Rare Kidney Stone Consortium Biobank

Mayo Clinic

Status: Enrolling

Conditions: APRT Deficiency; Dent Disease; Cystinuria; Primary Hyperoxaluria

Study type: Observational

Funder types: Other

Identifiers

NCT02026388

11-005413

Details and patient eligibility

About

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.

Full 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.

Enrollment: 2,000 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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.

Trial design

2,000 participants in 4 patient groups

Primary Hyperoxaluria

Description:

Diagnosis of Primary Hyperoxaluria, or a family member of someone with this diagnosis.

Dent Disease

Description:

Diagnosis of Dent Disease, or a family member of someone with this diagnosis.

Cystinuria

Description:

Diagnosis of Cystinuria, or a family member of someone with this diagnosis.

APRT deficiency

Description:

Diagnosis of APRT Deficiency, or a family member of someone with this diagnosis.