Actively Recruiting
Rare Kidney Stone Consortium Biobank for Primary Hyperoxaluria, Dent Disease, Cystinuria, and APRT Deficiency
Led by Mayo Clinic · Updated on 2025-07-22
2000
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are collecting biological samples from patients diagnosed with primary hyperoxaluria, cystinuria, APRT deficiency, and Dent disease, as well as from their family members. The goal is to use these samples in future research to better understand how these rare kidney stone diseases affect the body and to identify factors linked to kidney damage. This research aims to support the development of new treatments to protect kidney function and reduce kidney stones and related complications. Samples will be stored in a biobank from well-characterized patients and their relatives. Participants include those diagnosed with any of the four conditions or family members of someone with these diagnoses. There are no specific treatment interventions; rather, this is an observational study focused on sample collection and storage for future study. Participants will provide biological samples that will be kept in the bank for research purposes. Researchers will track the number of samples stored over time as a primary measurement. No treatments or procedures are administered as part of this study. Participation involves sample donation and providing medical history information, with the study continuing through at least four years of sample collection and storage.
CONDITIONS
Brief Title
Rare Kidney Stone Consortium Biobank
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of primary hyperoxaluria confirmed by liver biopsy, genetic testing, urinary oxalate levels, or end-stage kidney failure with oxalate deposits
- Diagnosis of Dent disease confirmed by gene mutation, low molecular weight proteinuria with hypercalciuria, or nephrocalcinosis
- Diagnosis of APRT deficiency confirmed by enzyme activity test, genetic mutation, or stone analysis
- Diagnosis of cystinuria confirmed by stone analysis or increased urinary cystine excretion
- Being a family member of someone with confirmed primary hyperoxaluria, Dent disease, APRT deficiency, or cystinuria
- Prior consent under a previous related protocol for primary hyperoxaluria patients
You will not qualify if you...
- Having kidney stones but not meeting the inclusion criteria for primary hyperoxaluria, cystinuria, Dent disease, or APRT deficiency
- Being unwilling or unable to provide consent or assent to participate in the study
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 4 years
Participants provide biological samples for storage in the biobank to support future research on kidney stone diseases.
1 to 2 visits depending on diagnosis and family member status
Duration - Up to 4 years
Participants may be observed over time to advance understanding of disease expression and kidney injury factors.
Visits as needed for sample collection and assessments
Trial Site Locations
Total: 1 location
1
Mayo Clinic
Rochester, Minnesota, United States, 55905
Actively Recruiting
Research Team
B
Barb M Seide
L
Leah M Knoke
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
Similar Trials
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here