Next-Generation Endometriosis Diagnostics Through Comprehensive Multi-Dimensional Analysis

Status: Recruiting
Location: See all (2) locations...
Intervention Type: Other
Study Type: Observational
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
Participation Requirements
Sex: Female
Minimum Age: 18
Maximum Age: 40
Healthy Volunteers: t
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⁃ 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.

Locations
Other Locations
Italy
Azienda Ospedaliero Universitaria Renato Dulbecco di Catanzaro
ACTIVE_NOT_RECRUITING
Catanzaro
IRCCS San Raffaele Hospital
RECRUITING
Milan
Contact Information
Primary
LUCA PAGLIARDINI
pagliardini.luca@hsr.it
0226434834
Backup
ENRICO PAPALEO
papaleo.enrico@hsr.it
0226434310
Time Frame
Start Date: 2024-11-07
Estimated Completion Date: 2026-08-30
Participants
Target number of participants: 530
Treatments
Cases with both endometriosis and adenomyosis
100 women diagnosed with both endometriosis and adenomyosis (cases). These participants are part of couples seeking fertility treatment at Assisted Reproduction Centers. The diagnosis of both endometriosis and adenomyosis will be made through ultrasound imaging at the IVF centers. The recruitment involves the collection of blood for genetic and epigenetic analysis, and acquiring ultrasound images for machine learning analysis.
Cases with only endometriosis
15 women diagnosed exclusively with endometriosis (cases): This subgroup consists of women who have been diagnosed with endometriosis but show no ultrasound evidence of adenomyosis. The recruitment involves the collection of blood for genetic and epigenetic analysis, acquiring ultrasound images for machine learning analysis, and collecting uterine fluid samples to study gene expression profiles through uterine fluid extracellular vesicles (UF-EVs).
Cases with only adenomyosis
15 women diagnosed exclusively with adenomyosis (cases): This subgroup includes women diagnosed solely with adenomyosis, without any ultrasonographic signs of endometriosis. The recruitment involves the collection of blood for genetic and epigenetic analysis, acquiring ultrasound images for machine learning analysis, and collecting uterine fluid samples to study gene expression profiles through uterine fluid extracellular vesicles (UF-EVs).
Controls
400 women from couples seeking fertility treatment at infertility clinics (controls): These participants, who will be part of couples attempting to conceive, will be actively seeking treatment for infertility or other gynecological symptoms. Crucially, these individuals will have undergone ultrasound screenings that have excluded the presence of endometriosis or adenomyosis. The recruitment involves the collection of blood for genetic and epigenetic analysis, and acquiring ultrasound images for machine learning analysis.
Cases of endometriosis with pre-existing genotyping data
This group will consist of 300 DNA biobanked samples from women diagnosed with endometriosis. These samples come with pre-existing genotyping data, which will be integrated into the study to provide a robust genetic baseline for comparative analyses.
Related Therapeutic Areas
Sponsors
Collaborators: AUO Renato Dulbecco
Leads: IRCCS San Raffaele

This content was sourced from clinicaltrials.gov