Urothelial Cancer Screening in Individuals With Lynch Syndrome Using a Urine Tumor DNA Panel (LS-URO Study)
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Sponsor
- Tampere University Hospital
- Enrollment
- 200
- Locations
- 2
- Primary Endpoint
- Sensitivity and specificity of positive utDNA for urothelial cancer within one year of follow-up
Study Overview
Brief Summary
Lynch syndrome (LS) is an inherited cancer predisposition syndrome caused by pathogenic germline variants in DNA mismatch repair (MMR) genes. New cancer screening and diagnostic tools are urgently needed to identify LS-related cancers early enough for curative treatment. Urothelial cancers (comprising bladder and upper tract urothelial tumors) are the third most common cancer after colorectal and endometrial cancers in individuals with LS. Up to one in four LS individuals will develop urothelial cancer during their lifetime, with the risk varying based on the defective MMR gene. In this clinical trial, we will employ urine tumor DNA (utDNA) to identify asymptomatic urothelial cancers in Lynch syndrome patients, and to investigate the potential benefits of urine tumor DNA based screening in this high-risk population.
Study Design
- Study Type
- Interventional
- Allocation
- Na
- Intervention Model
- Single Group
- Primary Purpose
- Screening
- Masking
- None
Eligibility Criteria
- Ages
- 50 Years to 75 Years (Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- Yes
Inclusion Criteria
- •Willing and able to provide informed consent
- •Diagnosis of Lynch syndrome
- •Age 50 - 75 years at study recruitment
Exclusion Criteria
- •Concurrent urothelial carcinoma
Outcomes
Primary Outcomes
Sensitivity and specificity of positive utDNA for urothelial cancer within one year of follow-up
Time Frame: At 1 years of follow-up
Sensitivity and specificity of positive utDNA for urothelial cancer, using histologically verified cancers detected within 1 year of the utDNA test as ground truth
Secondary Outcomes
- Size of urothelial tumors(At 2, 5 and 10 years of follow-up)
- Sensitivity and specificity of positive utDNA for urothelial cancer within multiple years of follow-up(At 2, 5, and 10 years of follow-up)
- Overall survival(At 5 and 10 years of follow-up)
- Urothelial cancer specific survival(At 3, 5 and 10 years of follow-up)
- Time to metastatic urothelial cancer(At 5 and 10 years of follow-up)
- Time to diagnosis of urothelial cancer(At 2, 5 and 10 years of follow-up)
- Urothelial cancer grade(At 2, 5 and 10 years of follow-up)
- Specificity of positive utDNA for urothelial cancer at the time of testing(After all patients with positive utDNA have been evaluated with cystoscopy and/or imaging)
- Time to diagnosis of muscle invasive or high grade urothelial cancer(At 2, 5 and 10 years of follow-up)
- TNM pathological stage of urothelial cancers(At 2, 5 and 10 years of follow-up)