Clinical Trials in Italy / NCT06777914
Recruiting
Observational
Familial Intrahepatic Cholestasis-related Genes Associated with Disease Susceptibility in Hepato-biliary Cancers
NCT06777914 · tracked via the Priya Life Science Italy tracker
Condition(s) studied
Hepatobiliary CancersProgressive Familial Intrahepatic Cholestasis (PFIC)Cholestatic Liver Disease
Study summary
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.
Eligibility
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
Primary outcome measure(s)
- Prevalence of Pathogenic and Variant Mutations in PFIC Genes in HBCs and CCLDs Patients — 3 years
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.
Trial sites (5)
| Facility | City | Region | Status |
|---|---|---|---|
| IRCCS Azienda Ospedaliero-Universitaria di Bologna - Programma Chirurgia addominale nell'insufficienza d'organo terminale e nei pazienti con trapianto d'organo | Bologna | Bologna | Recruiting |
| IRCCS Azienda Ospedaliero-Universitaria di Bologna - UO Chirurgia Epatobiliare e dei Trapianti | Bologna | Bologna | Recruiting |
| IRCCS Azienda Ospedaliero-Universitaria di Bologna - UO Gastroenterologia | Bologna | Bologna | Recruiting |
| IRCCS Azienda Ospedaliero-Universitaria di Bologna - UO Medicina Interna per il trattamento delle gravi insufficienze d'organo | Bologna | Bologna | Recruiting |
| IRCCS Azienda Ospedaliero-Universitaria di Bologna - UO Medicina Interna, malattie epatobiliari e immunoallergologiche | Bologna | Bologna | Recruiting |
More IRCCS Azienda Ospedaliero-Universitaria di Bologna trials in Italy
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Official registry record
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
View NCT06777914 on ClinicalTrials.gov ↗ ← All trials in Italy