Ignite Creation Date:
2026-03-26 @ 3:19 PM
Ignite Modification Date:
2026-03-31 @ 7:21 AM
Study NCT ID:
NCT07424560
Status:
RECRUITING
Last Update Posted:
2026-02-24
First Post:
2026-02-14
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Multiplex Mutation Detection Using Mass Spectrometry in Bladder Cancer
Sponsor:
Zhilong Dong
Organization:
Study Overview
Official Title:
Comprehensive Analysis of the Key Mutation Spectrum in Bladder Cancer: Establishment and Clinical Validation of a Multiplex Mutation Detection System Based on Nucleic Acid Mass Spectrometry
Status:
RECRUITING
Status Verified Date:
2026-02
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Bladder cancer is a highly heterogeneous malignancy characterized by frequent genetic alterations that are closely associated with disease progression, recurrence risk, and treatment response. However, existing mutation detection approaches are often limited by high cost, complex workflows, or insufficient capacity for multiplex and low-frequency mutation analysis, which restricts their routine clinical application. The purpose of this study is to establish and clinically validate a multiplex mutation detection system for bladder cancer based on nucleic acid mass spectrometry. Using fresh tumor tissue and matched adjacent normal tissue samples collected from patients with bladder cancer, a targeted mutation panel comprising key functional mutations with demonstrated clinical relevance will be constructed. The matched normal tissues serve as germline references to enable accurate identification of somatic mutations. The analytical performance of the system, including sensitivity, specificity, and concordance with whole-genome sequencing, will be systematically evaluated. In addition, the clinical utility of the mutation panel in risk stratification and treatment decision support will be explored by comparing its predictive value with established clinical models and guideline-recommended tools. The ultimate goal is to develop a cost-effective, reproducible, and clinically applicable molecular testing strategy that can support precision diagnosis and individualized management of patients with bladder cancer.
Detailed Description:
Bladder cancer is a highly heterogeneous disease with complex genetic mutations that influence tumor behavior, treatment response, and patient outcomes. Current genetic testing methods often face limitations in simultaneously detecting multiple mutations with high sensitivity and low cost. This study aims to develop and clinically validate a novel multiplex mutation detection system for bladder cancer based on nucleic acid mass spectrometry. The study consists of two phases. In the first phase, a standardized detection panel targeting key bladder cancer-related genes and functional mutation sites will be established, selected based on mutation frequency, clinical significance, survival impact, and evidence from authoritative databases such as The Cancer Genome Atlas (TCGA), OncoKB, and ClinVar. The panel covers critical genes, including Fibroblast Growth Factor Receptor 3 (FGFR3), Tumor Protein P53 (TP53), and others involved in tumor progression, therapeutic response, and prognosis. In the second phase, the clinical utility of this system will be validated using 400 freshly collected bladder cancer tissue samples and paired adjacent normal tissue samples. This detection system offers several advantages: 1. High-throughput multiplexing - simultaneous detection of up to 30 mutation sites in a single run; 2. High sensitivity - capable of detecting low-frequency mutations (as low as 0.1% variant allele frequency); 3. Quantitative analysis - provides allele frequency information to assess tumor burden and monitor treatment response; 4. Cost-effectiveness and simplicity - lower cost and simpler workflow compared to next-generation sequencing, making it suitable for clinical implementation. The clinical value of this system will be rigorously evaluated by: 1. Comparing its risk stratification performance with established clinical tools, such as the European Organisation for Research and Treatment of Cancer (EORTC), European Association of Urology (EAU), and Vesical Imaging-Reporting and Data System (VI-RADS); 2. Assessing its treatment predictive value against current standards, such as the Spanish Bladder Cancer Group (CUETO) and immunohistochemical markers; 3. Validating its accuracy against whole-exome sequencing as the gold standard in paired samples of tumor and adjacent normal tissues. By providing a comprehensive, affordable, and clinically actionable mutation profiling tool, this study aims to improve precision risk stratification, guide individualized treatment decisions, and enable dynamic recurrence monitoring for bladder cancer patients. The ultimate goal is to establish a standardized molecular diagnostic framework that can be integrated into routine clinical practice.
Study Oversight
Has Oversight DMC:
True
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?: