RecruitingNCT02026388

Rare Kidney Stone Consortium Biobank

Rare Kidney Stone Consortium Biobank, Rare Diseases Clinical Research Network


Sponsor

Mayo Clinic

Enrollment

2,000 participants

Start Date

May 1, 2013

Study Type

OBSERVATIONAL

Conditions

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.


Eligibility

Plain Language Summary

Simplified for easier understanding

This study is a biobank (a collection of biological samples and data) for people with rare kidney stone diseases including primary hyperoxaluria (PH), Dent disease, APRT deficiency, and cystinuria. Researchers collect urine, blood, and tissue samples to better understand these conditions and improve future treatments. You may be eligible if: - You have been diagnosed with primary hyperoxaluria (type 1, 2, or 3) confirmed by liver biopsy, genetic testing, or urine/blood tests - You have been diagnosed with Dent disease confirmed by genetic mutation or specific lab results - You have been diagnosed with APRT deficiency confirmed by enzyme activity or genetic testing - You have been diagnosed with cystinuria confirmed by stone analysis or urine test - You are a family member (relative) of someone with any of the above conditions - You were previously enrolled in a related Mayo Clinic study (#80-04) You may NOT be eligible if: - You form kidney stones but do NOT have a confirmed diagnosis of PH, cystinuria, Dent disease, or APRT deficiency - You are unwilling or unable to provide consent Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Locations(1)

Mayo Clinic

Rochester, Minnesota, United States

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NCT02026388


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