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

Launched by MAYO CLINIC · May 20, 2010

Keywords

ClinConnect Summary

This is an observational genetic study that looks at why some people form calcium oxalate kidney stones. Researchers will test blood DNA and collect health and lifestyle information to see if certain gene changes (like HOGA1 and a few others) are more common in people who have kidney stones without a known cause, compared with people who do not have stones. The goal is to understand how genetics and everyday factors together influence the risk and recurrence of stones, which could someday help with personalized prevention.

If you or your family member is eligible, you would be a adult 18 or older who can travel to Mayo Clinic in Jacksonville, FL. There are two groups: “Cases” with a history of calcium oxalate stones, and “Controls” with no personal history of stones. You would provide a blood sample and answer a questionnaire about family history, lifestyle, and risk factors. People with stones are excluded if their stones have secondary causes (like certain bowel or kidney conditions). The study plans to enroll a large number of participants (about 2,900 in total), but no results are available yet, and this is a genetics research study rather than a treatment trial.

Gender

ALL

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