Clinical trial NCT06339138: Identification of Novel High Quality Methylated DNA Markers in Renal Tumors: Whole Methylome Discovery, Tissue Validation, and Feasibility Testing in Blood and Urine, the INQUIRE Study
Official title: Identification of Novel High Quality Methylated DNA Markers in Renal Tumors: Whole Methylome Discovery, Tissue Validation, and Feasibility Testing in Blood and Urine
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Chromophobe Renal Cell Carcinoma
Clear Cell Papillary Renal Tumor
Clear Cell Renal Cell Carcinoma
Kidney Oncocytoma
Papillary Renal Cell Carcinoma
Urothelial Carcinoma
Lead sponsor: Mayo Clinic
Sponsor class: OTHER
First posted: 2024-04-01
Enrollment: 589
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: OTHER
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with a histological diagnosis of primary clear cell RCC, papillary cell RCC, clear cell papillary RCC, chromophobe RCC, oncocytoma, urothelial cell carcinoma, or healthy participants who have undergone negative hematuria workups

Brief summary: This study is being done to collect blood, tissue and urine samples to identify a novel high quality methylated DNA marker in patients with renal tumors.

Detailed description: PRIMARY OBJECTIVES:

I. In tissue, to discover and validate DNA methylation markers (MDMs) for detection of malignant renal and urothelial tumors.

II. In blood, to assess the accuracy of candidate MDMs from above for detection of malignant renal and urothelial tumors.

OUTLINE: This is an observational study.

Participants may undergo blood, urine, and tissue sample collection on study. Participants' medical records are also reviewed.

Eligibility criteria: Inclusion Criteria:

* CASE TISSUE:

  * Patient has a histological diagnosis of primary clear cell RCC, papillary cell RCC, clear cell papillary RCC, chromophobe RCC, oncocytoma, or urothelial cell carcinoma
  * Age \>= 18 years
* CASE BLOODS AND URINE:

  * Patient has a histological diagnosis of primary clear cell RCC, papillary cell RCC, chromophobe RCC, oncocytoma, or urothelial cell carcinoma
  * Age \>= 18 years
* HEALTHY CONTROL BLOODS AND URINE:

  * Patients has undergone negative hematuria workups (defined as negative abdominal imaging and negative cystoscopy
  * Age \>= 18 years

Exclusion Criteria:

* CASE TISSUE:

  * Patient has von Hippel-Lindau disease (VHL), Hereditary leiomyomatosis and renal cell cancer (HLRCC), Hereditary papillary renal carcinoma (HPRC), or Birt-Hogg-Dube syndrome (BHD)
  * The current target pathology is a recurrence
  * Patient has undergone any prior radiation therapy to target lesion prior to surgery
  * Patient has received chemotherapy class drugs in the 5 years prior to surgery
  * Patient has had any transplants prior to surgery
  * Patient has confirmation of Lynch Syndrome, is presumed to have Lynch Syndrome, or has familial cancer syndrome X
  * Patient has Nephritis (Glomerulus or Interstitial), Poly Cystic Kidney Disease, Glomerulonephropathies or Acquired Renal Kidney Disease
* RENAL CONTROL TISSUE:

  * Patient has von Hippel-Lindau disease (VHL), Hereditary leiomyomatosis and renal cell cancer (HLRCC), Hereditary papillary renal carcinoma (HPRC), or Birt-Hogg-Dube syndrome (BHD).
  * Patient has inflammation, atypia, or hyperplasia of the parenchyma
  * Patient has a current or past history of renal cancer.
  * Patient has undergone any prior radiation therapy to target lesion prior to surgery
  * Patient has received chemotherapy class drugs in the 5 years prior to surgery
  * Patient has had any transplants prior to surgery
  * Patient has confirmation of Lynch Syndrome, is presumed to have Lynch Syndrome, or has familial cancer syndrome X
  * Patient has Nephritis (Glomerulus or Interstitial), Poly Cystic Kidney Disease, Glomerulonephropathies or Acquired Renal Kidney Disease
* UROTHELIEAL CONTROL TISSUE:

  * Patient has von Hippel-Lindau disease (VHL), Hereditary leiomyomatosis and renal cell cancer (HLRCC), Hereditary papillary renal carcinoma (HPRC), or Birt-Hogg-Dubé syndrome (BHD)
  * Patient has inflammation, atypia, or hyperplasia of the urothelium
  * Patient has a current or past history of urothelial cancer
  * Patient has undergone any prior radiation therapy to target lesion prior to surgery
  * Patient has received chemotherapy class drugs in the 5 years prior to surgery
  * Patient has had any transplants prior to surgery
  * Patient has confirmed or presumed lynch
* CASE BLOODS AND URINE:

  * Patient has known primary cancer outside of the kidney within the last 5 years prior to plasma and urine collection (not including basal cell or squamous cell skin cancers)
  * Patient has had surgery to completely or partially remove current target pathology
  * Patient has undergone any prior radiation therapy to target lesion prior to plasma and urine collection
  * Patient has received chemotherapy class drugs in the 5 years prior to plasma and urine collection
  * Patient has had any transplants prior to plasma and urine collection
  * Patient has confirmed or presumed lynch
  * Patient has von Hippel-Lindau disease (VHL), Hereditary leiomyomatosis and renal cell cancer (HLRCC), Hereditary papillary renal carcinoma (HPRC), or Birt-Hogg-Dubé syndrome (BHD)
* HEALTHY CONTROL BLOODS AND URINE:

  * Patient has known primary cancer outside of the urothelium within the last 5 years prior to plasma and urine collection (not including basal cell or squamous cell skin cancers)
  * Current target pathology is a recurrence
  * Patient has undergone prior radiation therapy in the 5 years prior to plasma and urine collection
  * Patient has received chemotherapy class drugs in the 5 years prior to plasma and urine collection
  * Patient has had any transplants prior to plasma and urine collection
  * Patient has von Hippel-Lindau disease (VHL), Hereditary leiomyomatosis and renal cell cancer (HLRCC), Hereditary papillary renal carcinoma (HPRC), or Birt-Hogg-Dube syndrome (BHD)
  * Patient has confirmed or presumed lynch
  * Gross urinary incontinence
  * Patient has undergone cystectomy

Primary outcomes:
measure: Identify novel methylated DNA markers in tissue for malignant renal and urothelial tumors
timeFrame: Baseline (at enrollment)
Secondary outcomes:
Other outcomes:
Locations:
city: Rochester
country: United States
facility: Mayo Clinic in Rochester
state: Minnesota
Study officials:
affiliation: Mayo Clinic in Rochester
name: John C. Cheville, M.D.
role: PRINCIPAL_INVESTIGATOR
References: