Scientists hunt for genes behind rare kidney disease
NCT ID NCT01312727
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.
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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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225 people
The number who actually took part.
- Start date
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Nov 2010
- Finished
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Jul 2016
- 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 years and older
- 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: * 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
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Hôpital Necker Enfants Malades
Paris, 75015, France
More trials for these conditions
Other studies related to the condition(s) this trial covers.
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