Home stool blood test (FIT) versus colonoscopy for people with Lynch syndrome

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

This study will test whether a home stool blood test (FIT) can find colorectal cancer or advanced precancerous lesions as accurately as colonoscopy in people with Lynch syndrome who are due for surveillance.

Quick facts

• Study type: Observational
• Enrollment: 400 (estimated)
• Ages: 20 Years to 80 Years
• Sex: All
• Sponsor: University of Chicago (Academic / other)
• Locations: 3 sites (Chicago, Illinois and 2 other locations)
• Trial ID: NCT06898996 on ClinicalTrials.gov

What this trial studies

This observational study enrolls people with genetically confirmed Lynch syndrome who have an upcoming guideline-recommended surveillance colonoscopy. Participants collect a fecal immunochemical test (FIT) sample before their routine colonoscopy, and researchers compare FIT results to colonoscopy findings to measure sensitivity, specificity, and predictive values. The study also uses participant surveys to document attitudes toward and acceptability of non-invasive testing. Multiple academic centers (University of Chicago, Columbia University, University of Michigan) participate to capture a diverse clinical population.

Who should consider this trial

Good fit: Adults with genetically confirmed Lynch syndrome (pathogenic MLH1, MSH2, MSH6, PMS2, or EPCAM variants) who meet the age ranges for their gene, have at least 20 cm of colon remaining, and have an upcoming routine surveillance colonoscopy are ideal candidates.

Not a fit: People without genetic confirmation of Lynch syndrome, those who have had a subtotal or total colectomy, newly diagnosed patients, or patients already requiring endoscopic or surgical treatment for known lesions are unlikely to benefit.

Why it matters

Potential benefit: If FIT performs well, it could offer a less invasive, lower-cost screening option that improves adherence and may reduce the number of colonoscopies some people with Lynch syndrome need.

How similar studies have performed: FIT is widely used and effective for average-risk colorectal cancer screening, but its accuracy specifically in Lynch syndrome patients has not been well established, making this a relatively novel application.

Eligibility criteria

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.

Where this trial is running

Chicago, Illinois and 2 other locations

• The University of Chicago Medical Center — Chicago, Illinois, United States (Recruiting)
• University of Michigan — Ann Arbor, Michigan, United States (Recruiting)
• Columbia University — New York, New York, United States (Recruiting)

Study contacts

• Principal investigator: Sonia Kupfer, MD — University of Chicago
• Study coordinator: Sonia Kupfer, MD

Conditions Colorectal Cancer; Lynch Syndrome