Pilot Study to Evaluate the Contribution of Gene Variants to Idiopathic Urolithiasis
Enrolling by invitation
Conditions studied: Kidney Stones, Urolithiasis, Calcium Oxalate Urolithiasis
In brief
Recent investigations from this group have identified that genetic variants of genes associated with monogenic forms of nephrolithiasis are expressed in idiopathic calcium oxalate kidney stone patients and could influence stone forming risk. Utilizing patient samples from the Mayo Clinic Florida Kidney Stone Registry, we will demonstrate that expression of these heterozygous mutations in idiopathic nephrolithiasis act as genetic modifiers of disease presentation increasing risk of kidney stone formation. Complimented by the analysis of environmental and lifestyle risk factors, these studies will define environmental and genetic susceptibility factors involved in kidney stone formation and reoccurrence.
Key facts
- Study ID
- NCT01127854
- Run by
- Mayo Clinic
- People needed
- 2900
- Starts
- 2009-12-01
- Expected to finish
- 2027-12-01
- Last updated by the study team
- 2026-01-23
Who can join
Age: 18 and older. Sex: any. Healthy volunteers: accepted.
You may qualify if…
- Cases:
- History of calcium oxalate stones
- 18 years of age or older
- Willing to provide a blood sample, and questionnaire
- Controls:
- 18 years of age or older
- No personal history of urolithiasis
- Willing to provide a blood sample and questionnaire
You may not qualify if…
- Cases:
- Secondary causes of urolithiasis including: Bowel disease, Renal tubular acidosis, hyperparathyroidism
Where it is running
- Mayo Clinic — Jacksonville, Florida, United States
Full record on ClinicalTrials.gov
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