An observational study in Rare Kidney Stone Diseases, sponsored by Mayo Clinic. Recruiting at 1 site in United States. Per ClinicalTrials.gov, last updated 2026-04-13.
Sponsored by Mayo Clinic · Observational
This study will attempt to identify the specific gene (coded in the DNA) and changes (mutations) within that gene that are the cause of monogenic kidney stone disease. This study will help researchers determine the characteristics of the stone disease associated with specific genes and mutations. This information may help develop more effective treatments for monogenic kidney stone diseases.
Have a blood test (about 2 teaspoons; ½ to 1 teaspoons for children) or buccal cell collection for DNA or RNA isolation • Complete a kidney stone history questionnaire
In addition to the above testing, family members may be asked to participate in the following:
42 studies on the registry are indexed under Hyperoxaluria, Primary; 11 are open to participants now.
This study's planned enrollment of 6,000 is above the median of 730 across 13 observational studies indexed under Hyperoxaluria, Primary.
Browse Hyperoxaluria, Primary studies →Mayo Clinic is the lead sponsor of 3,269 studies on the registry; 672 are open to participants now.
Of its 452 completed or terminated interventional studies of FDA-regulated products, 321 (71%) have results posted.
Counted across the registry records on this site, refreshed daily.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Participants meet at least one of the following criteria:
Patients >18yrs with a history of kidney stones, and/or nephrocalcinosis and at least one of the following:
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
GFR (glomerular filtration rate) is how much blood the kidneys filter each minute. It is usually estimated from a blood test — eGFR, by formulas such as CKD-EPI or MDRD — and some studies ask for it to be measured directly instead. Usually given in mL/min/1.73 m².
Check the method, the units and the minimum the study states. A value of 90 or above is in the normal-or-high range, but kidney damage can show in other tests too.
GFR and eGFR (kidney filtering)
GFR (glomerular filtration rate) is how much blood the kidneys filter each minute. It is usually estimated from a blood test — eGFR, by formulas such as CKD-EPI or MDRD — and some studies ask for it to be measured directly instead. Usually given in mL/min/1.73 m².
Check the method, the units and the minimum the study states. A value of 90 or above is in the normal-or-high range, but kidney damage can show in other tests too.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
symptomatic onset of monogenic stone disease
To identify and define the etiology of monogenic diseases causing nephrolithiasis and nephrocalcinosis by the 90 gene mutation possibly for identification.
Time frame: 5 years
Genotype markers
Provide definitive genetic information for research diagnostics by the 90 gene mutation possibly for identification.
Time frame: 5 years
Plan to share: No — Using a limited data set, plans to share data in accordance with NIH funding expectations.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
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Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.