Rare Kidney Stone Consortium Biobank

NCT02026388 | Recruiting DMC

• 1 other identifier: 11-005413
• Study Type: observational
• Target: 2,000
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Primary Hyperoxaluria; Dent Disease; APRT Deficiency; Cystinuria

Keywords

PH; primary hyperoxaluria; hyperoxaluria; primary oxalosis; Primary Hyperoxaluria Type 1; Primary Hyperoxaluria Type 2; Primary Hyperoxaluria Type 3; Dent; Dents; Dent Disease; Dent 1; Dent 2; Cystinuria; APRT; APRT deficiency; Biobank

Outcome Measures

Primary Outcomes (1)

• Number of samples stored in tissue bank

  encourage more research

  4 years

Study Arms (4)

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.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• Diagnosis of primary hyperoxaluria (PH) meeting one or more of the following criteria:
• 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
• Molecular genetic analysis (DNA testing) confirming mutations known to cause PH type 1, PH type 2, or PH type 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
• 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
• 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:
• Identified mutation of the gene that encodes for chloride exchange transporter 5 (CLCN5)
• Low molecular weight proteinuria and hypercalciuria
• Low molecular weight proteinuria and nephrocalcinosis
• Diagnosis of APRT disease meeting one or more of the following criteria:
• Suspected dihydroxyadeninuria and absent APRT enzyme activity measured in red blood cells (RBCs).
• Homozygosity, or compound heterozygosity, for known disease-causing APRT mutations.
• Passage of dihydroxyadenine stones (confirmed with stone analysis).
• Diagnosis of Cystinuria meeting one or more of the following criteria:

You may not qualify if:

• Unwilling or unable to provide consent/assent.

Sponsors & Collaborators

• Mayo Clinic: lead

Study Sites (1)

Mayo Clinic

Rochester, Minnesota, 55905, United States

RECRUITING

Related Links

• Rare Kidney Stone Consortium

Biospecimen

Retention: SAMPLES WITH DNA

Urine, blood and tissue samples

MeSH Terms

Conditions

Hyperoxaluria, Primary; Dent Disease; Adenine phosphoribosyltransferase deficiency; Cystinuria; Hyperoxaluria; Primary hyperoxaluria type 1; Primary hyperoxaluria type 2

Condition Hierarchy (Ancestors)

Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Renal Tubular Transport, Inborn Errors; Genetic Diseases, X-Linked; Renal Aminoacidurias

Study Officials

• John C Lieske, M.D.

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Barb M Seide

CONTACT

507-255-0387; seide.barbara@mayo.edu

Leah M Knoke

CONTACT

507-293-0467; knoke.leah@mayo.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: December 30, 2013
• First Posted: January 3, 2014
• Study Start: May 1, 2013
• Primary Completion (Estimated): June 1, 2030
• Study Completion (Estimated): June 1, 2030
• Last Updated: July 22, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)