Scientists hunt for early warning signs of kidney failure in rare genetic diseases

NCT ID NCT04874909

Knowledge-focused Sponsor: Assistance Publique - Hôpitaux de Paris Source: ClinicalTrials.gov ↗

First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This completed study collected blood and urine samples from 240 people with ciliopathies—rare genetic disorders that often lead to kidney failure. Researchers analyzed these samples to find biological markers that could predict how the disease will progress. The goal is to develop a test that helps doctors identify patients at highest risk for kidney problems, allowing for earlier and more personalized care.

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 could lead to a test that predicts which ciliopathy patients will develop kidney failure, enabling earlier monitoring and care.
What could go wrong: This is an observational study, not a treatment trial. The findings may not lead to a usable test, and results may not apply to all ciliopathy types.

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

240 people

The number who actually took part.

Started

Nov 2021

Finished

Oct 2024

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

Children (under 18), adults (18 to 64) and older adults (65 and over)

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: "Case" Patient : * with nephronophthisis or ciliopathy with known genetic diagnosis or not * signed the Informed consent form (patient or legal guardians if minor/incapable major) * no limit of age, this patients could be recruited from the birth * social insurance affiliation Healthy related individual : * related with a included patient (father, mother, brother, sister) * signed the Informed consent form (major or legal guardians if minor/incapable major) * no limit of age, this patients could be recruited from the birth * social insurance affiliation "Negative Control" patient : * without chronic renal failure * signed the Informed consent form (major or legal guardians if minor/incapable major) * no limit of age, this patients could be recruited from the birth * social insurance affiliation "Positive Control" patient : * with chronic renal failure not related with a ciliary dysfunction * signed the Informed consent form (major or legal guardians if minor/incapable major) * no limit of age, this patients could be recruited from the birth * social insurance affiliation Exclusion Criteria "Case" Patient : * pregnant, parturious and nursing mothers. * with functional renal graft * use an experimental treatment during 30 days before inclusion date Healthy related individual : \- pregnant, parturious and nursing mothers. "Negative Control" patient : \- pregnant, parturious and nursing mothers. "Positive Control" patient : * pregnant, parturious and nursing mothers. * with functional renal graft * use an experimental treatment during 30 days before inclusion date

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Conditions

The condition(s) this trial relates to.

Agenesis of Cerebellar Vermis Bardet-Biedl syndrome chronic renal failure syndrome Ciliopathies ciliopathy hereditary disease Jeune syndrome Joubert syndrome nephronophthisis nephronophthisis 1 Senior-Loken syndrome

As listed by the trial registrant

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

Bardet Biedl syndrome Ciliopathies Jeune syndrome Joubert syndrome Nephronophthisis Senior-loken syndrome

Scientists hunt for early warning signs of kidney failure in rare genetic diseases

What the study statuses mean