Lynch SyndromeEC_ItaLynchNCT06501417
EC_ItaLynch: Mainstreaming the Diagnosis of Lynch Syndrome
An observational study of Lynch Syndrome and Endometrial Cancer, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
Trial summary
Lynch syndrome (LS) is the most common cause of hereditary endometrial cancer (EC) and is associated with an increased risk of colorectal (CRC), ovarian, gastric, small bowel and urinary tract cancer. Read more about this study
- Who is it for?
- Ages 18 years and older, women only
- Conditions the study is for
- Lynch Syndrome, Endometrial Cancer
- What is being tested?
- mainstreaming
- How many people
- 600 participants
- Where
- 1 siteItaly
- Study dates
- 1 Aug 2024to 31 Dec 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 years and older
- Women only
- No healthy volunteers
- Adult, Older adult
Study population: popolazione: sesso, anni, che accesso fanno, che patologia hanno..
Who may be able to join
- Histologically confirmed diagnosis of stage I-IV EC with dMMR
- Only for part I presence of Lynch alert.
- Signed Informed consent to participate in the study.
- d. Patient must be ≥18 years
Who cannot join
- Histologically confirmed diagnosis of stage I-IV EC with pMMR.
- Significant psychiatric or clinical impairment compromising consent to the study.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site
Fondazione Policlinico Universitario A. Gemelli IRCCS
Roma, 00168
EMANUELA LUCCI CORDISCO, +390630154606, emanuela.luccicordisco@policlinicogemelli.it
Emanuela Lucci Cordisco, +390630155701, emanuela.luccicordisco@policlinicogemelli.it
About this study
Official title: EC_ItaLynch: Incorporating Lynch Syndrome Genetic Testing in Standard Medical Care of Patients With Endometrial Cancer (Mainstreaming)
Lynch syndrome (LS) is the most common cause of hereditary endometrial cancer (EC) and is associated with an increased risk of colorectal (CRC), ovarian, gastric, small bowel and urinary tract cancer. LS is determined by germline pathogenic variants in the DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, PMS2) or in EPCAM.
Approximately 20-30% of ECs exhibit somatic MMR deficiency (dMMR), and among these patients approximately 10-30% are affected by LS. This estimate suggests that the prevalence of LS among all EC patients is roughly 3-5%. Prior to the introduction of Universal Screening, the diagnostic management of LS was mainly based on Selective Screening, which included clinical criteria based on the evaluation of family and personal history and the clinicopathological features of the tumor (Amsterdam criteria 1990, Bethesda criteria 1997). However, these have been limited in their application to clinical practice due to their complexity and the frequent lack of complete family history data. Therefore, Universal Screening for LS diagnosis by the identification of dMMR in the tumor tissue of all newly diagnosed CRC and EC cases has recently been proposed.
Read more
Universal Screening for LS in tumor tissue includes an immunohistochemistry based (IHC) test to assess loss of MMR protein expression or a polymerase chain reaction (PCR) test for microsatellite instability.
In the traditional diagnostic pathway for LS, genetic counseling and testing are always recommended for EC patients who are found to have loss of expression of any of the proteins encoded by the MSH2, MSH6, or PMS2. In case of MLH1 loss, genetic counseling and genetic testing are recommended for patients without hypermethylation of the MLH1 promoter.
Recent findings suggest that incorporating genetic testing in an oncologist-driven diagnostic algorithm (mainstreaming of genetic testing) could enable increased diagnostic rates, offering the benefits of precision medicine and a streamlined pathway of care to patients and their families.
The study consists of two parts:
- In the first part the aim of the current study is to compare the knowledge, experience and understanding of genetic testing among patients pursuing genetic testing using mainstreaming or standard genetic counseling through modified Modified Royal Marsden Patient Satisfaction Questionnaire.
- If the first aim will be achieved, a second part will be conducted, to evaluate the feasibility of the mainstreaming diagnostic pathway for LS.
- Conditions
- Lynch Syndrome, Endometrial Cancer
- Being tested
- mainstreaming
- Medical subject headings
- Colorectal Neoplasms, Hereditary Nonpolyposis, Endometrial Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
mainstreamingOther
mainstreaming in EC patients
What is being measured
The primary outcome is the main question the study is designed to answer.
Patients satisfaction
The primary endpoint of this study is the rate of patients satisfied with the counseling measured by question n.15 of the Modified Royal Marsden Patient Satisfaction Questionnaire
Measured: 1 year
LS diagnosis
the proportion of LS diagnosis in dMMR EC patients
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Jul 2024
- Study start1 Aug 2024 (estimated)
- Primary completion31 May 2025 (estimated)
- Study completion31 Dec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Lynch SyndromeStudies of the same condition, open and under way.
- More trials run by Fondazione Policlinico Universitario Agostino Gemelli IRCCSThe sponsor's other registered studies.
- 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 600 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Emanuela Lucci Cordisco, Principal investigator, Fondazione Policlinico Universitario Agostino Gemelli IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06501417
- Sponsor's protocol ID
- 6511
- Acronym
- EC_ItaLynch
- Status last verified
- Apr 2024
- First submitted
- 9 Jul 2024
- Last updated
- 15 Jul 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 Jul 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- EC_ItaLynch: Incorporating Lynch Syndrome Genetic Testing in Standard Medical Care of Patients With Endometrial Cancer (Mainstreaming)
- ClinicalTrials.gov ID
- NCT06501417
- Acronym / sponsor ID
- EC_ItaLynch / 6511
- Conditions
- Lynch Syndrome, Endometrial Cancer
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 600 participants (estimated)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Study start
- 1 Aug 2024 (estimated)
- Primary completion
- 31 May 2025 (estimated)
- Study completion
- 31 Dec 2028 (estimated)
- First posted
- 15 Jul 2024 (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.
Lynch syndrome (LS) is the most common cause of hereditary endometrial cancer (EC) and is associated with an increased risk of colorectal (CRC), ovarian, gastric, small bowel and urinary tract cancer. LS is determined by germline pathogenic variants in the DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, PMS2) or in EPCAM.
Approximately 20-30% of ECs exhibit somatic MMR deficiency (dMMR), and among these patients approximately 10-30% are affected by LS. This estimate suggests that the prevalence of LS among all EC patients is roughly 3-5%. Prior to the introduction of Universal Screening, the diagnostic management of LS was mainly based on Selective Screening, which included clinical criteria based on the evaluation of family and personal history and the clinicopathological features of the tumor (Amsterdam criteria 1990, Bethesda criteria 1997). However, these have been limited in their application to clinical practice due to their complexity and the frequent lack of complete family history data. Therefore, Universal Screening for LS diagnosis by the identification of dMMR in the tumor tissue of all newly diagnosed CRC and EC cases has recently been proposed.
Universal Screening for LS in tumor tissue includes an immunohistochemistry based (IHC) test to assess loss of MMR protein expression or a polymerase chain reaction (PCR) test for microsatellite instability.
In the traditional diagnostic pathway for LS, genetic counseling and testing are always recommended for EC patients who are found to have loss of expression of any of the proteins encoded by the MSH2, MSH6, or PMS2. In case of MLH1 loss, genetic counseling and genetic testing are recommended for patients without hypermethylation of the MLH1 promoter.
Recent findings suggest that incorporating genetic testing in an oncologist-driven diagnostic algorithm (mainstreaming of genetic testing) could enable increased diagnostic rates, offering the benefits of precision medicine and a streamlined pathway of care to patients and their families.
The study consists of two parts:
- In the first part the aim of the current study is to compare the knowledge, experience and understanding of genetic testing among patients pursuing genetic testing using mainstreaming or standard genetic counseling through modified Modified Royal Marsden Patient Satisfaction Questionnaire.
- If the first aim will be achieved, a second part will be conducted, to evaluate the feasibility of the mainstreaming diagnostic pathway for LS.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- popolazione: sesso, anni, che accesso fanno, che patologia hanno..
Key inclusion criteria (4 listed)
- Histologically confirmed diagnosis of stage I-IV EC with dMMR
- Only for part I presence of Lynch alert.
- Signed Informed consent to participate in the study.
- d. Patient must be ≥18 years
Key exclusion criteria (2 listed)
- Histologically confirmed diagnosis of stage I-IV EC with pMMR.
- Significant psychiatric or clinical impairment compromising consent to the study.
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 |
|---|---|---|
| mainstreamingmainstreaming in EC patients | Other | – |
Primary outcome
Patients satisfaction
Time frame: 1 year
The primary endpoint of this study is the rate of patients satisfied with the counseling measured by question n.15 of the Modified Royal Marsden Patient Satisfaction Questionnaire
LS diagnosis
Time frame: 3 years
the proportion of LS diagnosis in dMMR EC patients
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Jul 2024.
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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.
Emanuela Lucci Cordisco principal investigator
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
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 Lynch Syndrome and Endometrial Cancer, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS 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 4 inclusion and 2 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: opening soon, as of the sponsor's last update on 15 Jul 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Emanuela Lucci Cordisco, dr (+390630154606, emanuela.luccicordisco@policlinicogemelli.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Patients satisfaction (time frame: 1 year). 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?
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 15 Jul 2024.