NCT06708429Recruiting
Lynch Syndrome X-Talk of Enteral Mucosa With Immune System
Impact of Immune-surveillance on the Development of Colorectal Cancer in Patients With Lynch Syndrome
Source: ClinicalTrials.gov · Last updated 24 Apr 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 300 (estimated)
- First submitted
- 25 Nov 2024
- Start date
- 1 Jun 2023
- Primary completion date
- 1 Jun 2033
- Lead sponsor
- San Raffaele University
- Diseases
- Endometrial cancer, Colorectal cancer
- NCT number
- NCT06708429
What you commit to
- Study type: Observational
- Planned participants: 300
- From 1 Jun 2023 to the primary completion date, 1 Jun 2033
- 5 sites in 2 countries
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- Diseases that are known to predispose to colorectal cancer (personal past or recent history of inflammatory bowel disease);
Age
- Age \< 18 years;
Other
- Patients unable/unwilling to provide consent;
- Pregnancy
Who the study is looking for
- 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
- 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 \[PREMM5 is an online, free-to-use, clinical prediction algorithm that estimates the cumulative probability of an individual carrying a germline mutation in the mismatch repair genes responsible for Lynch syndrome\].
Age in the registry: 18 years to - · Sex: All
Sites (5)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Chirurgia Generale, Azienda Ospedaliero Universitaria di Cagliari Coordinator of this site? Confirm its status | Cagliari | Italy | Recruiting |
| Dipartimento di Chirurgia Oncologica e Dipartimento di Oncologia Sperimentale Istituto Nazionale Tumori Coordinator of this site? Confirm its status | Milan | Italy | Recruiting |
| Gastronterology and Gastrointestinal Endoscopy Unit, IRCCS San Raffaele Hospital Coordinator of this site? Confirm its status | Milan | Italy | Recruiting |
| Dipartimento di controllo qualità e rischio chimico biologico, AOOR Villa Sofia Cervello Coordinator of this site? Confirm its status | Palermo | Italy | Recruiting |
| Beckman Research Institute at City of Hope Coordinator of this site? Confirm its status | Monrovia | United States | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.