Investigation of Copy Number Variations and Genetic Variants in POI

Launched by OSPEDALE POLICLINICO SAN MARTINO · Apr 6, 2022

Keywords

ClinConnect Summary

This clinical trial is investigating the genetic causes of Primary Ovarian Insufficiency (POI), a condition where the ovaries stop functioning properly before age 40, leading to issues like infertility and hormonal imbalances. The researchers hope to better understand the various genetic changes that might contribute to POI, which affects about 1% of women, with higher rates in some families. By identifying these genetic factors, the study aims to improve our knowledge of the condition and possibly find better treatment options.

To participate in the trial, women must be diagnosed with POI before age 38 and have specific indicators of reduced ovarian function, such as high hormone levels or low ovarian reserve. However, those with prior conditions like ovarian surgery, cancer treatments, or certain diseases will not be included. Participants can expect to undergo tests that will help researchers gather information about the genetic aspects of their condition, ultimately contributing to a better understanding of POI and its effects on health.

Gender

FEMALE

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.