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Liquid Biopsy Biomarkers for Endoscopic Surveillance in Lynch Syndrome
Sponsor: Fondazione IRCCS Istituto Nazionale dei Tumori, Milano
Summary
Lynch syndrome (LS) is an autosomal dominant hereditary condition that markedly increases the risk of colorectal cancer (CRC) and other malignancies. Standard surveillance relies on colonoscopy every 1-2 years starting at age 20-25 years, an invasive and costly procedure that may become burdensome during lifelong follow-up and may miss interval cancers. This prospective, single-institution, observational study aims to identify minimally invasive plasma, stool, and urine biomarkers that could improve the detection of early colorectal lesions in individuals with LS and help refine surveillance protocols. Biomarker analyses include microsatellite instability (MSI) and MMR-related frameshift mutations in circulating tumor DNA, plasma and stool microRNA profiling, stool microbiome analysis, and exploratory urine cell-free DNA banking. Patients with genetically confirmed LS followed at Fondazione IRCCS Istituto Nazionale dei Tumori will be enrolled and followed for 24 months, undergoing surveillance colonoscopy at baseline, 12 months, and 24 months, with periodic venous blood sampling and stool, urine, and tissue collection according to protocol.
Official title: Minimally Invasive Biomarkers to Improve Endoscopic Cancer Surveillance in Individuals With Lynch Syndrome: a Prospective Institutional Study
Key Details
Gender
All
Age Range
18 Years - Any
Study Type
OBSERVATIONAL
Enrollment
109
Start Date
2023-06-20
Completion Date
2026-06-25
Last Updated
2026-09-24
Healthy Volunteers
No
Conditions
Interventions
Study procedures
1. Standard-of-care surveillance colonoscopy performed according to international guidelines at T0, T1 (12 months), and T2 (24 months), with additional colonoscopies if clinically indicated; 2. Collection of venous blood samples at each visit plus additional blood draws every 3 months, for a total of 12 blood collections per participant over the study. Plasma is isolated for extraction of circulating tumor DNA for MSI analysis by digital PCR and for miRNA analysis; 3. Collection of a urine sample at each visit for future exploratory biomarker analyses; 4. Collection of a stool sample at each visit for miRNA profiling, microbiome analysis, and fecal ctDNA frameshift mutation analysis; 5. Collection of paraffin-embedded biopsy material for possible future immunohistochemical analysis of mismatch repair proteins and/or molecular MSI testing; 6. Clinical evaluation at each scheduled colonoscopy visit and collection of dietary habits using the validated EPIC questionnaire.
Locations (1)
Fondazione IRCCS Istituto Nazionale dei Tumori
Milan, Italy, Italy