EndometriosisniEndometriosiNCT06100471
Evaluation of Genetic Signature in Endometriosis Disease by Non Invasive Sampling
An observational study of Endometriosis and Hypofertility, run by Eurofins Genoma at 1 site in Italy.
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. Read more about this study
- Who is it for?
- Ages 18 to 45 years, women onlyHealthy volunteers can take part
- Conditions the study is for
- Endometriosis, Hypofertility
- What is being tested?
- Observational study
- How many people
- 150 participants
- Where
- 1 siteItaly
- Study dates
- 1 May 2023to 31 Dec 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 45 years
- Women only
- Healthy volunteers accepted
- Adult
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)
Who may be able to join
- 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
Who cannot join
- Women with ages outside the inclusion range
- Pregnant patient
- Patient with a personal history of cancer
- Patient infected with HIV
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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).
- Conditions
- Endometriosis, Hypofertility
- Being tested
- Observational study
- Keywords
- endo
- Medical subject headings
- Endometriosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Observational studyOther
Observational study in different tissues in identifing new genetic markers related to endometriosis disease
| Study group | Role | What they receive |
|---|---|---|
| case | Patients with endometriotic adnexal pathology Receives: Other: Observational study | |
| control | Patients with non endometriotic adnexal pathology Receives: Other: Observational study | |
| analytical control | Patients with no gynecological pathology, not undergoing surgery Receives: Other: Observational study |
What is being measured
The primary outcome is the main question the study is designed to answer.
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]
Measured: 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]
Measured: 1 month
Secondary outcomes (3)
Tissue validation
Genetic profiling of miRNOME from saliva versus FFPE-tissues
Measured: 2 months
Clinical validation
Correlation of miRNOME signature in saliva among cases, controls and analytical groups
Measured: 4 months
Biomarkers identification
Identification of specific signature related to endometriosis, with at least 2 Log2fold change
Measured: 7 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Oct 2023
- Study start1 May 2023
- Primary completion31 Jul 2024 (estimated)
- Study completion31 Dec 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (6)Papers the sponsor has linked to this study.
- Other trials for EndometriosisStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 150 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Eurofins Genoma
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06100471
- Sponsor's protocol ID
- 01-23
- Acronym
- niEndometriosi
- Status last verified
- Feb 2024
- First submitted
- 13 Oct 2023
- Last updated
- 20 Feb 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
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.
PubMed 36411203Bendifallah 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.
PubMed 35887388Bendifallah 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.
PubMed 35160066Bendifallah 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.
PubMed 35260677Dabi Y, Suisse S, Jornea L, Bouteiller D, Touboul C, Puchar A, Darai E, Bendifallah S. Clues for Improving the Pathophysiology Knowledge for Endometriosis Using Plasma Micro-RNA Expression. Diagnostics (Basel). 2022 Jan 12;12(1):175. doi: 10.3390/diagnostics12010175.
PubMed 35054341Bendifallah 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.
PubMed 35022502
Study at a glance
From the registry record, last updated by the sponsor on 20 Feb 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Genetic Signature in Endometriosis Disease by Non Invasive Sampling
- ClinicalTrials.gov ID
- NCT06100471
- Acronym / sponsor ID
- niEndometriosi / 01-23
- Conditions
- Endometriosis, Hypofertility
- Keywords
- endo
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- Eurofins GenomaIndustry (pharma, biotech, devices)
- Study start
- 1 May 2023 (actual)
- Primary completion
- 31 Jul 2024 (estimated)
- Study completion
- 31 Dec 2024 (estimated)
- First posted
- 25 Oct 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| case | – | Other: Observational studyPatients with endometriotic adnexal pathology |
| control | – | Other: Observational studyPatients with non endometriotic adnexal pathology |
| analytical control | – | Other: Observational studyPatients with no gynecological pathology, not undergoing surgery |
Who may qualify
- Ages
- 18 to 45 years
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Adult
- 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)
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (4 listed)
- Women with ages outside the inclusion range
- Pregnant patient
- Patient with a personal history of cancer
- Patient infected with HIV
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Observational studyObservational study in different tissues in identifing new genetic markers related to endometriosis disease | Other | analytical control, case, control |
Primary outcome
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]
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]
3 secondary outcomes
Tissue validation
Time frame: 2 months
Clinical validation
Time frame: 4 months
Biomarkers identification
Time frame: 7 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Feb 2024.
- Background: PubMed 36411203Dabi 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.
- Background: PubMed 35887388Bendifallah 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.
- Background: PubMed 35160066Bendifallah 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.
- Background: PubMed 35260677Bendifallah 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.
- Background: PubMed 35054341Dabi Y, Suisse S, Jornea L, Bouteiller D, Touboul C, Puchar A, Darai E, Bendifallah S. Clues for Improving the Pathophysiology Knowledge for Endometriosis Using Plasma Micro-RNA Expression. Diagnostics (Basel). 2022 Jan 12;12(1):175. doi: 10.3390/diagnostics12010175.
- Background: PubMed 35022502Bendifallah 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Endometriosis and Hypofertility, run by Eurofins Genoma at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 20 Feb 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Next Generation Sequencing technical validation (time frame: 1 month). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06100471, which also lists 6 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Feb 2024.