DEFINITION OF THE GENOMIC LANDSCAPE OF MASLD

Plain-language summary

This study examines the genomic makeup of metabolic dysfunction-associated steatotic liver disease (MASLD) to identify the genetic and somatic variants involved in progression toward advanced fibrosis and liver cancer (hepatocellular carcinoma). It enrolls patients aged 40 to 70 with advanced MASLD, along with healthy blood donors as a comparison group. It is a study with no assigned phase and is currently recruiting participants.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

Not Applicable

Status

Recruiting

Sponsor

Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

Intervention

genetic and somatic variants involved in its progression toward advanced fibrosis and hepatocellular carcinoma

Start date

9/1/2025

Estimated completion

8/31/2026

Countries

Italy

Related genes

Locations

• Milan, Italy

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

Specific Inclusion Criteria for Patients with Advanced MASLD:

* Patients with advanced MASLD defined as liver fibrosis ≥2 and/or the development of HCC (Hepatocellular Carcinoma);
* Patients enrolled in the context of the SERENA study and, where applicable, also in the context of the REASON study;
* Liver biopsy for suspected Non-Alcoholic Steatohepatitis (NASH) at the time of diagnosis;
* Cholecystectomies;
* Age \[40-70 years\];
* Patients who have signed the informed consent form.

Specific Inclusion Criteria for the Control Group:

Blood donors participating in the Liver Bible study aged between 40 and 70 years who are overweight or obese and have at least two of the following risk factors:

* Impaired fasting glucose or Diabetes Mellitus
* Dyslipidemia
* Arterial hypertension.

Exclusion Criteria:

Specific exclusion Criteria for Patients with Advanced MASLD:

* Positivity for chronic viral hepatitis (HCV-RNA and/or HBsAg);
* Positivity for other liver diseases such as autoimmune and viral hepatitis (Hepatitis B and C), hereditary hemochromatosis, alpha-1-antitrypsin deficiency, or Wilson's disease.

Specific Exclusion Criteria for the Control Group:

Subjects with chronic degenerative diseases will be excluded, with the exception of well-controlled hypertension and Type 2 Diabetes Mellitus that does not require pharmacological therapy (as is already standard practice for blood donation eligibility). Also excluded are donors aged \> 65 and \< 40 years.