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Recruiting NCT02026388

Rare Kidney Stone Consortium Biobank

— Observational Primary Hyperoxaluria Dent Disease APRT Deficiency Cystinuria

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: Primary Hyperoxaluria, Dent Disease, APRT Deficiency, Cystinuria. Basic parameters: No limits · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network

Overview

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.

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.

Primary outcome measures

  • Number of samples stored in tissue bank [Time frame: 4 years]

Eligibility criteria

Inclusion criteria

  • 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:
  • Stone analysis demonstrating that the stone contains cystine
  • 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

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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

United States · 1 center
  • Mayo Clinic — Rochester

Identifiers

NCT: NCT02026388 · 11-005413

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗