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

Regina Elena Cancer Institute

Status: Enrolling

Conditions: Bladder Cancer

Study type: Observational

Funder types: Other

Identifiers

NCT06878027

RS194/IRE/24

Details and patient eligibility

About

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.

Full 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.

Enrollment: 100 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

100 participants in 2 patient groups

Patients suffering from bladder cancer

Description:

Patients with a proven diagnosis of muscle-infiltrating or non-muscle-infiltrating bladder cancer, having performance status (PS) 0-1.

Healthy persons.

Description:

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.