Accumulation of Lipid Droplets as an Underlying Cause of the Progression of Fatty Liver Disease to Liver Cancer
Metabolic dysfunction-associated steatotic liver disease (MASLD) is currently the leading cause of chronic liver disease, accounting for an increasing burden of cirrhosis, hepatocellular carcinoma (HCC), and related mortality, thus representing a major emerging public health threat. Currently, the primary unmet clinical needs in progressive MASLD remain the development of non-invasive biomarkers and effective therapeutic options.
The objective is to delineate the pathogenic mechanisms driving the transition from hepatic lipid accumulation to steatohepatitis, fibrosis, and HCC, based on the hypothesis that alterations in lipid droplet (LD) biology within hepatocytes and resident liver cells are early, decisive factors in disease progression. To test this, human genetic studies from well-characterized cohorts will be combined with human liver organoids (HLOs) and artificial intelligence (AI) tools.
Specifically, common and rare genetic variants will be integrated into partitioned polygenic risk scores (pPRS) to link genetic predisposition to specific LD morphological and functional traits. Furthermore, an innovative high-throughput screening platform using multi-omic approaches will be developed to deconvolve the genetic diversity of MASLD through LD profiling. Finally, these data will be integrated via AI algorithms to refine risk stratification, develop new diagnostic and prognostic tools for cirrhosis and HCC, and identify novel therapeutic targets. Ultimately, the identification of high-risk MASLD subtypes through specific LD pathways will enable precision medicine strategies, significantly improving clinical management.
Panoramica dello studio
Stato
Stato
Condizioni
Condizioni
Intervento / Trattamento
Intervento / Trattamento
Tipo di studio
Tipo di studio
Iscrizione (Stimato)
Iscrizione
Fase
Fase
- Non applicabile
Contatti e Sedi
Luoghi di studio
-
-
Milano
-
Milan, Milano, Italia, 20122
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico - Istituto di Ricovero e Cura a Carattere Scientifico di natura pubblica
-
-
Criteri di partecipazione
Criteri di ammissibilità
Criteri di ammissibilità
Età idonea allo studio
- Adulto
- Adulto più anziano
Accetta volontari sani
Descrizione
Inclusion Criteria:
- The retrospective cohort consists of patients previously enrolled in the SERENA, REASON, REVEAL, FOGS, and LIVER BIBLE studies who have provided informed consent for the use of their data.
- In the SERENA study, inclusion is restricted to patients aged 45-75 with a diagnosis of MASLD, MetALD, or cryptogenic SLD, showing evidence of F3-F4 fibrosis or cirrhosis through histology, imaging, or non-invasive markers (stiffness >7.9 kPa).
- High-risk profiles, such as those with a family history of HCC or specific genetic variants (PNPLA3, TM6SF2, MBOAT7), are also included.
- The REASON and REVEAL studies contribute adult patients (≥18 years) who underwent liver biopsies for suspected NASH, liver resections for HCC or other lesions, or whole liver explants.
- The FOGS study includes individuals aged 14-80 who specifically do not present with MASLD, MetALD, or cryptogenic SLD.
- The LIVER BIBLE study provides a control group of blood donors (40-65 years) who are overweight or obese and present at least two metabolic risk factors such as hypertension, dyslipidemia, or impaired fasting glucose.
- The prospective cohort is divided into two distinct groups: a healthy control population and a MASLD/HCC population. Healthy controls must be at least 18 years old with no clinical or imaging evidence of liver disease, no significant metabolic disorders (such as diabetes or severe obesity with BMI >30), and normal liver function tests. Their alcohol consumption must remain below 20g/day for women and 30g/day for men. The MASLD/HCC population includes adults with a confirmed diagnosis of MASLD or MetALD via imaging or histology. This group encompasses the full spectrum of the disease, from simple steatosis to advanced fibrosis, cirrhosis, and HCC. HCC cases must be diagnosed according to AASLD/EASL guidelines and staged using the BCLC system.
- All prospective participants must provide signed informed consent and have comprehensive clinical and laboratory data available.
Exclusion Criteria:
- The Retrospective, patients with an alcohol intake exceeding 60/40 g/day (M/F) or those with diagnosed genetic liver conditions-such as hereditary hemochromatosis, Wilson's disease, or Alpha-1 Antitrypsin deficiency-are excluded due to their increased baseline risk for HCC. Additionally, the use of medications known to induce secondary steatosis is a disqualifying factor.
- The SERENA study, any prior diagnosis of HCC before the study start date or a medical prognosis of less than two years results in exclusion.
- Prospective participants are excluded if they present with liver diseases of known etiologies other than MASLD, including viral, autoimmune, or purely alcoholic cirrhosis. Genetic liver diseases associated with high HCC risk (e.g., Wilson's disease, Hemochromatosis) and the presence of non-HCC hepatic malignancies, such as cholangiocarcinoma or secondary metastases, are also grounds for exclusion. Furthermore, patients are ineligible if they suffer from severe concurrent comorbidities-such as advanced renal or heart failure or systemic infections-that could interfere with study compliance or data interpretation. Finally, the ongoing use of steatogenic medications remains a strict exclusion criterion for this cohort.
Piano di studio
Come è strutturato lo studio?
Dettagli di progettazione
- Scopo principale: Prevenzione
- Assegnazione: N / A
- Modello interventistico: Assegnazione di gruppo singolo
- Mascheramento: Nessuno (etichetta aperta)
Numero di armi
Armi e interventi
Gruppo di partecipanti / ArmGruppo di partecipanti / Arm |
Intervento / TrattamentoIntervento / Trattamento |
|---|---|
|
Sperimentale: A Multicenter Longitudinal Study on the Pathogenetic Drivers of MASLD
The study protocol involves a series of procedural interventions aimed at identifying biomarkers and therapeutic targets for MASLD progression.
This includes the collection and processing of liver tissue for the generation of Human Liver Organoids (HLOs), which serve as a primary biological model for testing disease mechanisms.
Procedural assessment is further enhanced by the use of HistoIndex digital pathology, a specialized diagnostic device that employs second-harmonic generation (SHG) microscopy for AI-driven, stain-free phenotyping of liver fibrosis and lipid droplet morphology.
Additionally, the integration of multi-omic screening platforms constitutes a core technical intervention to deconvolve genetic diversity.
These diagnostic and technological interventions are applied alongside standardized clinical monitoring of cohorts (Liver-BIBLE, SERENA, REVEAL, REASON, and FOGS) to correlate molecular data with clinical outcomes such as cirrhosis and HCC development.
|
DNA isolation followed by Whole Exome Sequencing (WES) to identify rare and common genetic variants.
This intervention includes single-cell transcriptomics for precise immunophenotyping of liver resident cells and the mapping of cellular heterogeneity across the MASLD spectrum.
Generation and analysis of 3D Human Liver Organoids (HLOs) from patient biological samples.
These models are utilized to study lipid droplet (LD) biology, hepatocyte function, and the mechanisms of disease progression in a controlled, patient-specific environment.
Use of a non-invasive, stain-free imaging system based on second-harmonic generation (SHG) microscopy.
This device provides automated, AI-driven quantification of liver fibrosis and detailed morphological assessment of lipid droplets.
Advanced lipidomic profiling of lipid droplets (LD) conducted on liver samples to identify specific lipid signatures associated with the transition from simple steatosis to hepatocellular carcinoma (HCC).
Application of artificial intelligence algorithms to integrate multi-omic data (genomic, transcriptomic, lipidomic) with clinical outcomes.
This intervention focuses on developing refined risk stratification tools and identifying novel therapeutic targets for cirrhosis and HCC.
|
Cosa sta misurando lo studio?
Misure di risultato primarie
Misure di risultato primarie
Misura del risultato |
Misura Descrizione |
Lasso di tempo |
|---|---|---|
|
Incidence of High-Risk MASLD with Advanced Liver Fibrosis
Lasso di tempo: up to 24 months
|
Presence of significant to advanced liver fibrosis, defined as histological or non-invasive stage >= F2 (evaluated via transient elastography/FibroScan liver stiffness >7.9 kPa, liver biopsy, or validated non-invasive scoring systems such as NAFLD Fibrosis Score, APRI, or FIB-4).
The predictive accuracy of multi-level polygenic risk scores (PRS/pPRS) and multi-omic models in stratifying this risk will be evaluated using area under the receiver operating characteristic curve (AUC-ROC) and logistic regression odds ratios.
|
up to 24 months
|
|
Incidence of Hepatocellular Carcinoma (HCC)
Lasso di tempo: up to 24 months
|
Diagnosis of new or existing Hepatocellular Carcinoma (HCC) confirmed according to AASLD/EASL guidelines using dynamic imaging (Contrast-Enhanced Computed Tomography [CT] or Magnetic Resonance Imaging [MRI]) or histological examination.
The performance of genetic (PRS/pPRS) and multi-omic predictive algorithms in identifying individuals at high risk for developing HCC within the MASLD population will be assessed.
|
up to 24 months
|
Misure di risultato secondarie
Misure di risultato secondarie
Misura del risultato |
Misura Descrizione |
Lasso di tempo |
|---|---|---|
|
Comparative Predictive Performance of Partitioned Polygenic Risk Scores (PRS)
Lasso di tempo: up to 24 months
|
Evaluation and comparison of the predictive power among different polygenic risk score constructs (hepatic lipid retention-pPRS, concordant-pPRS, and multi-level polygenic risk scores [mlpPRS]) in predicting the development of liver fibrosis, as measured by the Area Under the Receiver Operating Characteristic curve (AUC-ROC).
|
up to 24 months
|
|
Characterization of Subtypes of Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD)
Lasso di tempo: up to 24 months
|
Differentiation of distinct biological subtypes of MASLD based on lipid droplet (LD) phenotypic features (morphology, lipidomic composition, live-imaging kinetics, and transcriptomic profiling) measured in human liver organoids (HLOs) and liver tissues using confocal microscopy, holotomography, and mass spectrometry.
|
up to 24 months
|
|
Immunological Profiling and Biomarkers of MASLD Progression
Lasso di tempo: up to 24 months
|
Identification of immune cell phenotypes and inflammatory response patterns associated with disease progression and HCC development, measured by single-cell RNA sequencing (scRNA-seq) of peripheral blood mononuclear cells (PBMCs) and quantification of serum immune biomarkers across genetic risk strata.
|
up to 24 months
|
Collaboratori e investigatori
Sponsor
Sponsor
Studiare le date dei record
Studia le date principali
Inizio studio (Effettivo)
Inizio studio
Completamento primario (Stimato)
Completamento primario
Completamento dello studio (Stimato)
Completamento dello studio
Date di iscrizione allo studio
Primo inviato
Primo inviato
Primo inviato che soddisfa i criteri di controllo qualità
Primo inviato che soddisfa i criteri di controllo qualità
Primo Inserito (Effettivo)
Primo Inserito
Aggiornamenti dei record di studio
Ultimo aggiornamento pubblicato (Effettivo)
Ultimo aggiornamento pubblicato
Ultimo aggiornamento inviato che soddisfa i criteri QC
Ultimo aggiornamento inviato che soddisfa i criteri QC
Ultimo verificato
Ultimo verificato
Maggiori informazioni
Termini relativi a questo studio
Termini MeSH pertinenti aggiuntivi
Altri numeri di identificazione dello studio
Altri numeri di identificazione dello studio
- PRECURSOR-HCC
Informazioni su farmaci e dispositivi, documenti di studio
Studia un prodotto farmaceutico regolamentato dalla FDA degli Stati Uniti
Studia un dispositivo regolamentato dalla FDA degli Stati Uniti
Queste informazioni sono state recuperate direttamente dal sito web clinicaltrials.gov senza alcuna modifica. In caso di richieste di modifica, rimozione o aggiornamento dei dettagli dello studio, contattare register@clinicaltrials.gov. Non appena verrà implementata una modifica su clinicaltrials.gov, questa verrà aggiornata automaticamente anche sul nostro sito web .