RecruitingNCT06777914

Familial Intrahepatic Cholestasis-related Genes Associated with Disease Susceptibility in Hepato-biliary Cancers


Sponsor

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Enrollment

600 participants

Start Date

Oct 22, 2024

Study Type

OBSERVATIONAL

Conditions

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

Min Age: 12 Months

Inclusion Criteria6

  • 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:
  • GGT and/or alkaline phosphatase \>1.5 times the normal values in two or more measurements taken at least 6 months apart,
  • A history of pruritus combined with \[BA\] \>10 mmol/l for a period of ≥6 months.
  • Obtaining written informed consent

Exclusion Criteria2

  • 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

Locations(5)

IRCCS Azienda Ospedaliero-Universitaria di Bologna - Programma Chirurgia addominale nell'insufficienza d'organo terminale e nei pazienti con trapianto d'organo

Bologna, Bologna, Italy

IRCCS Azienda Ospedaliero-Universitaria di Bologna - UO Chirurgia Epatobiliare e dei Trapianti

Bologna, Bologna, Italy

IRCCS Azienda Ospedaliero-Universitaria di Bologna - UO Gastroenterologia

Bologna, Bologna, Italy

IRCCS Azienda Ospedaliero-Universitaria di Bologna - UO Medicina Interna per il trattamento delle gravi insufficienze d'organo

Bologna, Bologna, Italy

IRCCS Azienda Ospedaliero-Universitaria di Bologna - UO Medicina Interna, malattie epatobiliari e immunoallergologiche

Bologna, Bologna, Italy

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NCT06777914


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