RecruitingNot Applicable

Rare Kidney Stone Consortium Biobank

United States2,000 participantsStarted 2013-05

Plain-language 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.

Who can participate

SexALL

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Inclusion 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.
✓. 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

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.

What they're measuring

Number of samples stored in tissue bank

Timeframe: 4 years

Trial details

NCT IDNCT02026388

SponsorMayo Clinic

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2030-06

Contact for this trial

Barb M Seide

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

View on ClinicalTrials.gov More Primary Hyperoxaluria trials