Rare Kidney Stone Consortium Biobank

Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network

This study is being done to obtain samples from patients with primary hyperoxaluria, cystinuria, adenine phosphoribosyl transferase (APRT) deficiency, and Dent disease, and from their family members, for use in future research.

Study Overview

• Status: Recruiting
• Conditions: Cystinuria; Primary Hyperoxaluria; Dent Disease; APRT Deficiency

Detailed Description

Biologic samples will be stored in the biobank from well characterized patients with primary hyperoxaluria, cystinuria, APRT deficiency, and Dent disease, and from their family members, for use in future research. This will help to advance our understanding of disease expression and the factors associated with kidney injury in these four diseases with the overall goal of developing new treatments to preserve kidney function and reduce nephrocalcinosis and stone formation.

• Study Type: Observational
• Enrollment (Estimated): 2000

Contacts and Locations

• Study Contact: Name: Barb M Seide; Phone Number: 507-255-0387; Email: seide.barbara@mayo.edu
• Study Contact Backup: Name: Leah M Knoke; Phone Number: 507-293-0467; Email: knoke.leah@mayo.edu

Study Locations

• United States
  • Minnesota
    • Rochester, Minnesota, United States, 55905
      • Recruiting
      • Mayo Clinic
      • Contact: Barbara M Seide; Phone Number: 507-255-0387; Email: seide.barbara@mayo.edu
      • Principal Investigator: John C Lieske, M.D.
      • Contact: Leah Knoke; Phone Number: 507-293-0467; Email: knoke.leah@mayo.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Individuals with a confirmed Diagnosis of Primary Hyperoxaluria, Dent Disease, APRT deficiency or Cystinuria. Family members of individuals with these four diseases.

Description

Inclusion Criteria:

• Diagnosis of primary hyperoxaluria (PH) meeting one or more of the following criteria:

  1. Liver biopsy documenting alanine-glyoxylate aminotransferase (AGT) activity below the normal reference range confirming PH type 1 OR Liver biopsy documenting glyoxylate reductase/hydroxypyruvate reductase (GR/HPR) activity below the normal reference range confirming PH type 2
  2. Molecular genetic analysis (DNA testing) confirming mutations known to cause PH type 1, PH type 2, or PH type 3
  3. Urinary oxalate excretion of greater than 0.8 mmol/1.73 m2/day (>70 mg/1.73 m2/day) in the absence of a identifiable causes of secondary hyperoxaluria, including gastrointestinal disease known to cause enteric hyperoxaluria
  4. A patient in end stage kidney failure, in whom neither a liver biopsy nor mutational analysis are available must have: (a) A plasma oxalate concentration of greater than 60 umol/L and a kidney biopsy confirming extensive oxalate deposits OR (b) Evidence of systemic oxalosis
  5. Participants in the previous protocol "Tissue Bank of Urine, Blood, and Tissue Samples Collected from the Patients with Primary Hyperoxaluria" 'Mayo IRB #' #80-04. They have already consented to bank their samples and that consent will serve to enroll them in this study.

• Diagnosis of Dent disease meeting one or more of the following criteria:

  1. Identified mutation of the gene that encodes for chloride exchange transporter 5 (CLCN5)
  2. Low molecular weight proteinuria and hypercalciuria
  3. Low molecular weight proteinuria and nephrocalcinosis

• Diagnosis of APRT disease meeting one or more of the following criteria:

  1. Suspected dihydroxyadeninuria and absent APRT enzyme activity measured in red blood cells (RBCs).
  2. Homozygosity, or compound heterozygosity, for known disease-causing APRT mutations.
  3. Passage of dihydroxyadenine stones (confirmed with stone analysis).

• Diagnosis of Cystinuria meeting one or more of the following criteria:

  1. Stone analysis demonstrating that the stone contains cystine
  2. Increased urinary cystine excretion (>250 mg/gm creatinine)
• Relative of someone with confirmed primary hyperoxaluria, Dent disease, APRT deficiency (also known as dihydroxyadeninuria), or cystinuria

Exclusion Criteria:

1. Stone formers who do not meet the inclusion criteria for primary hyperoxaluria, cystinuria, Dent disease, or APRT deficiency.
2. Unwilling or unable to provide consent/assent.

Study Plan

How is the study designed?

Number of groups / cohorts

4

Cohorts and Interventions

Group / Cohort
Primary Hyperoxaluria; Diagnosis of Primary Hyperoxaluria, or a family member of someone with this diagnosis.
Dent Disease; Diagnosis of Dent Disease, or a family member of someone with this diagnosis.
Cystinuria; Diagnosis of Cystinuria, or a family member of someone with this diagnosis.
APRT deficiency; Diagnosis of APRT Deficiency, or a family member of someone with this diagnosis.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of samples stored in tissue bank	encourage more research	4 years

Collaborators and Investigators

• Sponsor: Mayo Clinic
• Investigators: Principal Investigator: John C Lieske, M.D., Mayo Clinic

Publications and helpful links

Helpful Links

• Rare Kidney Stone Consortium

Study record dates

Study Major Dates

• Study Start: May 1, 2013
• Primary Completion (Estimated): June 1, 2030
• Study Completion (Estimated): June 1, 2030

Study Registration Dates

• First Submitted: December 30, 2013
• First Submitted That Met QC Criteria: December 31, 2013
• First Posted (Estimated): January 3, 2014

Study Record Updates

• Last Update Posted (Actual): July 22, 2025
• Last Update Submitted That Met QC Criteria: July 18, 2025
• Last Verified: July 1, 2025

More Information

Terms related to this study

• Keywords: Biobank; hyperoxaluria; PH; Cystinuria; Primary Hyperoxaluria Type 1; primary hyperoxaluria; Dent Disease; APRT; Dents; Dent; Dent 1; Dent 2; APRT deficiency; primary oxalosis; Primary Hyperoxaluria Type 2; Primary Hyperoxaluria Type 3
• Additional Relevant MeSH Terms: Urogenital Diseases; Male Urogenital Diseases; Calculi; Pathological Conditions, Anatomical; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urolithiasis; Urinary Calculi; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Genetic Diseases, X-Linked; Carbohydrate Metabolism, Inborn Errors; Renal Tubular Transport, Inborn Errors; Nephrolithiasis; Hyperoxaluria; Renal Aminoacidurias; Kidney Calculi; Dent Disease; Hyperoxaluria, Primary; Cystinuria
• Other Study ID Numbers: 11-005413

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: Biospecimens repository only. No individual data available to share.

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