Clinical trial NCT06898996: FITting Non-invasive Tests in Lynch Syndrome Surveillance
Official title: FITting Non-invasive Testing Into Lynch Syndrome Colorectal Cancer Surveillance: a Multi-center, Prospective Study
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Colorectal Cancer
Keywords: Lynch Syndrome
Colorectal Cancer
Lead sponsor: University of Chicago
Sponsor class: OTHER
Collaborators: name: National Cancer Institute (NCI)
name: Columbia University
name: University of Michigan
First posted: 2025-03-27
Enrollment: 400
Sex: ALL
Minimum age (years): 20
Maximum age (years): 75
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: People aged 20 - 75 years who have been diagnosed with Lynch syndrome

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.

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
* 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.
* Individuals who are pregnant.
* Individuals with inflammatory bowel disease or active malignancy.
* Individuals not willing or able to sign informed consent.

Primary outcomes:
measure: Quantitative Measure of specificity
timeFrame: baseline -12 months
Secondary outcomes:
Other outcomes:
Locations:
city: Ann Arbor
country: United States
facility: University of Michigan
state: Michigan
city: New York
country: United States
facility: Columbia University
state: New York
Study officials:
affiliation: University of Chicago
name: Sonia Kupfer, MD
role: PRINCIPAL_INVESTIGATOR
References: