Evaluation of Genetic Signature in Endometriosis Disease by Non Invasive Sampling (niEndometriosi)

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.

Study Overview

• Status: Enrolling by invitation
• Conditions: Endometriosis; Hypofertility
• Intervention / Treatment: Other: Observational study

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 Type: Observational
• Enrollment (Estimated): 150

Contacts and Locations

Study Locations

• Italy
  • Rome, Italy, 00138
    • Eurofins Genoma

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Groups of study:

• patients with diagnosed endometriotic adnexal pathology (case, CA)
• patients with non-endometriotic adnexal pathology (control, CO)
• patients with no gynecological pathology, not undergoing surgery (analytical control)

Description

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 Plan

How is the study designed?

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
case; Patients with endometriotic adnexal pathology	Other: Observational study; Observational study in different tissues in identifing new genetic markers related to endometriosis disease
control; Patients with non endometriotic adnexal pathology	Other: Observational study; Observational study in different tissues in identifing new genetic markers related to endometriosis disease
analytical control; Patients with no gynecological pathology, not undergoing surgery	Other: Observational study; Observational study in different tissues in identifing new genetic markers related to endometriosis disease

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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
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

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

Collaborators and Investigators

• Sponsor: Eurofins Genoma

Publications and helpful links

General Publications

• Dabi Y, Suisse S, Puchar A, Delbos L, Poilblanc M, Descamps P, Haury J, Golfier F, Jornea L, Bouteiller D, Touboul C, Darai E, Bendifallah S. Endometriosis-associated infertility diagnosis based on saliva microRNA signatures. Reprod Biomed Online. 2023 Jan;46(1):138-149. doi: 10.1016/j.rbmo.2022.09.019. Epub 2022 Sep 27.
• Bendifallah S, Dabi Y, Suisse S, Jornea L, Bouteiller D, Touboul C, Puchar A, Darai E. A Bioinformatics Approach to MicroRNA-Sequencing Analysis Based on Human Saliva Samples of Patients with Endometriosis. Int J Mol Sci. 2022 Jul 21;23(14):8045. doi: 10.3390/ijms23148045.
• Bendifallah S, Suisse S, Puchar A, Delbos L, Poilblanc M, Descamps P, Golfier F, Jornea L, Bouteiller D, Touboul C, Dabi Y, Darai E. Salivary MicroRNA Signature for Diagnosis of Endometriosis. J Clin Med. 2022 Jan 26;11(3):612. doi: 10.3390/jcm11030612.
• Bendifallah S, Dabi Y, Suisse S, Jornea L, Bouteiller D, Touboul C, Puchar A, Darai E. MicroRNome analysis generates a blood-based signature for endometriosis. Sci Rep. 2022 Mar 8;12(1):4051. doi: 10.1038/s41598-022-07771-7.
• Dabi Y, Suisse S, Jornea L, Bouteiller D, Touboul C, Puchar A, Darai E, Bendifallah S. Clues for Improving the Pathophysiology Knowledge for Endometriosis Using Serum Micro-RNA Expression. Diagnostics (Basel). 2022 Jan 12;12(1):175. doi: 10.3390/diagnostics12010175.
• Bendifallah S, Puchar A, Suisse S, Delbos L, Poilblanc M, Descamps P, Golfier F, Touboul C, Dabi Y, Darai E. Machine learning algorithms as new screening approach for patients with endometriosis. Sci Rep. 2022 Jan 12;12(1):639. doi: 10.1038/s41598-021-04637-2.

Study record dates

Study Major Dates

• Study Start (Actual): May 1, 2023
• Primary Completion (Estimated): July 31, 2024
• Study Completion (Estimated): December 31, 2024

Study Registration Dates

• First Submitted: October 13, 2023
• First Submitted That Met QC Criteria: October 19, 2023
• First Posted (Actual): October 25, 2023

Study Record Updates

• Last Update Posted (Actual): February 20, 2024
• Last Update Submitted That Met QC Criteria: February 16, 2024
• Last Verified: February 1, 2024

More Information

Terms related to this study

• Keywords: endo
• Additional Relevant MeSH Terms: Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Diseases; Genital Diseases, Female; Endometriosis
• Other Study ID Numbers: 01-23

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No