Biobank Protocol, Rare Diseases Clinical Research Network

  • Study type:

    Observational What is this?

    Describes the nature of a clinical study. Types include:

    • Observational study — observes people and measures outcomes without affecting results.
    • Interventional study (clinical trial) — studies new tests, treatments, drugs, surgical procedures or devices.
    • Medical records research — uses historical information collected from medical records of large groups of people to study how diseases progress and which treatments and surgeries work best.

Study IDs

  • Site IRB:

    • Rochester, Minnesota: 11-005413
  • NCT ID:

    NCT02026388
  • Sponsor Protocol Number:

    RDCRN 6404

About this study

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.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. If you need assistance understanding the eligibility criteria, please contact the study team.

See eligibility criteria

Inclusion Criteria:

  1. 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.
  2. 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
  3. 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).
  4. 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)
  5. 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.

Participating Mayo Clinic locations

Study statuses change often. Please contact us for help.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Dawn Milliner, M.D.

Open for enrollment

Julie Olson R.N., CCRP

(507)538-5995

Olson.Julie@mayo.edu