Monogenic Kidney Stone - Genetic Testing

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.

Study Overview

• Status: Recruiting
• Conditions: Rare Kidney Stone Diseases

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.

• Study Type: Observational
• Enrollment (Estimated): 6000

Contacts and Locations

• Study Contact: Name: RKSC Study Coordinators; Phone Number: 800-270-4637; Email: RareKidneyStones@mayo.edu

Study Locations

• United States
  • Minnesota
    • Rochester, Minnesota, United States, 55905
      • Recruiting
      • Mayo Clinic
      • Contact: RKSC Study Coordinators; Phone Number: 800-270-4637; Email: RareKidneyStones@mayo.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• 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.

Description

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 Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
Genotype markers	Provide definitive genetic information for research diagnostics by the 90 gene mutation possibly for identification.	5 years

Collaborators and Investigators

• Sponsor: Mayo Clinic
• Collaborators: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
• Investigators: Principal Investigator: David Sas, DO, Mayo Clinic

Publications and helpful links

Helpful Links

• Rare Kidney Stone Consortium

Study record dates

Study Major Dates

• Study Start (Actual): September 11, 2017
• Primary Completion (Estimated): February 1, 2028
• Study Completion (Estimated): February 1, 2028

Study Registration Dates

• First Submitted: October 5, 2017
• First Submitted That Met QC Criteria: October 5, 2017
• First Posted (Actual): October 10, 2017

Study Record Updates

• Last Update Posted (Actual): April 13, 2026
• Last Update Submitted That Met QC Criteria: April 9, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Keywords: PH; Cystinuria; Hyperoxaluria; CYP24A1; Dent Disease; Dent 1; Dent 2; Primary Hyperoxaluria (PH); PH 1; PH 2; PH 3; APRT Deficiency; 24-Hydroxylase Deficiency
• Additional Relevant MeSH Terms: Urogenital Diseases; Male Urogenital Diseases; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Genetic Diseases, X-Linked; Carbohydrate Metabolism, Inborn Errors; Renal Tubular Transport, Inborn Errors; Renal Aminoacidurias; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Dent Disease; Hyperoxaluria, Primary; Cystinuria; Adenine phosphoribosyltransferase deficiency; Hyperoxaluria
• Other Study ID Numbers: 17-005513; U54DK083908 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: Using a limited data set, plans to share data in accordance with NIH funding expectations.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No