Esta página se tradujo automáticamente y no se garantiza la precisión de la traducción. por favor refiérase a versión inglesa para un texto fuente.

Accumulation of Lipid Droplets as an Underlying Cause of the Progression of Fatty Liver Disease to Liver Cancer

18 de agosto de 2026 actualizado por: Luca Valenti:, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

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.

Descripción general del estudio

Tipo de estudio

Intervencionista

Inscripción (Estimado)

35500

Fase

  • No aplica

Contactos y Ubicaciones

Esta sección proporciona los datos de contacto de quienes realizan el estudio e información sobre dónde se lleva a cabo este estudio.

Ubicaciones de estudio

    • Milano
      • Milan, Milano, Italia, 20122
        • Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico - Istituto di Ricovero e Cura a Carattere Scientifico di natura pubblica

Criterios de participación

Los investigadores buscan personas que se ajusten a una determinada descripción, denominada criterio de elegibilidad. Algunos ejemplos de estos criterios son el estado de salud general de una persona o tratamientos previos.

Criterio de elegibilidad

Edades elegibles para estudiar

  • Adulto
  • Adulto Mayor

Acepta Voluntarios Saludables

Sí

Descripción

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.

Plan de estudios

Esta sección proporciona detalles del plan de estudio, incluido cómo está diseñado el estudio y qué mide el estudio.

¿Cómo está diseñado el estudio?

Detalles de diseño

  • Propósito principal: Prevención
  • Asignación: N / A
  • Modelo Intervencionista: Asignación de un solo grupo
  • Enmascaramiento: Ninguno (etiqueta abierta)

Armas e Intervenciones

Grupo de participantes/brazo
Intervención / Tratamiento
Experimental: 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.

¿Qué mide el estudio?

Medidas de resultado primarias

Medida de resultado
Medida Descripción
Periodo de tiempo
Incidence of High-Risk MASLD with Advanced Liver Fibrosis
Periodo de tiempo: 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)
Periodo de tiempo: 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

Medidas de resultado secundarias

Medida de resultado
Medida Descripción
Periodo de tiempo
Comparative Predictive Performance of Partitioned Polygenic Risk Scores (PRS)
Periodo de tiempo: 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)
Periodo de tiempo: 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
Periodo de tiempo: 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

Colaboradores e Investigadores

Aquí es donde encontrará personas y organizaciones involucradas en este estudio.

Fechas de registro del estudio

Estas fechas rastrean el progreso del registro del estudio y los envíos de resultados resumidos a ClinicalTrials.gov. Los registros del estudio y los resultados informados son revisados ​​por la Biblioteca Nacional de Medicina (NLM) para asegurarse de que cumplan con los estándares de control de calidad específicos antes de publicarlos en el sitio web público.

Fechas importantes del estudio

Inicio del estudio (Actual)

29 de enero de 2026

Finalización primaria (Estimado)

31 de diciembre de 2026

Finalización del estudio (Estimado)

31 de diciembre de 2028

Fechas de registro del estudio

Enviado por primera vez

2 de febrero de 2026

Primero enviado que cumplió con los criterios de control de calidad

18 de agosto de 2026

Publicado por primera vez (Actual)

20 de agosto de 2026

Actualizaciones de registros de estudio

Última actualización publicada (Actual)

20 de agosto de 2026

Última actualización enviada que cumplió con los criterios de control de calidad

18 de agosto de 2026

Última verificación

1 de abril de 2026

Más información

Términos relacionados con este estudio

Términos MeSH relevantes adicionales

Otros números de identificación del estudio

  • PRECURSOR-HCC

Información sobre medicamentos y dispositivos, documentos del estudio

Estudia un producto farmacéutico regulado por la FDA de EE. UU.

No

Estudia un producto de dispositivo regulado por la FDA de EE. UU.

No

Esta información se obtuvo directamente del sitio web clinicaltrials.gov sin cambios. Si tiene alguna solicitud para cambiar, eliminar o actualizar los detalles de su estudio, comuníquese con register@clinicaltrials.gov. Tan pronto como se implemente un cambio en clinicaltrials.gov, también se actualizará automáticamente en nuestro sitio web. .

Suscribir