Evaluation of Genetic Signature in Endometriosis Disease by Non Invasive Sampling

Endometriosis Clinical Trial

— niEndometriosi  

Official title:

Evaluation of Genetic Signature in Endometriosis Disease by Non Invasive Sampling

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT06100471
• Other study ID #: 01-23
• Status: Enrolling by invitation
• Start date: May 1, 2023
• Est. completion date: December 31, 2024

Study information

• Verified date: February 2024
• Source: Eurofins Genoma
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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).

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 150
• Est. completion date: December 31, 2024
• Est. primary completion date: July 31, 2024
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Female
• Age group: 18 Years to 45 Years

Eligibility

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

Related Conditions & MeSH terms

• Endometriosis

Intervention

Other:
• Observational study
Observational study in different tissues in identifing new genetic markers related to endometriosis disease

Locations

Country	Name	City	State
Italy	Eurofins Genoma	Rome

Sponsors (1)

Lead Sponsor	Collaborator
Eurofins Genoma

Country where clinical trial is conducted

Italy, 

References & Publications (6)

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

Outcome

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