NCT05327283 Investigation of Copy Number Variations and Genetic Variants in POI
| NCT ID | NCT05327283 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Ospedale Policlinico San Martino |
| Condition | Primary Ovarian Insufficiency |
| Study Type | OBSERVATIONAL |
| Enrollment | 100 participants |
| Start Date | 2012-01-31 |
| Primary Completion | 2030-12-31 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 100 participants in total. It began in 2012-01-31 with a primary completion date of 2030-12-31.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
Primary ovarian insufficiency (POI), also known as premature ovarian failure, is an ovarian defect characterized by the premature (before the age of 40 years) depletion of ovarian follicles. POI affects about 1% of women, reaching 30% in some familial cases. This heterogeneous disorder is characterized by progressive cessation of the ovarian function with temporary or intermittent amenorrhea associated with elevated serum FSH concentration and low AMH dosage. Low serum AMH dosage is able to detect a diminished ovarian pool occurring before the onset of FSH elevation and the ultimate deficiency leading to amenorrhea. POI causes infertility and a poor ovarian response in IVF stimulations, and it has important health consequences for affected patients, including psychological distress, infertility, osteoporosis, autoimmune disorders, ischaemic heart disease. Although the cause of POI remains unknown in about 80% of the cases, several mechanisms have been proposed to explain ovarian dysfunction. Currently, a wide spectrum of causes has been linked to POI, including genetic, autoimmune, infectious, or iatrogenic ones. Genetic causes are highly heterogeneous and might explain at least some of the sporadic idiopathic cases, which comprise 50-90% of cases. Ten to fifteen percent of cases are X-linked abnormalities, mainly Turner Syndrome (45,X) or X structural abnormalities such as X deletions, X inversions, isochromosomes or X-autosome translocations. Also fragile X mental retardation 1 (FMR1) gene permutation (defined as having 55 to 200 CGG repeats in the 5' untranslated region of the gene) is another frequent genetic etiology. Irrespectively, the majority of cases remains idiopathic, and identifying precise causative genes for POI has been challenging.
Eligibility 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.
Contact & Investigator
Paola Scaruffi, PhD
✉ paola.scaruffi@hsanmartino.itPaola Scaruffi
PRINCIPAL INVESTIGATOR
Ospedale San Martino
Frequently Asked Questions
Who can join the NCT05327283 clinical trial?
This trial is open to female participants only, aged 15 Years or older, up to 38 Years, studying Primary Ovarian Insufficiency. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT05327283 currently recruiting?
Yes, NCT05327283 is actively recruiting participants. Contact the research team at paola.scaruffi@hsanmartino.it for enrollment information.
Where is the NCT05327283 trial being conducted?
This trial is being conducted at Genova, Italy.
Who is sponsoring the NCT05327283 clinical trial?
NCT05327283 is sponsored by Ospedale Policlinico San Martino. The principal investigator is Paola Scaruffi at Ospedale San Martino. The trial plans to enroll 100 participants.