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Pilot Study to Evaluate the Contribution of Gene Variants to Idiopathic Urolithiasis

NCT01127854 · Status: ENROLLING_BY_INVITATION · Type: OBSERVATIONAL · Enrollment: 2900

Last updated 2026-01-23

No results posted yet for this study

Summary

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.

Conditions

  • Kidney Stones
  • Urolithiasis
  • Calcium Oxalate Urolithiasis

Sponsors & Collaborators

Principal Investigators

  • William E Haley, MD · Mayo Clinic

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2009-12-31
Primary Completion
2027-12-31
Completion
2027-12-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01127854 on ClinicalTrials.gov