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

NCT ID NCT04874909

Completed 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.

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.

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

Contacts and locations

Locations

  • Hôpital Necker-Enfants Malades

    Paris, 75015, France