Kidney stone mystery: why some gene carriers get sick and others stay healthy
NCT ID NCT06283082
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
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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
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25 people
The number who actually took part.
- Started
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Dec 2024
- Finished
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Dec 2025
- Lead sponsor
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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
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18 to 75 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
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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
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CLIMA, pavillon R, Hôpital Edouard Herriot
Lyon, 69003, France