Lynch Syndrome X-Talk of Enteral Mucosa With Immune System

NCT06708429 · tracked via the Priya Life Science Italy tracker

Sponsor

San Raffaele University

Phase

Observational

Started

2023-06-01

Last updated

2026-04-24

Condition(s) studied

Lynch SyndromeLynch Syndrome ILynch Syndrome IILynch Syndrome I (Site-specific Colonic Cancer)HNPCCHNPCC Gene MutationHereditary Cancer SyndromeHereditary CancerMLH1 Gene MutationMLH1 Gene Deletion+DuplicationMLH1 Loss of ExpressionMLH1 Gene InactivationMSH2 Gene MutationMSH2 Gene Deletion+DuplicationMSH2 Loss of ExpressionMSH2 Gene InactivationMSH6 Gene MutationMSH6 Loss of ExpressionMSH6 Gene InactivationPMS2 Gene MutationPMS2 Gene InactivationPMS2 Loss of Expression

Investigational drug(s) / intervention(s)

LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)

LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System): A combination of blood-based, mucosal-based, and hair-based analyses that evaluate the presence and the expression of: * a set of microRNAs (blood) * antibodies anti-frame shift peptides (blood) * mucosal-resident bacteria (healthy mucosa and cancer) * environmental exposure to potential carcinogens (hair matrix)

Study 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

Sex

ALL

Min age

18 Years

Max age

—

Healthy volunteers

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

Primary outcome measure(s)

Sensitivity — Through study completion, an average of 1 year
True positive rate: the probability of a positive test result, conditioned on the individual truly being positive

Trial sites (5)

Facility	City	Region	Status
Beckman Research Institute at City of Hope	Monrovia	California	Recruiting
Gastronterology and Gastrointestinal Endoscopy Unit, IRCCS San Raffaele Hospital	Milan	Lombardy	Recruiting
Dipartimento di Chirurgia Oncologica e Dipartimento di Oncologia Sperimentale Istituto Nazionale Tumori	Milan	MI	Recruiting
Dipartimento di controllo qualità e rischio chimico biologico, AOOR Villa Sofia Cervello	Palermo	PM	Recruiting
Chirurgia Generale, Azienda Ospedaliero Universitaria di Cagliari	Cagliari	Italy	Recruiting

More San Raffaele University trials in Italy

Exogenous and Endogenous Risk Factors for Early-onset Colorectal Cancer Recruiting

Videocapsule Endoscopy in Lynch Syndrome Recruiting

Liquid Biopsy and Machine Learning for Early Colorectal Cancer, Adenomas, Lynch Cancers, and Residual Disease Detection Recruiting

Other trials for the same condition

Study Aiming to Test Whether Non-invasive Liquid Biopsies Can Safely Reduce Invasive Surveillance Methods in Lynch Syndrome Starting soon

EC_ItaLynch: Mainstreaming the Diagnosis of Lynch Syndrome Starting soon

Registry of Subjects at Risk of Pancreatic Cancer Recruiting

How Epigenetic Changes in hMLH1 Connect Lab Research With Diagnosis in Gastric Cancer Active, not recruiting

Videocapsule Endoscopy in Lynch Syndrome Recruiting

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06708429 on ClinicalTrials.gov ↗ ← All trials in Italy