Actively Recruiting
Monogenic Kidney Stone - Genetic Testing
Led by Mayo Clinic · Updated on 2026-04-13
6000
Participants Needed
1
Research Sites
542 weeks
Total Duration
On this page
Sponsors
M
Mayo Clinic
Lead Sponsor
N
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Collaborating Sponsor
AI-Summary
What this Trial Is About
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 determine the characteristics of the stone disease associated with specific genes and mutations. This information may help develop more effective treatments for monogenic kidney stone diseases.
CONDITIONS
Official Title
Monogenic Kidney Stone - Genetic Testing
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients under 18 years with a history of kidney stones or nephrocalcinosis
- Patients 18 years or older with a history of kidney stones or nephrocalcinosis and at least one of the following: family history of stones or unexplained kidney failure, growth retardation, metabolic bone disease, unusual stone composition or urinary crystals, proteinuria, reduced glomerular filtration rate, hypomagnesemia, hypophosphatemia, hypercalcemia, increased oxalate, or renal cysts
- Patients with high clinical suspicion of monogenic kidney stone disease or calcium metabolism disorder
- Patients previously enrolled in Rare Kidney Stone Consortium protocols 6406 or 6403 with consent for genetic research
- Family members of patients who meet the above criteria
You will not qualify if you...
- Stone formers who do not meet clinical suspicion for monogenic kidney stone diseases
- Individuals unwilling or unable to provide consent or assent
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Mayo Clinic
Rochester, Minnesota, United States, 55905
Actively Recruiting
Research Team
R
RKSC Study Coordinators
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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