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Kidney stone mystery: why some gene carriers get sick and others stay healthy

NCT ID NCT06283082

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
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 This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 looks at people who carry one copy of a mutated AGXT gene, which is linked to a rare kidney stone disease. Some carriers develop kidney stones, while others do not. Researchers will compare their urine oxalate levels and lifestyle factors to find out what triggers symptoms. The goal is to better understand why the disease appears in some carriers and not others.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this study could help identify why some carriers of an AGXT mutation develop kidney stones, potentially leading to better prevention advice.
What could go wrong
This is a small, observational study with only 25 participants. It does not test a treatment, so it cannot directly lead to a new therapy.

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.

Phase

Not a phased trial

Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.

Participants

25 people

The number who actually took part.

Started

Dec 2024

Finished

Dec 2025

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.

Ages

18 to 75 years

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: * Presenting an heterozygous mutation on AGXT * Presenting symptoms (presence or history of stones, nephrocalcinosis) or not Exclusion Criteria: * Individuals unable to provide 24-hour urine samples. * Individuals unable to free up a morning for day hospital appointments * Individuals deprived of liberty by a judicial or administrative decision. * Adults under a legal protection measure (guardianship, trusteeship). * Individuals placed under judicial protection. * Participants enrolled in another study with an ongoing exclusion period * Pregnant women. * Individuals not covered by social security

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Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

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

Contacts and locations

Locations

  • CLIMA, pavillon R, Hôpital Edouard Herriot

    Lyon, 69003, France