Clinical trial · Observational
Validation of a Circulating Tumor DNA Blood Test in Muscle-Invasive Bladder and Upper Tract Urothelial Cancer
Internal Validation of Circulating Tumor DNA (ctDNA) Sequencing in Muscle-Invasive Bladder Cancer and Upper Tract Urothelial Carcinoma: A Prospective Observational Study
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
This prospective observational study evaluates a blood-based circulating tumor DNA (ctDNA) test in patients with muscle-invasive bladder cancer or upper tract urothelial cancer. ctDNA consists of small fragments of tumor DNA that can sometimes be detected in the blood. In this study, DNA from tumor tissue obtained during routine diagnostic or surgical procedures will be analyzed to identify tumor-specific mutations. Blood samples collected during routine clinical care will then be tested to determine whether the same mutations can be detected in plasma ctDNA. The main purpose is to assess how well the internally developed ctDNA assay detects tumor-specific mutations compared with tumor tissue sequencing. The study will also explore whether ctDNA results after treatment are associated with recurrence or remission during two years of follow-up, and whether changes in ctDNA levels during treatment are associated with pathological response. This study does not assign participants to a treatment and does not require additional blood draws beyond routine care. Treating physicians will remain blinded to ctDNA results during the study, so the test results will not influence clinical decisions.
Conditions
Conditions (3)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Muscle-Invasive Bladder Cancer (MIBC) | Transitional Cell Carcinoma | PROBABILISTIC | 0.70 |
| Upper Tract Urothelial Carcinoma | Renal Pelvis and Ureter Carcinoma | CURATED_BROADER | 0.80 |
| Urothelial Carcinoma (UC) | Urothelial Carcinoma | ONTOLOGY_EXACT | 0.85 |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (0)
[]Primary outcomes (1)
- measure
- Diagnostic Performance of Plasma ctDNA for Detecting Tumor-Specific Mutations
- timeFrame
- From enrollment until completion of tumor tissue sequencing and matched plasma ctDNA analysis, up to 6 months
- description
- Concordance between tumor-specific somatic mutations identified in tumor tissue and the same mutations detected in matched plasma-derived ctDNA. Diagnostic performance of the internally developed ctDNA assay will be assessed using sensitivity, specificity, positive predictive value, and negative predictive value, with tumor tissue sequencing as the reference standard.
Secondary outcomes (5)
- measure
- Association Between Post-Treatment ctDNA Positivity and Disease Recurrence or Progression
- timeFrame
- Up to 2 years after surgery or radiotherapy
- description
- Association between ctDNA positivity after surgery or radiotherapy, with or without neoadjuvant or adjuvant systemic treatment, and disease recurrence or progression during the first two years of follow-up.
- measure
- Association Between Post-Treatment ctDNA Negativity and Disease Remission
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
Show eligibility criteria text
Inclusion Criteria: * Age 18 years or older. * Histologically confirmed muscle-invasive bladder cancer or suspected muscle-invasive upper tract urothelial carcinoma, stage T2 or higher. * Availability of tumor tissue from transurethral resection of bladder tumor, ureteroscopic biopsy, biopsy of a metastatic lesion, or nephroureterectomy for DNA extraction. * Written informed consent provided. Exclusion Criteria: \- Concurrent active malignancy diagnosed within the past 5 years.
References
Publications (5)
- BACKGROUNDCarrasco R, Ingelmo-Torres M, Gomez A, Trullas R, Roldan FL, Ajami T, Moreno D, Rodriguez-Carunchio L, Alcaraz A, Izquierdo L, Mengual L. Cell-Free DNA as a Prognostic Biomarker for Monitoring Muscle-Invasive Bladder Cancer. Int J Mol Sci. 2022 Oct 3;23(19):11732. doi: 10.3390/ijms231911732. PMID 36233035
- BACKGROUNDLindskrog SV, Birkenkamp-Demtroder K, Nordentoft I, Laliotis G, Lamy P, Christensen E, Renner D, Andreasen TG, Lange N, Sharma S, ElNaggar AC, Liu MC, Sethi H, Aleshin A, Agerbaek M, Jensen JB, Dyrskjot L. Circulating Tumor DNA Analysis in Advanced Urothelial Carcinoma: Insights from Biological Analysis and Extended Clinical Follow-up. Clin Cancer Res. 2023 Dec 1;29(23):4797-4807. doi: 10.1158/1078-0432.CCR-23-1860. PMID 37782315
- BACKGROUNDNordentoft I, Lindskrog SV, Birkenkamp-Demtroder K, Gonzalez S, Kuzman M, Levatic J, Glavas D, Ptashkin R, Smadbeck J, Afterman D, Lauterman T, Cohen Y, Donenhirsh Z, Tavassoly I, Alon U, Frydendahl A, Rasmussen MH, Andersen CL, Lamy P, Knudsen M, Polak P, Zviran A, Oklander B, Agerbaek M, Jensen JB, Dyrskjot L. Whole-genome Mutational Analysis for Tumor-informed Detection of Circulating Tumor DNA in Patients with Urothelial Carcinoma. Eur Urol. 2024 Oct;86(4):301-311. doi: 10.1016/j.eururo.2024.05.014. Epub 2024 May 29. PMID 38811314
- BACKGROUNDPowles T, Assaf ZJ, Degaonkar V, Grivas P, Hussain M, Oudard S, Gschwend JE, Albers P, Castellano D, Nishiyama H, Daneshmand S, Sharma S, Sethi H, Aleshin A, Shi Y, Davarpanah N, Carter C, Bellmunt J, Mariathasan S. Updated Overall Survival by Circulating Tumor DNA Status from the Phase 3 IMvigor010 Trial: Adjuvant Atezolizumab Versus Observation in Muscle-invasive Urothelial Carcinoma. Eur Urol. 2024 Feb;85(2):114-122. doi: 10.1016/j.eururo.2023.06.007. Epub 2023 Jul 26. PMID 37500339
- BACKGROUNDCrupi E, de Padua TC, Marandino L, Raggi D, Dyrskjot L, Spiess PE, Sonpavde GP, Kamat AM, Necchi A. Circulating tumor DNA as a Predictive and Prognostic Biomarker in the Perioperative Treatment of Muscle-invasive Bladder Cancer: A Systematic Review. Eur Urol Oncol. 2024 Feb;7(1):44-52. doi: 10.1016/j.euo.2023.05.012. Epub 2023 Jun 15.