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

Recruiting

• Conditions: Bladder Cancer

• Registration Number: NCT06878027
• Lead Sponsor: Regina Elena Cancer Institute

Brief Summary

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.

Detailed 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.

Study Timeline

• Study Start: 2024-08-06
• Study First Submitted: 2025-02-12
• Status Verified: 2025-03
• Study First Submitted QC: 2025-03-10
• Last Update Submitted: 2025-03-10
• Study First Posted: 2025-03-14
• Last Update Posted: 2025-03-14
• Primary Completion: 2026-02-06
• Study Completion: 2026-02-06

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 100

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Methylation state	18 months	Measurement of methylation status using the Bladder CARE test (Pangea Laboratory LLC). The test, based on quantitative PCR and evaluation of methylation status in 3 target genes, is performed on a urine sample and has reported high sensitivity (94%) and specificity (93%) values in determining the presence of bladder cancer

Trial Locations

Locations (1)

IRCCS National Cancer Institute "Regina Elena"; 🇮🇹 Rome, Italy