Clinical trial · Observational
Familial Intrahepatic Cholestasis-related Genes Associated with Disease Susceptibility in Hepato-biliary Cancers
NCT06777914CI-TRIAL-00084756recruitingClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
This is a cross-sectional, multicenter tissue study with an exploratory aim to estimate the prevalence of genetic mutations that predispose individuals to diseases in the context of cholestatic disorders and hepatobiliary neoplasms. It is intended as a hypothesis-generating study for future empirical investigations.
Conditions
Conditions (3)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Cholestatic Liver Disease | — | UNRESOLVED | — |
| Hepatobiliary Cancers | Malignant Hepatobiliary Neoplasm | ALIAS | 0.90 |
| Progressive Familial Intrahepatic Cholestasis (PFIC) | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
No intervention recorded.
Design
Arms and outcomes
Arms (0)
[]Primary outcomes (1)
- measure
- Prevalence of Pathogenic and Variant Mutations in PFIC Genes in HBCs and CCLDs Patients
- timeFrame
- 3 years
- description
- To estimate the prevalence of pathogenic germline mutations, probably pathogenic mutations, variants of uncertain significance, probably benign variants, and benign variants in the genes responsible for PFIC in individuals diagnosed with HBCs who have undergone liver resection or liver transplantation, and in a population of patients with CCLDs.
Secondary outcomes (4)
- measure
- Identifying New PFIC-Associated Genes in HBCs and CCLDs Patients Negative for NGS Analysis via WES
- timeFrame
- 3 years
- description
- Estimate the percentage of patients carrying newly identified genes potentially responsible for PFIC, discovered through WES
- measure
- Identification of Somatic Mutations in Tumor Tissue Samples from Patients Undergoing Liver Resection or Transplantation for HBCs
- timeFrame
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 12 Months
Show eligibility criteria text
Inclusion Criteria: * Instrumental or histological diagnosis of HBCs, defined as primary liver and/or biliary tumors (hepatocellular carcinoma, cholangiocarcinoma, hepatocholangiocarcinoma) occurring in patients without apparent underlying chronic liver disease or in the context of cryptogenic chronic liver disease; * Curative treatment through surgical resection of the neoplasm or liver transplantation * Diagnosis of CCLDs defined as: 1. GGT and/or alkaline phosphatase \>1.5 times the normal values in two or more measurements taken at least 6 months apart, 2. A history of pruritus combined with \[BA\] \>10 mmol/l for a period of ≥6 months. * Obtaining written informed consent Exclusion Criteria: * Other documented causes of chronic liver disease that can justify the clinical phenotype include: Primary biliary cholangitis Primary sclerosing cholangitis IgG4-related cholangiopathy Obstructive jaundice excluded by the demonstration of normal bile duct anatomy Negative virological tests for HBV, HCV, HEV Alcohol abuse Hemochromatosis Wilson's disease Alpha-1 antitrypsin deficiency
References
Publications (0)
Data not yet available
No reference posted for this study.