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


  • Study type

  • Study IDs

  • Describes the nature of a clinical study. Types include:

    • Observational study — observes people and measures outcomes without affecting results.
    • Interventional study (clinical trial) — studies new tests, treatments, drugs, surgical procedures or devices.
    • Medical records research — uses historical information collected from medical records of large groups of people to study how diseases progress and which treatments and surgeries work best.
  • Site IRB
    • Jacksonville, Florida: 09-007826
    • Rochester, Minnesota: 09-007826
    NCT ID: NCT01127854
    Sponsor Protocol Number: 09-007826

About this study

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.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. If you need assistance understanding the eligibility criteria, please contact the study team.

See eligibility criteria

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • Cases:
    • Secondary causes of urolithiasis including: Bowel disease, Renal tubular acidosis, hyperparathyroidism

Participating Mayo Clinic locations

Study statuses change often. Please contact us for help.

Mayo Clinic Location Status Contact

Jacksonville, Fla.

Mayo Clinic principal investigator

William Haley, M.D.

Closed-enrolling by invitation

What is this? (?)
Not open to everyone who meets the eligibility criteria, but only those invited to participate by the study team.

Contact information:

Arta Palaj



Rochester, Minn.

Mayo Clinic principal investigator

William Haley, M.D.

Closed for enrollment

Contact information:

No Contact


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