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

Part of paid clinical trials in Jacksonville, Florida.

Sponsor
Mayo Clinic
Study ID
NCT01127854
Status
Enrolling By Invitation

Conditions

  • Calcium Oxalate Urolithiasis
  • Kidney Stones
  • Urolithiasis

Eligibility Criteria

Sex
ALL
Age
18 Years - N/A
Healthy Volunteers
Accepted

Study Details

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 Dates

Start date
Dec 31, 2009
Status verified
Jan 2026
Primary completion
Dec 31, 2027
Completion
Dec 31, 2027

Study Design

Enrollment
2,900 participants (estimated)

Arms

  • Arm: Cases
  • Arm: Controls

Primary Outcome Measure

To identify the frequency of known genetic variants associated with monogenic forms of nephrolithiasis within idiopathic stone forming populations and associate their presence with heightened risk. [ Time Frame: December 2018 ]

Locations (1)

FacilityCityStateZIPSite coordinators
Mayo ClinicJacksonvilleFlorida32224-

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By research site
Mayo Clinic· Jacksonville, FL

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