Skip to main content
OpenTrials
Recruiting

NCT Number: NCT03305835

Monogenic Kidney Stone - Genetic Testing

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.

Recruiting

Interested in participating?

Request Info

Key information

Conditions

Rare Kidney Stone Diseases Adenine phosphoribosyltransferase deficiency Carbohydrate Metabolism, Inborn Errors Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cystinuria Dent Disease Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Genetic Diseases, X-Linked Hyperoxaluria Hyperoxaluria, Primary Kidney Diseases Male Urogenital Diseases Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases Renal Aminoacidurias Renal Tubular Transport, Inborn Errors Urogenital Diseases Urologic Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Mayo Clinic

Rochester, Minnesota, 55905, United States

Location status: Recruiting

Location contact

RKSC Study Coordinators

CONTACT

[email protected]

800-270-4637

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Participants meet at least one of the following criteria:

  • Patients <18yrs with a history of kidney stones, and/or nephrocalcinosis, OR
  • Patients >18yrs with a history of kidney stones, and/or nephrocalcinosis and at least one of the following:
  • Family history of stones or nephrocalcinosis or unexplained kidney failure
  • Growth retardation
  • Metabolic bone disease
  • Unusual stone composition or pathologic or urinary crystals
  • Proteinuria
  • Reduced glomerular filtration rate (GFR)
  • Hypomagnesemia or hypophosphatemia or hypercalcemia
  • Increased oxalate
  • Renal cysts, OR
  • Patients with a high clinical suspicion for a monogenic kidney stone disease or a disorder of calcium metabolism OR
  • 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
  • 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
  • Family member of a patient that meets at least one of the above criteria

Exclusion criteria

  • Stone formers who do not meet the inclusion criteria for clinical suspicion of one of the monogenic kidney stone diseases
  • Unwilling or unable to provide consent/assent

Treatment and study plan

Primary outcomes

  1. symptomatic onset of monogenic stone disease

    Time frame: 5 years

    To identify and define the etiology of monogenic diseases causing nephrolithiasis and nephrocalcinosis by the 90 gene mutation possibly for identification.

Secondary outcomes

  1. Genotype markers

    Time frame: 5 years

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

Study contacts

Contact information is provided by the study sponsor or research team.

RKSC Study Coordinators

CONTACT

[email protected]

800-270-4637

Sponsors and collaborators

Lead sponsor

Mayo Clinic

Other

Collaborators

  • National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Registry information

Official study title

Characterization of Monogenic Kidney Stone Diseases

Important dates

Study start
2017
Primary completion
2028
Study completion
2028
First posted
Oct 10, 2017
Registry last updated
Apr 13, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.