Next-Generation Endometriosis Diagnostics Through Comprehensive Multi-Dimensional Analysis
Trial ID: NCT06572852
Status: RECRUITING
Study type: OBSERVATIONAL
Start date: 2024-11-07
Completion date: 2026-08-30
Sponsor: IRCCS San Raffaele
Collaborators: AUO Renato Dulbecco
Conditions: Endometriosis; Adenomyosis
Interventions: No intervention
Locations: Azienda Ospedaliero Universitaria Renato Dulbecco di Catanzaro; IRCCS San Raffaele Hospital
Countries: Italy; Italy
Enrollment: 530
Age range: 18 Years - 40 Years
Sex: FEMALE

Summary:
This study is a multicentric, observational, case-control, non-profit with additional procedures. It aims to deepen the understanding of the chronic gynecological conditions of endometriosis and adenomyosis, which significantly impact women's reproductive health. Its purpose is to improve early diagnosis and personalized treatment of these conditions using a multi-omic approach, that integrates genetic, epigenetic, imaging, and endometrial receptivity data. The goal is also to refine image-based predictions through recent advancements in artificial intelligence and to study uterine extracellular vesicles to assess fertility non-invasively.

The study targets patients with endometriosis and/or adenomyosis and involves women seeking fertility treatments at assisted reproduction centers, who will serve as a control population.

The study comprises both prospective and retrospective components. The prospective recruitment involves the collection of blood and uterine fluid samples, while the retrospective element utilizes pre-existing biobank samples for comprehensive genetic and epigenetic analysis.

Eligibility criteria:
Inclusion Criteria:

Participants eligible for cases with endometriosis and adenomyosis, must meet the following criteria:

* Able to give informed consent for participation in the study.
* European descent.
* Confirmed diagnosis of both endometriosis and adenomyosis through ultrasound screening.
* Listed for assisted reproductive treatment, specifically within their first or second IVF cycle.

Participants eligible for cases with only endometriosis must meet the following criteria:

* Able to give informed consent for participation in the study.
* European descent.
* Confirmed diagnosis of endometriosis with no ultrasound evidence of adenomyosis.
* Enrolled in an assisted reproductive treatment cycle involving embryo thawing.

Participants eligible for cases with only adenomyosis must meet the following criteria:

* Able to give informed consent for participation in the study.
* European descent.
* Confirmed diagnosis of adenomyosis with no ultrasound evidence of endometriosis.
* Enrolled in an assisted reproductive treatment cycle involving embryo thawing.

Participants eligible as controls must meet the following criteria:

* Able to give informed consent for participation in the study.
* European descent.
* Undergone ultrasound screenings that have excluded the presence of endometriosis or adenomyosis.
* Listed for assisted reproductive treatment, specifically within their first or second IVF cycle.
* Presence of reduced ovarian reserve or non-severe male factor infertility.

Exclusion Criteria:

* Patients unable or unwilling to sign the informed consent
* Individuals who exhibit the presence of sactosalpinx or other uterine pathologies such as fibroids, polyps, or irregular endometrial thickening will be excluded from participation in this study.

These exclusion criteria are applicable across all groups to ensure the accuracy and reliability of the study's findings related to endometriosis and adenomyosis.

Outcomes:
Identification of epigenetic profile; Identification of genetic profile