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Kidney stone gene mystery: could one faulty copy be enough?

NCT ID NCT07201701

Knowledge-focused Sponsor: Hospices Civils de Lyon Source: ClinicalTrials.gov ↗

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 This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 looks at whether having one or two faulty copies of the CYP24A1 gene makes kidney stones more likely. Researchers will compare people with different gene variants to see how often stones occur. The goal is to better understand the genetic factors behind this common and painful condition.

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 45 people

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

Expected to start

Dec 2025

An estimate. Start dates often move.

Expected to finish

Apr 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

The study focuses on patients who are CYP24A1 heterozygous, CYP24A1 homozygous, or compound heterozygous.

Ages

2 to 90 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: Group 1: Heterozygous Patients * Aged between 2 and 90 years * Weight \> 12 kg * Carriers of a heterozygous CYP24A1 mutation * With or without symptoms: history of nephrocalcinosis or kidney stones Group 2: Homozygous / Compound Heterozygous Patients * Aged between 2 and 90 years * Weight \> 12 kg * Carriers of a homozygous or compound heterozygous CYP24A1 mutation * With or without symptoms: history of nephrocalcinosis or kidney stones Exclusion Criteria: * Individuals unable to collect 24-hour urine * Individuals unable to be available for a full day in a day hospital (HDJ) * Pregnant, postpartum, or breastfeeding women * Individuals deprived of liberty by judicial or administrative decision * Individuals receiving psychiatric care * Individuals admitted to a healthcare or social institution for reasons other than participation in research * Adults under legal protection (guardianship or trusteeship) * Individuals not affiliated with a social security system or not benefiting from an equivalent scheme

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Conditions

The condition(s) this trial relates to.

nephrocalcinosis nephrolithiasis

As listed by the trial registrant

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

Nephrolithiasis

How to take part

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

  1. The places running it

    2 sites. 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

  • Hôpital Edouard Herriot

    Lyon, France

  • Hôpital Femme Mère Enfant

    Bron, France

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