Exploring genetic mutations linked to liver cancers and cholestatic diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to investigate the prevalence of genetic mutations associated with cholestatic liver diseases and hepatobiliary cancers. It involves a multicenter, cross-sectional tissue analysis where patient data, including medical history and imaging tests, will be collected. Genetic testing will be performed using a multiplex PCR NGS panel and Whole Exome Sequencing for patients with a high clinical suspicion of genetic predisposition. The study is designed to generate hypotheses for future empirical research on these conditions.

Why it matters

Who can join: the full rules

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

Where it's running

• IRCCS Azienda Ospedaliero-Universitaria di Bologna - Programma Chirurgia addominale nell'insufficienza d'organo terminale e nei pazienti con trapianto d'organo
  Bologna, Bologna, Italy Recruiting
• IRCCS Azienda Ospedaliero-Universitaria di Bologna - UO Chirurgia Epatobiliare e dei Trapianti
  Bologna, Bologna, Italy Recruiting
• IRCCS Azienda Ospedaliero-Universitaria di Bologna - UO Gastroenterologia
  Bologna, Bologna, Italy Recruiting
• IRCCS Azienda Ospedaliero-Universitaria di Bologna - UO Medicina Interna per il trattamento delle gravi insufficienze d'organo
  Bologna, Bologna, Italy Recruiting
• IRCCS Azienda Ospedaliero-Universitaria di Bologna - UO Medicina Interna, malattie epatobiliari e immunoallergologiche
  Bologna, Bologna, Italy Recruiting

Study contacts

• Principal investigator: Giovanni Vitale, MD — IRCCS Azienda Ospedaliero-Universitaria di Bologna
• Study coordinator: Giovanni Vitale
• Email: giovanni.vitale@aosp.bo.it
• Phone: 051.214.3702

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.