Diagnostic Evaluation of Urine DNA Methylation/Somatic Mutation Profiling for the Detection of Urothelial Carcinoma

Study Overview
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Brief Summary
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Clinical trial to evaluate the performance characteristics(sensitivity and specificity) of AnchorDx's urine DNA methylation/somatic mutation profiling assay for detecting urothelial carcinoma compared to pathology in patients.

Detailed Description
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This is a prospective study that involves 11 centers in China and 1200 participants. The assay analyzes the DNA methylation/somatic mutation profiles of bladder cancer-specific biomarkers non-invasively using urine specimens collected before invasive diagnosis/treatment. The performance characteristics(sensitivity and specificity) of the assay for detection of urothelial carcinoma is evaluated in comparison to pathology or cystoscopy.

Official Title
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Diagnostic Evaluation of Urine DNA Methylation/Somatic Mutation Profiling for the Detection of Urothelial Carcinoma

Conditions
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Urothelial Carcinoma, Bladder Cancer

Intervention / Treatment
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* Other: Active Comparator: Pathology
* Other: Active Comparator: Clinical Diagnosis
* Other: Active Comparator: Clinical diagnosis
* Other: Genetic test: AnchorDx's urine DNA methylation/somatic mutation profiling assay


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Urothelial carcinoma group: Any male or female patient aged 18 or older. Able to provide urine specimen (100ml for both first void and non-first-void urine) before treatments. Diagnosed with incident or recurrent urothelial carcinoma (including bladder/ureter/renal pelvis) by surgery. interference group: Any male or female patient aged 18 or older. Able to provide urine specimen (100ml for both first void and non-first-void urine) before treatments. Diagnosed with incident or recurrent bladder cancer other than urothelial carcinoma (including bladder squamous cell carcinoma/bladder adenocarcinoma/other bladder-related cancers/prostate cancer/rectal cancer) by surgery. Control group: Any male or female patient aged 18 or older. Able to provide urine specimen (100ml for both first void and non-first-void urine) before treatments. Diagnosed with urinary disease such as Urinary calculi, urinary tract infection (except urinary tuberculosis), benign prostatic hyperplasia, glandular cystitis. All enrollee are able to provide legally effective informed consent. Healthy volunteers group: Any male or female patient aged 18 or older. Able to provide urine specimen (100ml for both first void and non-first-void urine) before physical examination. exclusion criteria: Urothelial carcinoma/Interference group/Control group Has had diagnosed with other cancers. Patients diagnosed with non-urological cancer. Failed to provide a written informed consent. Healthy volunteers group: Volunteers with abnormal test results of urine analysis or urological ultrasound test. Volunteers sceptical of cancers from non-urological origin in a normal results of urine analysis or urological ultrasound. Failed to provide legally effective informed consent.

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Urothelial carcinoma group<br>Subjects who diagnosed with incident or recurrent urothelial carcinoma (including bladder/ureter/renal pelvis) by surgical pathology. | Other: Active Comparator: Pathology<br>* Routine treatment for bladder cancer, and surgical pathology for confirmation of patients with urothelial carcinoma.<br>Other: Genetic test: AnchorDx's urine DNA methylation/somatic mutation profiling assay<br>* A urine-based assay for the detection of urothelial carcinoma using urine DNA methylation/somatic mutation profiling analysis.<br>|
| interference group<br>Subjects who diagnosed with incident or recurrent bladder cancer other than urothelial carcinoma (including bladder squamous cell carcinoma/bladder adenocarcinoma/other bladder-related cancers/prostate cancer/rectal cancer) by surgical pathology. | Other: Active Comparator: Pathology<br>* Routine treatment for bladder cancer, and surgical pathology for confirmation of patients with urothelial carcinoma.<br>Other: Genetic test: AnchorDx's urine DNA methylation/somatic mutation profiling assay<br>* A urine-based assay for the detection of urothelial carcinoma using urine DNA methylation/somatic mutation profiling analysis.<br>|
| Control group<br>Subjects who clinically diagnosed with benign disease of the urinary system, such as Urinary calculi, urinary tract infection (except urinary tuberculosis), benign prostatic hyperplasia, glandular cystitis. | Other: Active Comparator: Clinical Diagnosis<br>* Routine clinical diagnosis and treatment of benign disease of the urinary system<br>Other: Genetic test: AnchorDx's urine DNA methylation/somatic mutation profiling assay<br>* A urine-based assay for the detection of urothelial carcinoma using urine DNA methylation/somatic mutation profiling analysis.<br>|
| Healthy volunteers group<br>Volunteers who have a normal routine urine test / ultrasound examination of the urinary system and do not carry suspected tumors of other organs. | Other: Active Comparator: Clinical diagnosis<br>* Routine urine test and imaging diagnostic techniques, such as B-ultrasound.<br>Other: Genetic test: AnchorDx's urine DNA methylation/somatic mutation profiling assay<br>* A urine-based assay for the detection of urothelial carcinoma using urine DNA methylation/somatic mutation profiling analysis.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Diagnostic Performance for the detection of urothelial carcinoma | The efficacy of the urine DNA methylation/somatic mutation profiling assay for the detection of urothelial carcinoma comparing with pathologic diagnosis, including sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), positive likelihood ratio (+LR), negative likelihood ratio (-LR) and accuracy. | 1 Years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Sensitivity and Specificity in different pathological stages and histologic grades of urothelial carcinoma | Sensitivity and specificity of urine DNA methylation/somatic mutation profiling assay in different pathological stages and histologic grades of urothelial carcinoma. | 1 Years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Bladder Cancer, Urine, DNA methylation, Somatic mutation