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

Identification of Novel High Quality Methylated DNA Markers in Renal Tumors: Whole Methylome Discovery, Tissue Validation, and Feasibility Testing in Blood and Urine

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.

Study Overview

• Status: Active, not recruiting
• Conditions: Clear Cell Renal Cell Carcinoma; Urothelial Carcinoma; Chromophobe Renal Cell Carcinoma; Papillary Renal Cell Carcinoma; Kidney Oncocytoma; Clear Cell Papillary Renal Tumor
• Intervention / Treatment: Other: Non-Interventional Study

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.

• Study Type: Observational
• Enrollment (Actual): 589

Contacts and Locations

Study Locations

• United States
  • Minnesota
    • Rochester, Minnesota, United States, 55905
      • Mayo Clinic in Rochester

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• 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

Description

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

• UROTHELIAL 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

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Observational; Participants may undergo blood, urine, and tissue sample collection on study. Participants' medical records are also reviewed.	Other: Non-Interventional Study; Non-interventional study

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Identify novel methylated DNA markers in tissue for malignant renal and urothelial tumors	Assessed by the number of markers identified using unbiased whole methylome sequencing (RRBS). Top candidates will be validated in independent tissue. Potential markers will have relatively low background and a false discovery rate 20%.	Baseline (at enrollment)

Collaborators and Investigators

• Sponsor: Mayo Clinic
• Investigators: Principal Investigator: John B. Kisiel, MD, Mayo Clinic in Rochester

Publications and helpful links

Helpful Links

• Mayo Clinic Clinical Trials

Study record dates

Study Major Dates

• Study Start (Actual): June 27, 2018
• Primary Completion (Estimated): January 31, 2027
• Study Completion (Estimated): January 31, 2027

Study Registration Dates

• First Submitted: March 25, 2024
• First Submitted That Met QC Criteria: March 25, 2024
• First Posted (Actual): April 1, 2024

Study Record Updates

• Last Update Posted (Actual): December 24, 2025
• Last Update Submitted That Met QC Criteria: December 18, 2025
• Last Verified: December 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Urogenital Diseases; Urogenital Neoplasms; Neoplasms by Site; Neoplasms; Male Urogenital Diseases; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms by Histologic Type; Neoplasms, Glandular and Epithelial; Adenocarcinoma; Urologic Neoplasms; Carcinoma; Kidney Neoplasms; Carcinoma, Renal Cell; Carcinoma, Transitional Cell; Oncocytoma, renal
• Other Study ID Numbers: 17-010944 (Other Identifier: Mayo Clinic in Rochester); NCI-2024-00971 (Registry Identifier: CTRP (Clinical Trial Reporting Program))

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No