Actively Recruiting
Characterization of Monogenic Kidney Stone Diseases
Led by Mayo Clinic · Updated on 2026-04-13
6000
Participants Needed
1
Research Sites
N/A
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
Researchers are studying monogenic kidney stone diseases to identify the specific genes and genetic changes that cause these conditions. The study aims to understand the features of kidney stone disease linked to particular genes and mutations. This knowledge may help in developing better treatments for these rare kidney stone diseases. Participants will provide a blood sample or buccal cell sample for DNA or RNA testing and complete a kidney stone history questionnaire. Family members may also be asked to provide a 24-hour urine collection for additional analysis. Genetic testing will be conducted on these samples, and results will be shared with the participant's local doctor. Samples will be stored for future research, but family members of patients without known mutations will not be tested. During the study, participants provide medical and family history information and biological samples for genetic testing. Researchers will evaluate the symptomatic onset of monogenic stone disease over five years and study genotype markers. Participation involves providing samples and questionnaires, with follow-up over time to better understand the disease. The study is observational, focusing on collecting data rather than testing treatments.
CONDITIONS
Brief 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 over 18 years with a history of kidney stones or nephrocalcinosis plus at least one of these: family history of stones or unexplained kidney failure, growth retardation, metabolic bone disease, unusual stone composition, proteinuria, reduced kidney function, low magnesium or phosphate, high calcium, increased oxalate, or kidney cysts
- Patients with strong suspicion of monogenic kidney stone disease or calcium metabolism disorder
- Patients previously enrolled in certain Rare Kidney Stone Consortium protocols consenting to genetic research
- Family members of patients meeting any of the above criteria
You will not qualify if you...
- Stone formers who do not meet the clinical suspicion criteria for monogenic kidney stone disease
- Individuals unwilling or unable to provide consent or assent
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Single timepoint
Participants provide blood or buccal cell samples for genetic testing and complete a kidney stone history questionnaire. Family members may also provide a 24-hour urine collection depending on eligibility.
1 visit (in-person)
Duration - 5 years
Participants are observed for symptomatic onset of monogenic stone disease and changes in genotype markers over a period of 5 years.
Periodic assessments as per routine clinical care
Trial Site Locations
Total: 1 location
1
Mayo Clinic
Rochester, Minnesota, United States, 55905
Actively Recruiting
Research Team
R
RKSC Study Coordinators
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
Frequently Asked Questions
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