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.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

Hyperoxaluria kidney disorder Lithiasis primary hyperoxaluria primary hyperoxaluria type 1

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