FITting Non-invasive Tests in Lynch Syndrome Surveillance

NCT ID: NCT06898996

Last Updated: 2025-09-08

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 400 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2025-07-10
• Study Completion Date: 2029-07-01

Brief Summary

The purpose of this clinical study is to evaluate the accuracy of the fecal immunochemical test (FIT) in comparison to colonoscopy in patients with Lynch Syndrome (LS) who are undergoing colonoscopy surveillance.

Detailed Description

Lynch syndrome (LS), the most common inherited cause of colorectal cancer (CRC) affecting about 1.2 million Americans. Colonoscopy starting early in adulthood and repeated yearly or biennially is the only recommended surveillance strategy which translates into about 25-50 lifetime colonoscopies. This intensive colonoscopy surveillance is not ideal because CRC risk varies widely by LS gene and age, colonoscopies are invasive, costly, and not readily accessible to all patients, and adherence is suboptimal.

This clinical study will examine the performance of the fecal immunochemical test (FIT) in Lynch Syndrome (LS) patients undergoing colonoscopy surveillance. In addition to assessing the characteristics of the FIT test, such as specificity, sensitivity, and both negative and positive predictive values, the study will also explore LS patients' attitudes toward and acceptability of non-invasive testing methods. This comprehensive approach aims to provide insights into both the diagnostic effectiveness of FIT and the potential for improving patient adherence to screening protocols through less invasive options.

Conditions

Colorectal Cancer

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

Non-invasive surveillance test

Easily accessible, affordable and acceptable tests can be used to triage Lynch syndrome patients to colonoscopy

Fecal immunochemical test

Intervention Type: OTHER

Detects blood in stool

Interventions

Fecal immunochemical test

Detects blood in stool

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• Have a diagnosis of LS with a confirmed pathogenic variant in MLH1, MSH2, MSH6, PMS2 or EPCAM genes.
• Aged 20 - 75 years (for those with pathogenic variants in MLH1, MSH2, and EPCAM)
• Aged 30 - 75 years (for those with pathogenic variants in PMS2 or MSH6).
• Have an upcoming standard of care (SOC) colonoscopy appointment in line with standard LS surveillance guidelines (NCCN).
• Willing to sign informed consent, collect stools samples and complete surveys

Exclusion Criteria

• Individuals who have not proceeded with genetic testing and therefore are not known to have LS, despite family history and/or criteria for testing.
• Individuals who have previously undergone a subtotal or total colectomy.
• Newly diagnosed Lynch Syndrome patients < 20 years old with a pathogenic variant in MLH1, MSH2 or EPCAM, MSH6 or PMS2.
• Newly diagnosed Lynch Syndrome patients < 30 years old with a pathogenic variant in MSH6 or PMS2.
• Individuals who are pregnant.
• Individuals with inflammatory bowel disease or active malignancy.
• Individuals not willing or able to sign informed consent.

• Minimum Eligible Age: 20 Years
• Maximum Eligible Age: 75 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

National Cancer Institute (NCI)

NIH

Sponsor Role: collaborator

Columbia University

OTHER

Sponsor Role: collaborator

University of Michigan

OTHER

Sponsor Role: collaborator

University of Chicago

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Sonia Kupfer, MD

Role: PRINCIPAL_INVESTIGATOR

University of Chicago

Locations

The University of Chicago Medical Center

Chicago, Illinois, United States

Site Status: RECRUITING

University of Michigan

Ann Arbor, Michigan, United States

Site Status: RECRUITING

Columbia University

New York, New York, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Sonia Kupfer, MD

Role: CONTACT

skupfer@bsd.uchicago.edu

(773) 834-1438

Kristi Kearney, RN

Role: CONTACT

kkearney@bsd.uchicago.edu

773-834-7414

Facility Contacts

Sonia Kupfer, MD

Role: primary

skupfer@bsd.uchicago.edu

773-834-1438

Elena Stoffel, MD

Role: primary

estoffel@med.umich.edu

734-647-7558

Fay Kastrinos, MD

Role: primary

fk18@cumc.columbia.edu

212-305-1021

Other Identifiers

R01CA287257-01

Identifier Type: NIH

Identifier Source: secondary_id

View Link

IRB23-1133

Identifier Type: -

Identifier Source: org_study_id