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

NCT01127854 | Enrolling By Invitation

• 1 other identifier: 09-007826
• Study Type: observational
• Target: 2,900
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

kidney stone; urolithiasis; calcium oxalate kidney stone; calcium oxalate stone; calcium oxalate

Outcome Measures

Primary Outcomes (1)

• 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.

  December 2018

Study Arms (2)

Cases

Controls

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Mayo Clinic in Jacksonville, FL

You may qualify if:

• Cases:
• History of calcium oxalate stones
• years of age or older
• Willing to provide a blood sample, and questionnaire
• Controls:
• 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

Sponsors & Collaborators

• Mayo Clinic: lead

Study Sites (1)

Mayo Clinic

Jacksonville, Florida, 32224, United States

Location

Related Links

• Mayo Clinic Clinical Trials

Biospecimen

Retention: SAMPLES WITH DNA

Blood, Urine and DNA

MeSH Terms

Conditions

Kidney Calculi; Urolithiasis; Nephrolithiasis, Calcium Oxalate

Condition Hierarchy (Ancestors)

Nephrolithiasis; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Urinary Calculi; Male Urogenital Diseases; Calculi; Pathological Conditions, Anatomical; Pathological Conditions, Signs and Symptoms

Study Officials

• William E Haley, MD

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: May 20, 2010
• First Posted: May 21, 2010
• Study Start: December 1, 2009
• Primary Completion (Estimated): December 1, 2027
• Study Completion (Estimated): December 1, 2027
• Last Updated: January 23, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)