Actively Recruiting
Defining the Genomic Landscape of Metabolic Steatotic Liver Disease (MASLD)
Led by Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico · Updated on 2025-11-25
2880
Participants Needed
1
Research Sites
4 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) is a common cause of chronic liver disease affecting over 30% of people globally. It is linked to insulin resistance and cardiometabolic issues, and in some cases, it can progress to steatohepatitis (MASH), leading to serious liver damage, fibrosis, cirrhosis, or liver cancer. The condition has a strong genetic component, but many genetic factors remain unknown, especially rare variants and somatic mutations that may influence disease progression. This study focuses on understanding these genetic aspects to improve disease management. The research involves analyzing genetic profiles through Whole-Genome Sequencing (WGS) of blood samples from 800 patients with advanced MASLD and 2000 control individuals with metabolic risk factors but no MASLD. Additionally, 80 liver tissue samples from MASLD patients will be sequenced to identify somatic mutations. The study aims to discover new genetic variants, develop polygenic risk scores for better risk prediction, and find potential targets for treatment. Participants will provide blood samples for DNA sequencing, and patients with advanced MASLD may also provide liver tissue samples. Researchers will assess genetic information to identify risk factors and mechanisms behind disease progression. The primary outcome is identifying genetic risk for advanced MASLD within 11 months. The study will enhance understanding of MASLD biology and may lead to improved risk stratification and therapeutic options. The study runs from September 2025 to August 2026.
CONDITIONS
Brief Title
DEFINITION OF THE GENOMIC LANDSCAPE OF MASLD
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients with advanced MASLD defined as liver fibrosis stage 2 or higher and/or hepatocellular carcinoma
- Patients enrolled in the SERENA study and, if applicable, the REASON study
- Liver biopsy performed for suspected Non-Alcoholic Steatohepatitis (NASH) at diagnosis
- Patients undergoing cholecystectomy
- Age between 40 and 70 years
- Signed informed consent form
- Blood donors aged 40 to 70 years who are overweight or obese with at least two metabolic risk factors (impaired fasting glucose or diabetes mellitus, dyslipidemia, arterial hypertension)
You will not qualify if you...
- Positive for chronic viral hepatitis (HCV-RNA and/or HBsAg)
- Presence of other liver diseases such as autoimmune hepatitis, hereditary hemochromatosis, alpha-1-antitrypsin deficiency, or Wilson's disease
- Chronic degenerative diseases in control group except well-controlled hypertension and type 2 diabetes mellitus without pharmacological therapy
- Blood donors younger than 40 or older than 65 years
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 11 months
Participants provide peripheral blood samples for Whole-Genome Sequencing to identify genetic and somatic variants associated with MASLD progression.
1 visit (in-person)
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
Luca Vittorio Carlo Valenti, Doctor
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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