Biobank Protocol, Rare Diseases Clinical Research Network


Rochester, Minn.

Trial status:

Open for Enrollment

Why is this study being done?

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.

Who is eligible to participate?

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.

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