NCT06708429 Lynch Syndrome X-Talk of Enteral Mucosa With Immune System
| NCT ID | NCT06708429 |
| Status | Recruiting |
| Phase | — |
| Sponsor | San Raffaele University |
| Condition | Lynch Syndrome |
| Study Type | OBSERVATIONAL |
| Enrollment | 300 participants |
| Start Date | 2023-06-01 |
| Primary Completion | 2033-06-01 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 300 participants in total. It began in 2023-06-01 with a primary completion date of 2033-06-01.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
Lynch syndrome (OMIM #120435) is the most common dominantly inherited colorectal cancer syndrome with an estimated prevalence of 1:270 individuals. It increases the lifetime risk of colorectal and endometrial cancer primarily, but it is associated with a high risk of other cancers (pancreas, stomach, ovarian, central nervous system, skin, among others). It is caused by a germline mutation in one of four DNA mismatch repair genes or a terminal deletion of the MSH2-adjacent gene EpCAM. Despite adherence to cancer surveillance programs, many patients still develop colorectal cancer and endometrial cancer. The Prospective Lynch Syndrome Database (PLSD) suggests that more frequent surveillance intervals do not significantly improve cancer risk reduction. The PLSD also revealed that the incidence of colorectal cancer in MLH1 and MSH2 carriers was even higher than previously expected, reaching as high as 41-36% among MLH1 carriers, regardless of ethnic background. The development of colorectal cancer despite surveillance is an unresolved question. Therefore, there is an unmet need for effective cancer prevention strategies.
Eligibility Criteria
Inclusion Criteria (for participants with Lynch syndrome): * Age ≥18 years * All sexes eligible * Established diagnosis of Lynch syndrome performed as part of clinical practice, with a germline pathogenic/likely pathogenic variant in one of the following genes: MLH1, MSH2, MSH6, PMS2, and EpCAM * Subjects with Lynch syndrome undergoing surveillance gastrointestinal endoscopy and/or surgery according to clinical practice * Fertile patients (both males and females) are eligible * Lactating women are eligible Inclusion Criteria (for participants without Lynch syndrome): * Age ≥18 years * All sexes eligible * Patients with sporadic colorectal lesions, including colorectal cancer and colorectal adenomas * Healthy controls without colorectal cancer or adenomas undergoing lower gastrointestinal endoscopy for abdominal pain * PREMM5 \< 2.5 \[PREMM5 is an online, free-to-use, clinical prediction algorithm that estimates the cumulative probability of an individual carrying a germline mutation in the mismatch repair genes responsible for Lynch syndrome\]. Exclusion Criteria (for participants with or without Lynch syndrome): * Age \< 18 years; * Diseases that are known to predispose to colorectal cancer (personal past or recent history of inflammatory bowel disease); * Patients unable/unwilling to provide consent; * Pregnancy
Contact & Investigator
Giulia Martina Cavestro, MD, PhD
PRINCIPAL INVESTIGATOR
IRCCS San Raffaele Scientific Institute
Frequently Asked Questions
Who can join the NCT06708429 clinical trial?
This trial is open to participants of all sexes, aged 18 Years or older, studying Lynch Syndrome. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06708429 currently recruiting?
Yes, NCT06708429 is actively recruiting participants. Contact the research team at cavestro.giuliamartina@hsr.it for enrollment information.
Where is the NCT06708429 trial being conducted?
This trial is being conducted at Monrovia, United States, Milan, Italy, Milan, Italy, Palermo, Italy and 1 additional location.
Who is sponsoring the NCT06708429 clinical trial?
NCT06708429 is sponsored by San Raffaele University. The principal investigator is Giulia Martina Cavestro, MD, PhD at IRCCS San Raffaele Scientific Institute. The trial plans to enroll 300 participants.