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RecruitingNCT03305835Updated Apr 13, 2026

Monogenic Kidney Stone - Genetic Testing

An observational study in Rare Kidney Stone Diseases, sponsored by Mayo Clinic. Recruiting at 1 site in United States. Per ClinicalTrials.gov, last updated 2026-04-13.

Sponsored by Mayo Clinic · Observational

Study type
Observational
Model
Cohort
Time perspective
Retrospective
Enrollment
6,000
Sex
All
01

Study 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.

Read the detailed description

Have a blood test (about 2 teaspoons; ½ to 1 teaspoons for children) or buccal cell collection for DNA or RNA isolation • Complete a kidney stone history questionnaire

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.
02

Conditions studied

  • Rare Kidney Stone Diseases

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
03

Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

  • Patients with clinical characteristics suggestive of monogenic stone disease.
  • Family members of patients with clinical characteristics suggestive of monogenic stone disease.

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

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
04

Study design

Observational model
Cohort
Time perspective
Retrospective
Enrollment
6,000 participants (estimated)
Patient registry
No
Biospecimen retention
Samples with dna
05

What researchers measure

Primary outcomes

  1. 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.

    Time frame: 5 years

Secondary outcomes

  1. Genotype markers

    Provide definitive genetic information for research diagnostics by the 90 gene mutation possibly for identification.

    Time frame: 5 years

06

Study locations

1 of 1 sites recruiting
  • Mayo Clinic
    Rochester, Minnesota 55905, United States
    Recruiting
07

References and documents

Individual participant data

Plan to share: No — Using a limited data set, plans to share data in accordance with NIH funding expectations.

08

Registry details

Key details

Study ID
NCT03305835
Lead sponsor
Mayo Clinic
Collaborators
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Responsible party
David J. Sas (Principal Investigator, Mayo Clinic) — Principal investigator
First posted
Oct 10, 2017
Start date
Sep 11, 2017
Primary completion
Feb 2028 (estimated)
Completion
Feb 2028 (estimated)
Last update
Apr 13, 2026

Study contacts

RKSC Study Coordinators
Contact
RareKidneyStones@mayo.edu
800-270-4637
David Sas, DO
principal investigator · Mayo Clinic

Oversight

Data monitoring committee
Yes
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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