Status:
RECRUITING
Monogenic Kidney Stone - Genetic Testing
Lead Sponsor:
Mayo Clinic
Collaborating Sponsors:
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Conditions:
Rare Kidney Stone Diseases
Eligibility:
All Genders
Brief Summary
This study will attempt to identify the specific gene (coded in the DNA) and changes (mutations) within that gene that are the cause of monogenic kidney stone disease. This study will help researchers...
Detailed Description
Have a blood test (about 2 teaspoons; ½ to 1 teaspoons for children) or buccal cell collection for DNA or RNA isolation • Complete a kidney stone history questionnaire In addition to the above testin...
Eligibility Criteria
Inclusion
- Participants meet at least one of the following criteria:
- Patients \<18yrs with a history of kidney stones, and/or nephrocalcinosis, OR
- Patients \>18yrs with a history of kidney stones, and/or nephrocalcinosis and at least one of the following:
- Family history of stones or nephrocalcinosis or unexplained kidney failure
- Growth retardation
- Metabolic bone disease
- Unusual stone composition or pathologic or urinary crystals
- Proteinuria
- Reduced glomerular filtration rate (GFR)
- Hypomagnesemia or hypophosphatemia or hypercalcemia
- Increased oxalate
- Renal cysts, OR
- Patients with a high clinical suspicion for a monogenic kidney stone disease or a disorder of calcium metabolism OR
- Patients previously enrolled in the Rare Kidney Stone Consortium 6406 protocol (identified as legacy samples), "Genetic Characterization and Genotype/Phenotype Correlations in Primary Hyperoxaluria." These patients have already consented for their samples to be used in genetic research and that consent will serve to enroll them in this study, OR
- Patients previously enrolled in the Rare Kidney Stone Consortium 6403 protocol (identified as legacy samples), "Screening for Dent Disease Mutations in Patients with Proteinuria or Hypercalciuria and Calcium Urolithiasis." These patients have already consented for their samples to be used in genetic research and that consent will serve to enroll them in this study, OR
- Family member of a patient that meets at least one of the above criteria
Exclusion
- Stone formers who do not meet the inclusion criteria for clinical suspicion of one of the monogenic kidney stone diseases
- Unwilling or unable to provide consent/assent
Key Trial Info
Start Date :
September 11 2017
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
February 1 2028
Estimated Enrollment :
6000 Patients enrolled
Trial Details
Trial ID
NCT03305835
Start Date
September 11 2017
End Date
February 1 2028
Last Update
April 4 2025
Active Locations (1)
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1
Mayo Clinic
Rochester, Minnesota, United States, 55905