Gene hunt for mysterious adult liver disease

NCT ID NCT07317193

First seen Jun 27, 2026 ยท Last updated Jun 27, 2026

Summary

This study is using advanced whole-genome sequencing to find hidden genetic causes of cholestatic liver disease in adults whose condition remains unexplained after standard tests. Researchers will compare the DNA of 60 affected adults to a large group of healthy controls. The goal is to improve diagnosis and understanding of these rare liver disorders.

What this could mean

Our plain-language read of the trial. This is informational only โ€” not medical advice or a prediction.

What this could lead to
If successful, this could lead to better genetic testing for adults with unexplained liver disease, helping doctors diagnose and manage the condition more effectively.
What could go wrong
This is an early-stage observational study with only 60 participants, so findings may not apply to everyone. Genetic sequencing may not find a cause for many patients.

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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

  • Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico - Istituto di Ricovero e Cura a Carattere Scientifico di natura pubblica

    RECRUITING

    Milan, Milano, 20122, Italy

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