FITting Non-invasive Tests in Lynch Syndrome Surveillance

FITting Non-invasive Testing Into Lynch Syndrome Colorectal Cancer Surveillance: a Multi-center, Prospective Study

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.

Study Overview

• Status: Recruiting
• Conditions: Colorectal Cancer
• Intervention / Treatment: Other: Fecal immunochemical test

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.

• Study Type: Observational
• Enrollment (Estimated): 400

Contacts and Locations

• Study Contact: Name: Sonia Kupfer, MD; Phone Number: (773) 834-1438; Email: skupfer@bsd.uchicago.edu
• Study Contact Backup: Name: Kristi Kearney, RN; Phone Number: 773-834-7414; Email: kkearney@bsd.uchicago.edu

Study Locations

• United States
  • Illinois
    • Chicago, Illinois, United States, 60639
      • Recruiting
      • The University of Chicago Medical Center
      • Contact: Sonia Kupfer, MD; Phone Number: 773-834-1438; Email: skupfer@bsd.uchicago.edu
  • Michigan
    • Ann Arbor, Michigan, United States, 48109
      • Recruiting
      • University of Michigan
      • Contact: Elena Stoffel, MD; Phone Number: 734-647-7558; Email: estoffel@med.umich.edu
  • New York
    • New York, New York, United States, 10032
      • Recruiting
      • Columbia University
      • Contact: Fay Kastrinos, MD; Phone Number: 212-305-1021; Email: fk18@cumc.columbia.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

People aged 20 - 80 years who have been diagnosed with Lynch syndrome

Description

Inclusion Criteria:

• Have a diagnosis of LS with a confirmed pathogenic variant in MLH1, MSH2, MSH6, PMS2 or EPCAM genes.
• Aged 20 - 80 years (for those with pathogenic variants in MLH1, MSH2, and EPCAM)
• Aged 30 - 80 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).
• Patients with previous colon surgery who still have 20cm or more of colon remaining
• Patients who are diagnosed with advanced neoplasia (e.g., advanced adenomas or cancers) and have NOT had endoscopic or surgical resection
• 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.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Non-invasive surveillance test; Easily accessible, affordable and acceptable tests can be used to triage Lynch syndrome patients to colonoscopy	Other: Fecal immunochemical test; Detects blood in stool

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Quantitative Measure of specificity	Measure specificity of Fecal immunochemical test (FIT) in Lynch Syndrome (LS) patients undergoing colonoscopy surveillance	baseline -12 months

Collaborators and Investigators

• Sponsor: University of Chicago
• Collaborators: National Cancer Institute (NCI); Columbia University; University of Michigan
• Investigators: Principal Investigator: Sonia Kupfer, MD, University of Chicago

Study record dates

Study Major Dates

• Study Start (Actual): July 10, 2025
• Primary Completion (Estimated): March 1, 2029
• Study Completion (Estimated): July 1, 2029

Study Registration Dates

• First Submitted: March 20, 2025
• First Submitted That Met QC Criteria: March 20, 2025
• First Posted (Actual): March 27, 2025

Study Record Updates

• Last Update Posted (Actual): April 16, 2026
• Last Update Submitted That Met QC Criteria: April 13, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Keywords: Colorectal Cancer; Lynch Syndrome
• Additional Relevant MeSH Terms: Neoplasms by Site; Neoplasms; Genetic Diseases, Inborn; Metabolic Diseases; Intestinal Diseases; Gastrointestinal Neoplasms; Digestive System Neoplasms; Digestive System Diseases; Gastrointestinal Diseases; Intestinal Neoplasms; Rectal Diseases; Colonic Diseases; Neoplastic Syndromes, Hereditary; DNA Repair-Deficiency Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Colorectal Neoplasms; Colorectal Neoplasms, Hereditary Nonpolyposis
• Other Study ID Numbers: IRB23-1133; R01CA287257-01 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No