Actively Recruiting
DEFINING THE GENETIC DRIVERS OF ADULT-ONSET CHOLESTATIC LIVER DISEASE
Led by Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico · Updated on 2026-03-27
60
Participants Needed
1
Research Sites
52 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Cholestatic disease in adults comprises a heterogeneous group of conditions characterized by intra- or extrahepatic alterations of bile flow that can lead to fibrosis or hepatic decompensation. Due to the heterogeneity of clinical manifestation, which is sometimes very subtle, diagnosis based on clinical, histological, and radiological evaluation is often very complicated. Genetic testing can be helpful in identifying the cause of the clinical phenotype, thereby allowing for targeted follow-up adequate to the patient's specific characteristics and risk factors. Although the utility of genetic analysis has been well documented for other liver diseases or in pediatric cohorts of children with cholestatic disease, the use and benefits of genetic testing in adults with cholestatic disease are still little explored and investigated. In this context, through the use of whole-genome sequencing (WGS), the FIRST project aims to evaluate the role of rare genetic variants in the pathogenesis of cholestatic disease and the utility of WGS in defining a genetic diagnosis.
CONDITIONS
Official Title
DEFINING THE GENETIC DRIVERS OF ADULT-ONSET CHOLESTATIC LIVER DISEASE
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Adults aged over 18 years with persistent or intermittent high ALP or GGT levels for at least six months unexplained by standard tests or with family history of unexplained cholestasis or hepato-biliary cancer, negative or no previous genetic tests
- Adults with primary sclerosing cholangitis (PSC) with unusual features or primary biliary cholangitis (PBC) without specific anti-mitochondrial antibodies, negative or no previous genetic tests
- Blood donors aged 18 to 65 years without clinical signs of liver disease and with normal clinical laboratory parameters
- Signed informed consent
You will not qualify if you...
- Known genetic diagnosis explaining the liver disease symptoms
- Liver diseases caused by viral or autoimmune hepatitis
- Blood donors showing any clinical signs of liver disease
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico - Istituto di Ricovero e Cura a Carattere Scientifico di natura pubblica
Milan, Milano, Italy, 20122
Actively Recruiting
Research Team
L
Luisa Ronzoni, Doctor
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
PREVENTION
Number of Arms
1
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