Actively Recruiting
Defining the Genetic Drivers of Adult-Onset Cholestatic Liver Disease Using Whole Genome Sequencing
Led by Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico · Updated on 2026-03-27
60
Participants Needed
1
Research Sites
39 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Cholestatic liver disease in adults includes a variety of conditions caused by changes in bile flow inside or outside the liver, which can lead to liver damage or failure. Diagnosing these diseases can be difficult due to their diverse and often subtle symptoms. Genetic testing may help identify the cause of the disease, allowing for more personalized care. While genetic analysis has been useful in other liver diseases and in children, its role in adult cholestatic disease is not well understood. This research aims to study the role of rare genetic variants in adult cholestatic liver disease using whole-genome sequencing (WGS).
CONDITIONS
Brief 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 elevated alkaline phosphatase (ALP) or gamma-glutamyltransferase (GGT) for at least six months unexplained by standard tests
- Adults with a positive family history of unexplained cholestasis or hepato-biliary cancer and negative or no prior genetic tests
- Adults with primary sclerosing cholangitis (PSC) with unusual features such as small-duct PSC, non-typical radiological findings, or absence of inflammatory bowel disease, and negative or no prior genetic tests
- Adults with primary biliary cholangitis (PBC) without specific anti-mitochondrial antibodies and negative or no prior genetic tests
- Blood donors aged 18 to 65 years without clinical signs of liver diseases based on clinical and laboratory parameters
- Signed informed consent
You will not qualify if you...
- Patients lacking the inclusion criteria
- Patients with a known genetic diagnosis explaining their clinical condition
- Patients with other causes of liver disease such as viral or autoimmune hepatitis
- Blood donors showing clinical signs of liver diseases
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 9 months
Participants provide peripheral blood samples for advanced whole genome sequencing to identify rare genetic variants associated with cholestatic liver disease.
1 visit for blood sample collection
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
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
PREVENTION
Number of Arms
1
Similar Trials
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here