Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
RECRUITING
6000 participants
OBSERVATIONAL
2017-09-11
2028-02-29
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
Related Clinical Trials
Explore similar clinical trials based on study characteristics and research focus.
Pilot Study to Evaluate the Contribution of Gene Variants to Idiopathic Urolithiasis
NCT01127854
Genetic Study of Nephrolithiasis in Gouty Diathesis
NCT00149305
Primary Hyperoxaluria Mutation Genotyping
NCT00589225
The Genetics of Kidneys in Diabetes (GoKinD) Study
NCT00024921
Autosomal Dominant Polycystic Kidney Disease Somatic Mutation Biorepository
NCT03901521
Detailed Description
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
In addition to the above testing, family members may be asked to participate in the following:
• Complete a 24 hr. urine collection Your samples will undergo genetic testing. We will share the results with your local doctor. All family members, of a patient whose genetic testing showed no known mutations, will not be tested. These samples will be stored for future research.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
COHORT
RETROSPECTIVE
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
1. Patients \<18yrs with a history of kidney stones, and/or nephrocalcinosis, OR
2. Patients \>18yrs with a history of kidney stones, and/or nephrocalcinosis and at least one of the following:
1. Family history of stones or nephrocalcinosis or unexplained kidney failure
2. Growth retardation
3. Metabolic bone disease
4. Unusual stone composition or pathologic or urinary crystals
5. Proteinuria
6. Reduced glomerular filtration rate (GFR)
7. Hypomagnesemia or hypophosphatemia or hypercalcemia
8. Increased oxalate
9. Renal cysts, OR
3. Patients with a high clinical suspicion for a monogenic kidney stone disease or a disorder of calcium metabolism OR
4. 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
5. 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
6. Family member of a patient that meets at least one of the above criteria
2. Unwilling or unable to provide consent/assent
ALL
No
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
NIH
Mayo Clinic
OTHER
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
David J. Sas
Principal Investigator
Principal Investigators
Learn about the lead researchers overseeing the trial and their institutional affiliations.
David Sas, DO
Role: PRINCIPAL_INVESTIGATOR
Mayo Clinic
Locations
Explore where the study is taking place and check the recruitment status at each participating site.
Mayo Clinic
Rochester, Minnesota, United States
Countries
Review the countries where the study has at least one active or historical site.
Central Contacts
Reach out to these primary contacts for questions about participation or study logistics.
Facility Contacts
Find local site contact details for specific facilities participating in the trial.
Related Links
Access external resources that provide additional context or updates about the study.
Rare Kidney Stone Consortium
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
17-005513
Identifier Type: -
Identifier Source: org_study_id
More Related Trials
Additional clinical trials that may be relevant based on similarity analysis.