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Analysis of Urinary Methylation Patterns Via Liquid Biopsy as an Early Diagnosis Tool

Analysis of Urinary Methylation Patterns Via Liquid Biopsy as an Early Diagnosis Tool

Recruiting
18 years and older
All
Phase N/A

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Overview

Multicenter, observational, prospective, biological pilot study on liquid biopsy, aimed at investigating methylation profiles in relation to the early diagnosis of bladder cancer, to validate the potential of commercially available tests (e.g. BladderCARE, Bladder EpiCheck), to apply and validate tests based on targeted multi-marker or genome wide analyzes via NGS and to identify methylation profiles as a tool to infer clinical outcome.

Description

The study has the primary objective to investigate the diagnostic capacity of methylation levels in urine samples, furthermore it has the secondary objective of applying an NGS test on the urine sample capable of evaluating the highest methylation levels comprehensive, with better analytical performance than the currently available standard on the market, leveraging targeted sequencing of multiple genes or global analysis of the whole methylome.

To describe the diagnostic performance of the methods in a real-world clinical environment and identify the characteristic methylation profiles capable of stratifying patients with different prognoses, and finally to explore the potential economic impact of applying such tests as tools alternatives to conventional practices.

Eligibility

Inclusion Criteria:

Patient group

  • age ≥ 18 years
  • proven diagnosis of bladder cancer (infiltrating muscle or non-infiltrating muscle)
  • performance status (PS) 0-1
  • ability to follow the procedures established by the study
  • written consent for participation in the study and data processing

group of healthy subjects

  • age ≥ 18 years
  • ability to follow the procedures established by the study
  • written consent for participation in the study and data processing

Exclusion Criteria:

Patient group

  • presence of metastatic bladder cancer
  • lack of autonomy in following the procedures established by the study

group of healthy subjects

  • previous or current clinical history associated with bladder cancer
  • diagnostic suspicion associated with tumor pathologies
  • ongoing or previous systemic oncological treatments
  • presence of inflammatory and/or autoimmune diseases related to particular conditions potentially modifying the methylation profile
  • existing pharmacological treatments (and/or any other type of treatment) that could alter the results of the analyzes conducted for the present study
  • lack of autonomy in following the procedures established by the study

Study details
    Bladder Cancer

NCT06878027

Regina Elena Cancer Institute

15 October 2025

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