200 Participants Needed

Urine Tumor DNA Test for Lynch Syndrome

Recruiting at 1 trial location
JN
Overseen ByJussi Nikkola, MD, PhD
Age: 18+
Sex: Any
Trial Phase: Academic
Sponsor: Tampere University Hospital
No Placebo GroupAll trial participants will receive the active study treatment (no placebo)
Approved in 2 JurisdictionsThis treatment is already approved in other countries

Trial Summary

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications.

What data supports the effectiveness of the treatment for Urothelial cancer screening using urine tumor DNA test?

Research shows that a test called UroSEEK, which analyzes DNA from urine, detected 95% of bladder cancer cases when combined with urine cytology. This suggests that using DNA tests on urine can be a powerful tool for detecting urothelial cancer, especially in patients with Lynch syndrome.12345

How is the Urine Tumor DNA Test treatment different from other treatments for Lynch Syndrome-related urothelial cancer?

The Urine Tumor DNA Test is unique because it uses a non-invasive method to detect genetic mutations in urine, making it easier and less uncomfortable for patients compared to traditional invasive procedures. This approach allows for early detection and monitoring of urothelial cancer in patients with Lynch Syndrome by analyzing DNA shed into the urine.12367

What is the purpose of this trial?

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.

Research Team

JN

Jussi Nikkola

Principal Investigator

Tampere University Hospital

Eligibility Criteria

This trial is for individuals with Lynch Syndrome, a genetic condition that increases cancer risk. It's focused on detecting urothelial cancers early, which include bladder and upper urinary tract tumors. Participants should have this inherited syndrome but no current symptoms of urothelial cancer.

Inclusion Criteria

I am between 50 and 75 years old.
Willing and able to provide informed consent
I have been diagnosed with Lynch syndrome.

Exclusion Criteria

I have urothelial carcinoma.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks
1 visit (in-person)

Screening Arm

Invitation to participate in urothelial cancer screening and questionnaires

1 year
Multiple visits (in-person and virtual)

Follow-up

Participants are monitored for safety and effectiveness after screening

10 years
Regular follow-up visits at 2, 5, and 10 years

Treatment Details

Interventions

  • Urothelial cancer screening using urine cytology
  • Urothelial cancer screening using urine tumor DNA test
Trial Overview The study is testing the effectiveness of a new urine tumor DNA test to screen for urothelial cancer in people with Lynch Syndrome. This will be compared to the standard urine cytology method to see if it can better detect cancer early.
Participant Groups
1Treatment groups
Experimental Treatment
Group I: Screening armExperimental Treatment2 Interventions
Invitation to participate in urothelial cancer screening and questionnaires

Urothelial cancer screening using urine tumor DNA test is already approved in European Union, United States for the following indications:

🇪🇺
Approved in European Union as Urine Tumor DNA Test for:
  • Screening for urothelial cancers in individuals with Lynch Syndrome
🇺🇸
Approved in United States as Urine Tumor DNA Test for:
  • Screening for urothelial cancers in individuals with Lynch Syndrome

Find a Clinic Near You

Who Is Running the Clinical Trial?

Tampere University Hospital

Lead Sponsor

Trials
298
Recruited
404,000+

Tampere University

Collaborator

Trials
169
Recruited
2,335,000+

Findings from Research

In a study of 204 asymptomatic patients with Lynch syndrome, screening for urothelial carcinoma using urinalysis did not detect any cases of cancer, despite 9.3% showing microscopic hematuria that led to further evaluations.
Only 2.4% of patients were diagnosed with urothelial cancer during the study period, and all presented with symptoms outside of the screening intervals, suggesting that the current urinalysis-based screening approach may not be effective and could lead to unnecessary follow-up procedures.
Evaluation of Urinalysis-Based Screening for Urothelial Carcinoma in Patients With Lynch Syndrome.Chouhan, H., Abbass, MA., Hrabe, JE., et al.[2021]
In a study of 44 bladder cancer patients, genetic alterations were found in 75% of tumor specimens, indicating a high prevalence of detectable changes associated with the disease.
The research demonstrated that 82% of microsatellite changes in tumors could be identified in urine, serum, and plasma samples, suggesting that these body fluids could serve as noninvasive tools for bladder cancer diagnosis and screening.
A possible noninvasive method for the detection of bladder cancer in patients: microsatellite analysis of free DNA in urine and blood.Utting, M., Werner, W., Müller, G., et al.[2019]
The UroSEEK test, which analyzes DNA from urine, successfully detected bladder cancer in 83% of patients who developed the disease, demonstrating its high efficacy as a non-invasive diagnostic tool.
When combined with traditional cytology, UroSEEK identified 95% of bladder cancer cases, and it was particularly effective in detecting low-grade tumors, where it found 67% of cases compared to none detected by cytology.
Non-invasive detection of urothelial cancer through the analysis of driver gene mutations and aneuploidy.Springer, SU., Chen, CH., Rodriguez Pena, MDC., et al.[2020]

References

Evaluation of Urinalysis-Based Screening for Urothelial Carcinoma in Patients With Lynch Syndrome. [2021]
A possible noninvasive method for the detection of bladder cancer in patients: microsatellite analysis of free DNA in urine and blood. [2019]
Non-invasive detection of urothelial cancer through the analysis of driver gene mutations and aneuploidy. [2020]
Prevalence of Lynch syndrome among patients with upper urinary tract carcinoma in a Japanese hospital-based population. [2020]
Universal Point of Care Testing for Lynch Syndrome in Patients with Upper Tract Urothelial Carcinoma. [2022]
Mutational Analysis in Urinary Cell-Free DNA: KRAS in Colorectal Cancer. [2021]
Upper Tract Urothelial Carcinoma in the Genetically Predisposed Patient: Role of Urinary Markers in Predicting Recurrence. [2020]
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