Bologna, Policlinico di S. Orsola. Two groups will be analyzed: Group 1: Patients who developed POI after gonadotoxic treatment Group 2: Patients who did not develop POI Group assignment will be based on clinical and anamnesis data. Cryopreserved ovarian tissue from all participants will undergo advanced molecular analyses by Next Generation Sequencing (NGS) to assess germline and somatic mutational status and load. The genetic variant analysis, conducted in collaboration with the Computational Genomics Unit of IRCCS AOUBO, will focus on a panel of 26 DNA repair genes. Bioinformatic analysis will be performed using the Ion Reporter platform, with clinically relevant variants validated by orthogonal methods. The study plans to enroll approximately 50 patients, 25 per group.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 50 (estimated)
- First submitted
- 26 Nov 2025
- Start date
- Jul 2025
- Primary completion date
- Oct 2026
- Lead sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
- Diseases
- Hodgkin lymphoma, Ovarian cancer
- NCT number
- NCT07270679
What you commit to
- Study type: Observational
- Planned participants: 50
- From Jul 2025 to the primary completion date, Oct 2026
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- Patients with a history of gonadotoxic treatments prior to ovarian tissue cryopreservation
- Patients undergoing hormonal therapy that suppresses ovarian function (e.g., GnRH analogs)
Other illness
- 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
Who the study is looking for
- 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
Age in the registry: 18 years to 38 years · Sex: Female · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| IRCCS Azienda Ospedaliero-Universitaria di Bologna Coordinator of this site? Confirm its status | Bologna | Italy | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.