Übersicht

Eignung

Details zum Design

Arme & Interventionen

Ergebnismessungen

Studienzentren

Quelle: NCT06708429

Rekrutierung

LYNX-EYE: Lynch Syndrome X-Talk of Enteral Mucosa With Immune System

Beobachtungsstudie

Phase nicht angegeben

Beckman Research Institute at City of Hope

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.

Detaillierte Beschreibung anzeigen

Behandlungskategorie

Diagnostischer Test

Erforderliche Mutationen

Keine

Studie gestartet

2023-06-01

Zuletzt vom Sponsor aktualisiert

2024-12-02

Voraussichtlicher Abschluss

2033-06-01

Studienkontakt

Name:Giulia Martina Cavestro, MD, PhD

E-Mail:cavestro.giuliamartina@hsr.it

Telefon:0226436303

Name:Alessandro Mannucci, MD

E-Mail:mannucci.alessandro@hsr.it

Telefon:0226436303

Eignung

Einschlusskriterien

* 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].

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

Ausschlusskriterien

Keine

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Design-Details

ZuteilungN/A

InterventionsmodellN/A

MaskierungN/A

Anzahl der Teilnehmer300

Arme & Interventionen

Arme

Interventionen

Typ: N/A

Beschreibung: A cohort of individuals with a germline pathogenic variant in the MLH1 gene, that confers a diagnosis of Lynch syndrome, who are found to be cancer-free and adenoma-free at the time of colonoscopy evaluation

Interventionen:

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

Ergebnismessungen

Primäre Ergebnismessungen

SensitivityThrough study completion, an average of 1 year

True positive rate: the probability of a positive test result, conditioned on the individual truly being positive

Sekundäre Ergebnismessungen

SpecificityThrough study completion, an average of 1 year

True negative rate: the probability of a negative test result, conditioned on the individual truly being negative

Proportion of correct predictions (true positives and true negatives) among the total number of cases (i.e., accuracy)Through study completion, an average of 1 year

A measure of trueness: proportion of correct predictions (both true positives and true negatives) among the total number of cases examined

Prevalence of anti-frame-shift peptide antibodies positivity in blood sampleThrough study completion, an average of 1 year

The proportion of individuals who have detectable levels of antibodies against frame shift peptides in their blood, conditioned on the individual truly being positive

Tumor microbiome analysisThrough study completion, an average of 1 year

A comprehensive analysis of the tumor microbiome to identify high-risk patients for colorectal cancer onset

Immuno-environmental tumor signatureThrough study completion, an average of 1 year

A comprehensive evaluation of the differential expression of immunosuppressive myeloid-related signatures in colorectal lesions compared to healthy mucosa of patients with Lynch syndrome. A comprehensive evaluation of the differential expression of immunosuppressive myeloid-related signatures in the blood of individuals with Lynch syndrome, with vs. without colorectal cancer

Exposure analysisThrough study completion, an average of 1 year

A comprehensive evaluation of the environmental exposure analysis on the hair matrix of individuals with Lynch syndrome, with vs. without colorectal cancer

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Studienzentren

Diese Studie hat 5 Studienzentren

Beckman Research Institute at City of Hope

Monrovia, California, US

Name:Ajay Goel, PhD

Telefon:AJGOEL@COH.ORG

Rekrutierend

Monrovia, California, 91016 US

Beckman Research Institute at City of Hope

Rekrutierend

Milano, Milano, 20132 IT

IRCCS Ospedale San Raffaele

Rekrutierend

Milan, MI, IT

Dipartimento di Chirurgia Oncologica e Dipartimento di Oncologia Sperimentale Istituto Nazionale Tumori

Rekrutierend

Palermo, PM, IT

Dipartimento di controllo qualità e rischio chimico biologico, AOOR Villa Sofia Cervello

Rekrutierend

Cagliari, IT

Chirurgia Generale, Azienda Ospedaliero Universitaria di Cagliari

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