Evaluation of Genetic Signature in Endometriosis Disease by Non Invasive Sampling
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Endometriosis
- Sponsor
- Eurofins Genoma
- Enrollment
- 150
- Locations
- 1
- Primary Endpoint
- Wet lab kit validation
- Status
- Enrolling By Invitation
- Last Updated
- 2 years ago
Overview
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).
Investigators
Eligibility Criteria
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
Outcomes
Primary Outcomes
Wet lab kit validation
Time Frame: 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
Time Frame: 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 Outcomes
- Tissue validation(2 months)
- Clinical validation(4 months)
- Biomarkers identification(7 months)