Actively Recruiting
Rare Kidney Stone Consortium Biobank
Led by Mayo Clinic · Updated on 2025-07-22
2000
Participants Needed
1
Research Sites
891 weeks
Total Duration
On this page
AI-Summary
What this Trial Is 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.
CONDITIONS
Official Title
Rare Kidney Stone Consortium Biobank
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of primary hyperoxaluria meeting one or more of the following: liver biopsy confirming enzyme activity below normal; genetic testing confirming mutations for PH types 1, 2, or 3; urinary oxalate excretion over 0.8 mmol/1.73 m2/day without secondary causes; end stage kidney failure with plasma oxalate over 60 umol/L and kidney biopsy or systemic oxalosis; or prior consent in a related study.
- Diagnosis of Dent disease meeting one or more of the following: identified mutation in CLCN5 gene; low molecular weight proteinuria with hypercalciuria; or low molecular weight proteinuria with nephrocalcinosis.
- Diagnosis of APRT disease meeting one or more of the following: suspected dihydroxyadeninuria with absent APRT enzyme activity in red blood cells; known APRT mutations; or passage of dihydroxyadenine stones confirmed by stone analysis.
- Diagnosis of cystinuria meeting one or more of the following: stone analysis showing cystine content; or increased urinary cystine excretion over 250 mg/g creatinine.
- Being a relative of someone with confirmed primary hyperoxaluria, Dent disease, APRT deficiency, or cystinuria.
You will not qualify if you...
- Stone formers who do not meet the inclusion criteria for primary hyperoxaluria, cystinuria, Dent disease, or APRT deficiency.
- Individuals unwilling or unable to provide consent or assent.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Mayo Clinic
Rochester, Minnesota, United States, 55905
Actively Recruiting
Research Team
B
Barb M Seide
CONTACT
L
Leah M Knoke
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
4
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