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NCT05410977Recruiting

Collecting Blood and Stool Samples to Detect Colorectal Cancer or Advanced Neoplasia in Lynch Syndrome Patients

Mayo Clinic

Start Date

3/30/2022

Completion Date

12/31/2027

Summary

This study collects blood and stool samples from patients with suspected or diagnosed Lynch syndrome to evaluate a deoxyribonucleic acid (DNA) screening technique for the detection of colorectal cancer in Lynch syndrome patients.

Detailed Description

PRIMARY OBJECTIVE: I. To determine the sensitivity and specificity of the multitarget stool DNA (mt-sDNA) 2.0 test, for colorectal neoplasia in patients with Lynch syndrome. SECONDARY OBJECTIVE: I. Develop a biorepository of samples (stool and blood) from patients with Lynch syndrome and early onset colorectal cancer. OUTLINE: Patients undergo collection of blood and stool samples no more than 90 days prior to or between 7-90 days after standard of care colonoscopy or flexible sigmoidoscopy. Patients' medical records are also reviewed.

Eligibility Criteria

Age Range: 18 years to No maximum

Inclusion Criteria: * Patients at least 18 years of age * Individuals diagnosed with Lynch syndrome (mutation in MLH1, MSH2, MSH6, PMS2, EPCAM) or colorectal cancer (CRC) with suspected Lynch syndrome or individuals diagnosed with early onset CRC (\<55 years old) * Colonoscopy/flexible sigmoidoscopy (flex sig) scheduled +/- 90 days from sample collection * Patient has agreed to participate and has signed the study consent form Exclusion Criteria: * Patient has known cancer (stage I-IV) within 5 years prior to current sample collection (not including basal cell or squamous cell skin cancers; if patient has not been seen or if information is not available, the patient is eligible) * Patient has received chemotherapy class drugs for the treatment of cancer in the 5 years prior to current sample collection * Patient has had any abdominal radiation therapy prior to current sample collection * Patient had therapy to the target (non-hyperplastic) lesion with intent to completely remove or debulk the lesion prior to sample collection \[examples include snare polypectomy, endoscopic mucosal resection (EMR), endoscopic submucosal dissection (ESD), surgical resection, trans anal excision\] * Patient has prior diagnosis of non-lynch hereditary colon cancer syndrome \[familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), Peutz-Jeghers syndrome (PJS), juvenile polyposis syndrome (JPS), PTEN, POL\] * ADDITIONAL STOOL EXCLUSIONS: * Bowel prep \<7 days prior to stool collection * Oral or rectal contrast given within 7 days prior to stool collection * Presence of ileostomy * Enteral feeds or total parenteral nutrition (TPN) * Diagnosis of inflammatory bowel disease

Interventions

PROCEDURE

Biospecimen Collection

OTHER

Electronic Health Record Review

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Conditions

Colorectal CarcinomaLynch Syndrome

Locations

Mayo Clinic in Arizona

Scottsdale, Arizona 85259

United States

University of California San Francisco

San Francisco, California 94115

United States

University of Colorado Anschutz Medical Center

Aurora, Colorado 80045

United States

Mayo Clinic in Florida

Jacksonville, Florida 32224

United States

Beth Israel Deaconess Medical Center

Boston, Massachusetts 02215

United States

Dana Farber Cancer Institute

Boston, Massachusetts 02215

United States

Mayo Clinic

Rochester, Minnesota 55905

United States

University of Pennsylvania

Philadelphia, Pennsylvania 19104

United States

University of Washington

Seattle, Washington 98102

United States