Next-Generation Endometriosis Diagnostics Through Comprehensive Multi-Dimensional Analysis
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexFemale
Age18-40
SponsorIRCCS San Raffaele
About this trial
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
This trial accepts healthy volunteersQualifiers
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.
Disqualifiers
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.
Trial population
The study will involve a total of 530 participants selected from two Assisted Reproduction Centers. The participant population includes: * Group A: 100 women diagnosed with both endometriosis and adenomyosis (cases). * Group B: 15 women diagnosed exclusively with endometriosis (cases). * Group C: 15 women diagnosed exclusively with adenomyosis (cases). * 400 women from couples seeking fertility treatment at infertility clinics (controls). Additionally, Group D will consist of 300 DNA biobank samples from women diagnosed with endometriosis.
Trial design
Design model
Case-control
Time perspective
Other
Treatments tested in this trial
No intervention
Other interventionNo intervention
Treatment groups
530 Participants
are divided into 5 treatment groupsGroup A: Cases with both endometriosis and adenomyosis1 intervention
Group B: Cases with only endometriosis1 intervention
Group C: Cases with only adenomyosis1 intervention
Group D: Controls1 intervention
Group E: Cases of endometriosis with pre-existing genotyping data1 intervention
Trial outcomes
Primary outcomes
1
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.
Time frame
2 years2
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.
Time frame
2 yearsSecondary outcomes
1
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.
Time frame
2 yearsOther outcomes
1
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.
Time frame
2 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
IRCCS San Raffaele
Lead sponsor
AUO Renato Dulbecco
Collaborator
Source ClinicalTrials.gov