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

March 10, 2025 updated by: Regina Elena Cancer Institute

Analysis of Urinary Methylation Patterns Via Liquid Biopsy as a Tool for Early Diagnosis, Non-invasive Monitoring and Prediction of Recurrence Risk in Bladder Cancer

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.

Study Overview

Status

Recruiting

Conditions

Bladder Cancer

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 Type

Observational

Enrollment (Estimated)

100

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Name: Giuseppe Simone, Medical Doctor
Phone Number: +39 0652665005
Email: giuseppe.simone@ifo.it

Study Locations

Italy
- - Rome, Italy, 00144
    - Recruiting
    - IRCCS National Cancer Institute "regina Elena"
    - Contact:
      
      Giuseppe Simone, Medical Doctor
      
      Phone Number: +39 0652665005
      
      Email: giuseppe.simone@ifo.it

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

Adult
Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Patients affected by non-muscle infiltrating bladder cancer

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Number of groups / cohorts

Cohorts and Interventions

Group / Cohort
Patients suffering from bladder cancer Patients with a proven diagnosis of muscle-infiltrating or non-muscle-infiltrating bladder cancer, having performance status (PS) 0-1.
Healthy persons. Healthy persons with no previous or current medical history associated with bladder cancer or diagnostic suspicion associated with cancer, to be used as a relative reference.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Methylation state Time Frame: 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	18 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Regina Elena Cancer Institute

Collaborators

Azienda Ospedaliera Santa Maria Degli Angeli

Istituto per lo Studio, la Prevenzione e la Rete Oncologica

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 6, 2024

Primary Completion (Estimated)

February 6, 2026

Study Completion (Estimated)

February 6, 2026

Study Registration Dates

First Submitted

February 12, 2025

First Submitted That Met QC Criteria

March 10, 2025

First Posted (Actual)

March 25, 2025

Study Record Updates

Last Update Posted (Actual)