Gene hunt for mysterious adult liver disease
NCT ID NCT07317193
First seen Jan 05, 2026 · Last updated Jun 19, 2026 · Updated 23 times
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.
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This is a summary of
the original study
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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.
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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Contacts and locations
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico - Istituto di Ricovero e Cura a Carattere Scientifico di natura pubblica
RECRUITINGMilan, Milano, 20122, Italy
Contact Phone: •••-•••-•••• Email: •••••@•••••
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 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.
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.