FITting Non-invasive Tests in Lynch Syndrome Surveillance

NCT06898996 | Recruiting DMC

• 2 other identifiers: IRB23-1133R01CA287257-01
• Study Type: observational
• Target: 400
• Locations: 1 country
• Sites: 3

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.

Conditions

Colorectal Cancer

Keywords

Lynch Syndrome; Colorectal Cancer

Outcome Measures

Primary Outcomes (1)

• Quantitative Measure of specificity

  Measure specificity of Fecal immunochemical test (FIT) in Lynch Syndrome (LS) patients undergoing colonoscopy surveillance

  baseline -12 months

Study Arms (1)

Non-invasive surveillance test

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

Other: Fecal immunochemical test

Interventions

Fecal immunochemical test OTHER

Detects blood in stool

Non-invasive surveillance test

Eligibility Criteria

• Age: 20 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• University of Chicago: lead
• National Cancer Institute (NCI): collaborator
• Columbia University: collaborator
• University of Michigan: collaborator

Study Sites (3)

The University of Chicago Medical Center

Chicago, Illinois, 60639, United States

RECRUITING

University of Michigan

Ann Arbor, Michigan, 48109, United States

RECRUITING

Columbia University

New York, New York, 10032, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood, Urine, and stool samples will be collected

MeSH Terms

Conditions

Colorectal Neoplasms; Colorectal Neoplasms, Hereditary Nonpolyposis

Condition Hierarchy (Ancestors)

Intestinal Neoplasms; Gastrointestinal Neoplasms; Digestive System Neoplasms; Neoplasms by Site; Neoplasms; Digestive System Diseases; Gastrointestinal Diseases; Colonic Diseases; Intestinal Diseases; Rectal Diseases; Neoplastic Syndromes, Hereditary; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Sonia Kupfer, MD

  University of Chicago

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Sonia Kupfer, MD

CONTACT

(773) 834-1438; skupfer@bsd.uchicago.edu

Kristi Kearney, RN

CONTACT

773-834-7414; kkearney@bsd.uchicago.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 20, 2025
• First Posted: March 27, 2025
• Study Start: July 10, 2025
• Primary Completion (Estimated): March 1, 2029
• Study Completion (Estimated): July 1, 2029
• Last Updated: April 16, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (3)