Evaluation of Genetic Signature in Endometriosis Disease by Non Invasive Sampling

Study Overview
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Brief Summary
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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
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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).

Official Title
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Evaluation of Genetic Signature in Endometriosis Disease by Non Invasive Sampling

Conditions
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Endometriosis, Hypofertility

Intervention / Treatment
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* Other: Observational study


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 45 Years

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| case<br>Patients with endometriotic adnexal pathology | Other: Observational study<br>* Observational study in different tissues in identifing new genetic markers related to endometriosis disease<br>|
| control<br>Patients with non endometriotic adnexal pathology | Other: Observational study<br>* Observational study in different tissues in identifing new genetic markers related to endometriosis disease<br>|
| analytical control<br>Patients with no gynecological pathology, not undergoing surgery | Other: Observational study<br>* Observational study in different tissues in identifing new genetic markers related to endometriosis disease<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Next Generation Sequencing technical validation | 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] | 1 month | 
| Wet lab kit validation | Assessing the quality of the kit by mapping the reads against public miRNA databases. Following benchmark will be considered: Total reads mapped [integer] | 1 month | 

Secondary Outcome Measures

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

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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endo