Investigation of genetic factors in primary ovarian insufficiency

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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• Autologous Hair Follicle Secretome + PRP for POI

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.