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Scientists hunt for kidney stone genes in 6,000-Person study

NCT ID NCT03305835

Knowledge-focused Sponsor: Mayo Clinic Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study aims to find the specific genes and mutations that cause rare, inherited forms of kidney stone disease. Researchers will analyze DNA from up to 6,000 participants to understand how these genetic changes lead to stones. The goal is to use this knowledge to develop better treatments in the future.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 6,000 people

The number the study aims to enrol. It can still change while the study runs.

Started

Sep 2017

Expected to finish

Feb 2028

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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Conditions

The condition(s) this trial relates to.

adenine phosphoribosyltransferase deficiency cystinuria Dent disease Hyperoxaluria primary hyperoxaluria

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Rare kidney stone diseases

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Mayo Clinic

    RECRUITING

    Rochester, Minnesota, 55905, United States