Rare Kidney Stone DiseasesNCT03305835
Monogenic Kidney Stone - Genetic Testing
An observational study of Rare Kidney Stone Diseases, run by Mayo Clinic at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Rare Kidney Stone Diseases
- How many people
- 6,000 participants
- Where
- 1 siteUnited States
- Study dates
- 11 Sep 2017to Feb 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: * Patients with clinical characteristics suggestive of monogenic stone disease. * Family members of patients with clinical characteristics suggestive of monogenic stone disease.
Who may be able to join
- 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
Show all 16Show fewer
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Mayo Clinic
Rochester, Minnesota, 55905
RKSC Study Coordinators, 800-270-4637, RareKidneyStones@mayo.edu
About this study
Official title: 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.
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.
- Conditions
- 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
- Medical subject headings
- Hyperoxaluria, Primary, Hyperoxaluria, Dent Disease, Cystinuria, Adenine phosphoribosyltransferase deficiency
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 5 years
Secondary outcomes (1)
Genotype markers
Provide definitive genetic information for research diagnostics by the 90 gene mutation possibly for identification.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Oct 2017
- Study start11 Sep 2017
- Primary completionFeb 2028 (estimated)
- Study completionFeb 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rare Kidney Stone DiseasesStudies of the same condition, open and under way.
- More trials run by Mayo ClinicThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 6,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, David J. Sas, Mayo Clinic
- Investigators
- David Sas, DO, Principal investigator, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03305835
- Sponsor's protocol ID
- 17-005513
- Other IDs
- U54DK083908
- Status last verified
- Apr 2026
- First submitted
- 5 Oct 2017
- Last updated
- 13 Apr 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Using a limited data set, plans to share data in accordance with NIH funding expectations.
Study at a glance
From the registry record, last updated by the sponsor on 13 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization of Monogenic Kidney Stone Diseases
- ClinicalTrials.gov ID
- NCT03305835
- Acronym / sponsor ID
- 17-005513
- Conditions
- Rare Kidney Stone Diseases
- Keywords
- Primary Hyperoxaluria (PH), Hyperoxaluria, PH, PH 1, PH 2, PH 3, Dent Disease, Dent 1
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 6,000 participants (estimated)
- Lead sponsor
- Mayo ClinicUniversity, hospital or other
- Collaborators
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- Study start
- 11 Sep 2017 (actual)
- Primary completion
- Feb 2028 (estimated)
- Study completion
- Feb 2028 (estimated)
- First posted
- 10 Oct 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- * Patients with clinical characteristics suggestive of monogenic stone disease. * Family members of patients with clinical characteristics suggestive of monogenic stone disease.
Key inclusion criteria (16 listed)
- 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:
- 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
Key exclusion criteria (2 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
1 secondary outcome
Genotype markers
Time frame: 5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Apr 2026.
- Rare Kidney Stone ConsortiumLink provided by the sponsor.
- Individual participant dataSharing planned: No. Using a limited data set, plans to share data in accordance with NIH funding expectations.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
David Sas, DO principal investigator
Mayo Clinic
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rare Kidney Stone Diseases, run by Mayo Clinic at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 16 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 13 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact RKSC Study Coordinators (800-270-4637, RareKidneyStones@mayo.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
symptomatic onset of monogenic stone disease (time frame: 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Apr 2026.