Health Trials

Lynch Syndrome X-Talk of Enteral Mucosa With Immune System

ConditionsLynch 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
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorSan Raffaele University

About this trial

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

Qualifiers

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

Disqualifiers

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

Trial design

Treatments tested in this trial

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

Treatment groups

300 Participants
are divided into 14 treatment groups

14

Treatment groups

See each treatment group below.

Sponsors and collaborators

San Raffaele University

Lead sponsor

Source ClinicalTrials.gov