Evaluation of Genetic Signature in Endometriosis Disease by Non Invasive Sampling

• Conditions: Endometriosis; Hypofertility
• Interventions: Other: Observational study

• Registration Number: NCT06100471
• Lead Sponsor: Eurofins Genoma

Brief Summary

Endometriosis is a disease that affects 10-15% of the general population and 50% of infertile women. It is characterized by the presence of endometrial tissue outside the uterine cavity. Endometriosis can lead to infertility by interfering through endocrine and mechanical alterations on the function of the ovaries, fallopian tubes, and uterus. The aim of the study is to define the differential expression of a cluster of RNAs tissue driven for the identification of an RNA profile in saliva, specific for endometriosis. This study focuses on the expression of genes involved in the control and regulation of apoptosis, cell survival, metabolism, cell adhesion and invasion, angiogenesis, inflammation, and estrogen receptor expression levels.

Detailed Description

Retrospective selection based on anamnestic criteria of: 50 patients with diagnosed endometriotic adnexal pathology (case, CA), 50 patients with non-endometriotic adnexal pathology (control, CO) and 50 patients with no gynecological pathology, not undergoing surgery (analytical control).

The study involves collecting a saliva sample from all patients involved in the study, and performing a biopsy from both patients with endometriotic adnexal pathology (CA) and patients with non-endometriotic adnexal pathology (CO).

Study Timeline

• Study Start: 2023-05-01
• Study First Submitted: 2023-10-13
• Study First Submitted QC: 2023-10-19
• Study First Posted: 2023-10-25
• Status Verified: 2024-02
• Last Update Submitted: 2024-02-16
• Last Update Posted: 2024-02-20
• Primary Completion: 2024-07-31
• Study Completion: 2024-12-31

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: Female
• Target Recruitment: 150

Inclusion Criteria

• Case population (CA), patients with endometriotic adnexal pathology
• Control population (CO), patients with non-endometriotic adnexal pathology
• Analytical control population (C-), patients with no gynecologic pathology, not undergoing surgery

Exclusion Criteria

• Women with ages outside the inclusion range
• Pregnant patient
• Patient with a personal history of cancer
• Patient infected with HIV

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
case	Observational study	Patients with endometriotic adnexal pathology
analytical control	Observational study	Patients with no gynecological pathology, not undergoing surgery
control	Observational study	Patients with non endometriotic adnexal pathology

Primary Outcome Measures

Name	Time	Method
Wet lab kit validation	1 month	Assessing the quality of the kit by mapping the reads against public miRNA databases. Following benchmark will be considered: Total reads mapped \[integer\]
Next Generation Sequencing technical validation	1 month	Assessing the quality of Next Generation Sequencing via the FASTQC tool. Following benchmarks will be considered: 1.1 Per base sequence quality \[Phred score: positive real number, the higher the better\] 1.2 Total number of sequenced reads \[integer: positiver integer number, the higher the better\]

Secondary Outcome Measures

Name	Time	Method
Tissue validation	2 months	Genetic profiling of miRNOME from saliva versus FFPE-tissues
Clinical validation	4 months	Correlation of miRNOME signature in saliva among cases, controls and analytical groups
Biomarkers identification	7 months	Identification of specific signature related to endometriosis, with at least 2 Log2fold change

Trial Locations

Locations (1)

Eurofins Genoma; 🇮🇹 Rome, Italy