Who may be eligible for the Monogenic Kidney Stone - Genetic Testing trial?

Inclusion Criteria: Participants meet at least one of the following criteria: 1. 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

ClinicalTrials.gov record NCT03305835

Monogenic Kidney Stone - Genetic Testing

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

Characterization of Monogenic Kidney Stone Diseases

About this page. This page shows the study's official ClinicalTrials.gov record ↗, with added help to make it easier to understand. We explain medical terms, highlight key details in plain language, and suggest questions you may want to ask the study team.

The record is periodically copied from ClinicalTrials.gov and may lag behind changes. AI summaries are checked by software, not a clinician.Read moreShow less

The official record is written by the study sponsor and published on ClinicalTrials.gov. It may not always reflect the latest changes. Before making any decisions, please confirm important information with the study team and your own healthcare team.

Where you see "AI summary", AI was used to create a plain-language explanation and software checked it against the source. It has not been reviewed by a clinician, so it may contain mistakes or leave out important details.

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.

Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.

SexAll

LocationUnited States

AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is a retrospective observational study that collects DNA and clinical information from people with suspected monogenic kidney stone disease and from their family members. Participation involves a blood draw or buccal (cheek) sample and a kidney-stone history questionnaire; family members may be asked for additional samples such as a 24-hour urine. Existing (legacy) samples from prior studies may also be used and all samples can be stored for future research.

What it is studying. Which gene changes (mutations) cause monogenic kidney stone diseases and how specific mutations relate to the clinical features of the disease.

What the researchers hope to learn. Identify genes and mutations that cause monogenic kidney stone diseases; define genotype–phenotype relationships; provide genetic information to support research diagnostics and future studies that could inform treatment development.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

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.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Provide a blood sample (about 2 teaspoons; less for children) or a cheek (buccal) cell sample for DNA/RNA testing and complete a kidney stone history questionnaire. Family members may be asked to provide a 24-hour urine collection. Samples will undergo genetic testing and the results will be shared with your local doctor. Samples may be stored for future research.

How the study is structured. A retrospective observational cohort: researchers analyze DNA from new and existing samples and compare genetic findings with patients' clinical histories of stones and related kidney problems. Family members may provide samples and 24-hour urine collections. Genetic test results and stored samples are used for research and may be shared with the participant's local doctor as noted in the registry.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
Which of the eligibility criteria would need to be checked with tests before I could join?

More on primary hyperoxaluria

Clinical trials13 trials listed for primary hyperoxaluriaEvery trial the registry lists for primary hyperoxaluria, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in primary hyperoxaluria researchLatest monthly update: September 2026. Includes: Early oxalate change. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start: Sep 11, 2017
Primary completion: February 2028 (estimated)
Study completion: February 2028 (estimated)
Target enrollment: 6000 participants (estimated)
Last updated on registry: Apr 13, 2026
Data verified: Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor: Mayo Clinic
Principal investigator: David J. Sas, Principal Investigator
Mayo Clinic
Collaborators: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

RKSC Study Coordinators 📞 800-270-4637 ✉ RareKidneyStones@mayo.edu

Participating sites (1)

Mayo ClinicRecruiting
Rochester, Minnesota, 55905 · United States
- RKSC Study Coordinators · 800-270-4637 · RareKidneyStones@mayo.edu

Terms used on this page · explanations by MedicalUpdates.ai

glomerular filtration rate: A blood-test estimate of how well the kidneys are filtering. Lower numbers mean reduced kidney function; many studies set a minimum value.
inclusion criteria: The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
assent: A child's or dependent adult's agreement to take part, given alongside the formal consent of a parent or legal representative.
Exclusion Criteria: The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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