Investigation of genetic factors in primary ovarian insufficiency
Insight Into the Genomics of Idiopathic Premature Ovarian Insufficiency
This study is trying to find out if certain genes play a role in primary ovarian insufficiency in women diagnosed before age 38, to improve future testing and treatment options.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 15 Years to 38 Years |
| Sex | Female |
| Sponsor | Ospedale Policlinico San Martino Academic / other |
| Locations | 1 site (Genova) |
| Trial ID | NCT05327283 on ClinicalTrials.gov |
What this trial studies
This observational study aims to explore the genetic underpinnings of primary ovarian insufficiency (POI), a condition characterized by the premature depletion of ovarian follicles. By utilizing advanced genome-wide strategies such as high-resolution array-CGH and whole exome sequencing (WES), the researchers seek to identify genetic variants that contribute to the heterogeneity of POI. The study focuses on women diagnosed with POI before the age of 38, examining various markers of ovarian reserve to better understand the condition's biological mechanisms. The ultimate goal is to enhance testing and treatment strategies for affected women in the future.
Who should consider this trial
Good fit: Ideal candidates for this study are women diagnosed with primary ovarian insufficiency before the age of 38 who exhibit specific markers of diminished ovarian reserve.
Not a fit: Patients with POI related to conditions such as previous ovarian surgery, chemotherapy, or known autoimmune diseases may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnostic and therapeutic options for women suffering from primary ovarian insufficiency.
How similar studies have performed: While there have been studies investigating genetic factors in POI, this approach utilizing genome-wide strategies is relatively novel and aims to address unexplained aspects of the condition.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * age at diagnosis \<38 years; * a normal 46,XX karyotype (no FRM1 premutation); * at least one marker of ovarian reserve not age-appropriate: * baseline FSH levels \> cut-off \[1\] and/or * age-specific AMH \< cut-off \[2\] and/or * AFC \< 5; and/or * cancellation of a PMA cycle because of poor response (\<3 follicles) to high-dose gonadotrophins (250 U/die) and/or * retrieval of \< 4 oocytes in response to high-dose stimulation protocols (3000 U of gonadotrophins). Exclusion Criteria: * patients with POI-related conditions, such as ovarian surgery or previous chemo- or radio-therapy; endometriosis or known autoimmune or metabolic diseases.
Where this trial is running
Genova
- UOS Fisiopatologia della Riuproduzione Umana — Genova, Italy (Recruiting)
Study contacts
- Principal investigator: Paola Scaruffi — Ospedale San Martino
- Study coordinator: Paola Scaruffi, PhD
- Email: paola.scaruffi@hsanmartino.it
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.