NCT03305835 Monogenic Kidney Stone - Genetic Testing
| NCT ID | NCT03305835 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Mayo Clinic |
| Condition | Rare Kidney Stone Diseases |
| Study Type | OBSERVATIONAL |
| Enrollment | 6,000 participants |
| Start Date | 2017-09-11 |
| Primary Completion | 2028-02 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 6,000 participants in total. It began in 2017-09-11 with a primary completion date of 2028-02.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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 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.
Eligibility Criteria
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
Contact & Investigator
David Sas, DO
PRINCIPAL INVESTIGATOR
Mayo Clinic
Frequently Asked Questions
Who can join the NCT03305835 clinical trial?
This trial is open to participants of all sexes, studying Rare Kidney Stone Diseases. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT03305835 currently recruiting?
Yes, NCT03305835 is actively recruiting participants. Contact the research team at RareKidneyStones@mayo.edu for enrollment information.
Where is the NCT03305835 trial being conducted?
This trial is being conducted at Rochester, United States.
Who is sponsoring the NCT03305835 clinical trial?
NCT03305835 is sponsored by Mayo Clinic. The principal investigator is David Sas, DO at Mayo Clinic. The trial plans to enroll 6,000 participants.
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