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
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.
- 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
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
- 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