Rare Kidney Stone Diseases Clinical Trial
Official title:
Characterization of Monogenic Kidney Stone Diseases
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.
| Status | Recruiting |
| Enrollment | 6000 |
| Est. completion date | February 2028 |
| Est. primary completion date | February 2028 |
| Accepts healthy volunteers | No |
| Gender | All |
| Age group | N/A and older |
| Eligibility | Inclusion Criteria: Participants meet at least one of the following 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 Exclusion Criteria: 1. Stone formers who do not meet the inclusion criteria for clinical suspicion of one of the monogenic kidney stone diseases 2. Unwilling or unable to provide consent/assent |
| Country | Name | City | State |
|---|---|---|---|
| United States | Mayo Clinic | Rochester | Minnesota |
| Lead Sponsor | Collaborator |
|---|---|
| Mayo Clinic | National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) |
United States,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | symptomatic onset of monogenic stone disease | To identify and define the etiology of monogenic diseases causing nephrolithiasis and nephrocalcinosis by the 90 gene mutation possibly for identification. | 5 years | |
| Secondary | Genotype markers | Provide definitive genetic information for research diagnostics by the 90 gene mutation possibly for identification. | 5 years |