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Scientists hunt for genes behind rare kidney disease

NCT ID NCT01312727

What the study statuses mean

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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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 looked at 225 adults with a rare, inherited form of kidney disease to find the genetic causes. Participants had chronic kidney failure and often had a family history of gout. Researchers tested for known gene mutations and searched for new ones in families without a clear genetic cause. The goal was to better understand the disease, not to test a treatment.

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

225 people

The number who actually took part.

Start date

Nov 2010

Finished

Jul 2016

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 years and older

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: * Age ≥ 18 years. * HTIN of unknown cause * Chronic renal failure defined by a eGFR (estimated Glomerular Filtration Rate) estimated according to MDRD (Modification of the Diet in Renal Disease) \< 60ml / min / 1,73m2. * At least two siblings affected by gout before 40 years or by chronic renal failure. * Affiliated or benefiting from a national insurance * Signature of the enlightened consent. Exclusion Criteria: * Endstage renal failure before the age of 18 years in all affected subjects of the family. * Microscopic or macroscopic persistent hematuria, or proteinuria \> 1gramme / 24hours. * Other potential cause of TIN (Tubulointerstitial Nephritis): pyelonephritis, drug toxicity. * High blood pressure known for more than 10 years before the discovery of the renal disease. * Major cardiovascular before the discovery of the renal disease. * Chronic auto-immune or infectious disease. * Polycystic kidney disease with increased of the size of the kidneys

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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

  • Hôpital Necker Enfants Malades

    Paris, 75015, France

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Other studies related to the condition(s) this trial covers.