Recruiting

Genetic Testing

Sponsor:

Mayo Clinic

Code:

NCT03305835

Conditions

Rare Kidney Stone Diseases

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

Rare Kidney Stone Diseases

Study ID

NCT03305835

Start date

Sep 11, 2017

Status verified date

Apr, 2026

Completion date

Feb, 2028

Anticipated

Primary completion date

Feb, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

6000 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • symptomatic onset of monogenic stone disease [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

RKSC Study Coordinators

800-270-4637RareKidneyStones@mayo.edu

Locations

Mayo Clinic

Recruiting

Rochester, Minnesota, United States, 55905

Contacts

RKSC Study Coordinators

800-270-4637RareKidneyStones@mayo.edu

More Information

Sponsor

Mayo Clinic

Last update posted

Apr 13, 2026

Last verified

Apr, 2026

Keywords

  • Primary Hyperoxaluria (PH)
  • Hyperoxaluria
  • PH
  • PH 1
  • PH 2
  • PH 3
  • Dent Disease
  • Dent 1
  • Dent 2
  • Cystinuria
  • APRT Deficiency
  • 24-Hydroxylase Deficiency
  • CYP24A1

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Mayo Clinic on 2026-04-13.