Next-Generation Endometriosis Diagnostics Through Comprehensive Multi-Dimensional Analysis
NCT Number: NCT06572852
Acronym: AdEnd
Status: NOT_YET_RECRUITING
Study Type: OBSERVATIONAL
Conditions: Endometriosis|Adenomyosis
Sponsor: IRCCS San Raffaele
Sex: FEMALE
Age: ADULT
Enrollment: 530
Study Design: Observational Model: |Time Perspective: p
Start Date: 2024-08-31
Completion Date: 2026-08-30

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.

Primary Outcome Measures: Identification of epigenetic profile, To identify specific CpG sites that exhibit differential methylation levels between endometriosis cases and controls. These methylation profiles, polygenic risk scores (PRS), and clinical questionnaire data will be used to classify cases and controls through machine learning analysis., 2 years|Identification of genetic profile, In addition to the differential methylation analysis, 'high-resolution SNP genotyping' will be employed. This genotyping will adjust the methylation analysis and aid in deriving polygenic risk scores., 2 years
Secondary Outcome Measures: Development and validation of a diagnostic model, To develop and validate a diagnostic model integrating ultrasound imaging with genetic, epigenetic, and clinical data to accurately identify and differentiate adenomyosis as an extension of endometriosis, and to predict pregnancy outcomes in women undergoing IVF., 2 years
Other Outcome Measures: Characterization of uterine fluid extracellular vesicles (UF-EVs), To characterize the gene expression profiles of uterine fluid extracellular vesicles (UF-EVs) specific to endometriosis and adenomyosis, we will analyze samples at two critical time points: LH+2 (non-receptive) and LH+7 (receptive). We will compare the obtained gene expression data against previously collected data from fertile and infertile patients. By comparing these profiles, we aim to identify distinct molecular signatures associated with each condition, enhancing our understanding of their impact on fertility and endometrial receptivity. Also, this comparison will allow us to refine diagnostic markers and potentially develop targeted interventions for affected women., 2 years