Genetic testing for rare kidney stone diseases

Characterization of Monogenic Kidney Stone Diseases

This study is trying to find out which genes cause rare kidney stone diseases by testing blood and DNA from people with these conditions and their families.

Quick facts

• Study type: Observational
• Enrollment: 6000 (estimated)
• Sex: All
• Sponsor: Mayo Clinic (other)
• Locations: 1 site (Rochester, Minnesota)
• Trial ID: NCT03305835 on ClinicalTrials.gov

What this trial studies

This observational study aims to identify specific genes and mutations responsible for monogenic kidney stone diseases, particularly focusing on conditions like Primary Hyperoxaluria. Participants will undergo blood tests or buccal cell collection for DNA analysis and complete a kidney stone history questionnaire. Family members may also be involved in urine collection for further genetic insights. The findings could lead to a better understanding of the disease and pave the way for more effective treatments.

Who should consider this trial

Good fit: Ideal candidates include individuals under 18 with a history of kidney stones or nephrocalcinosis, or adults over 18 with similar histories and specific additional criteria.

Not a fit: Patients without a history of kidney stones or related conditions may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to targeted therapies for patients suffering from rare kidney stone diseases.

How similar studies have performed: Other studies have shown promise in genetic testing for kidney stone diseases, indicating a potential for success in this approach.

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

Where this trial is running

Rochester, Minnesota

• Mayo Clinic — Rochester, Minnesota, United States (RECRUITING)

Study contacts

• Principal investigator: David Sas, DO — Mayo Clinic
• Study coordinator: RKSC Study Coordinators

Conditions: Rare Kidney Stone Diseases, Primary Hyperoxaluria, Hyperoxaluria, PH, PH 1, PH 2, PH 3, Dent Disease