What is this study trying to find out about hepatobiliary cancers and cholestatic liver diseases?

This study aims to explore the genetic mutations that may increase the risk of cholestatic liver diseases and hepatobiliary cancers. Researchers want to understand how these mutations are linked to disease development to guide future research. The study is sponsored by IRCCS Azienda Ospedaliero-Universitaria di Bologna.

Who may be eligible for this hepatobiliary cancers clinical trial?

Adults aged 1 year or older diagnosed with hepatobiliary cancers or cholestatic liver diseases may be eligible. Individuals must have had surgical removal of tumors or liver transplantation and no other chronic liver diseases like primary biliary cholangitis. The study accepts all genders. Please review eligibility criteria for more details.

Is there any cost to participate in this hepatobiliary cancers clinical trial?

Study-related care, including genetic testing and all trial visits, is provided at no cost. However, personal travel or accommodation expenses may vary and are not guaranteed to be covered by the study.

Actively Recruiting

Age: 12Months +

All Genders

ID06777914

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

Led by IRCCS Azienda Ospedaliero-Universitaria di Bologna · Updated on 2025-01-16

600

Participants Needed

Research Sites

N/A

Total Duration

AI-Summary

What this Trial Is About

Researchers are exploring the prevalence of genetic mutations linked to cholestatic liver diseases and hepatobiliary cancers in this multicenter, cross-sectional tissue study. The goal is to generate new hypotheses for future research by examining the genetic factors that may predispose individuals to these conditions. The study focuses on primary liver or biliary tumors occurring in patients without obvious chronic liver disease or with cryptogenic chronic liver disease. The study collects patient data including medical history, imaging tests like ultrasound, CT, and MRI, liver function tests, and bile acid levels. Non-invasive liver fibrosis assessments and liver biopsies are used when applicable. Genetic analysis is performed using a multiplex PCR NGS panel covering 37 genes related to Progressive Familial Intrahepatic Cholestasis (PFIC). If necessary, Whole Exome Sequencing (WES) is done to find new PFIC-related genes, especially in patients with hepatobiliary cancers on a healthy liver or with a family history. Tumor tissue samples are also analyzed for somatic mutations to help guide treatment or family screening. Participants provide clinical history, undergo liver function tests, and have assessments of liver fibrosis and response to treatment. Data on surgical procedures and outcomes are collected for those undergoing surgery. Genetic findings are confirmed and counseling is offered for significant results. The study measures the prevalence of pathogenic mutations over three years and compares genetic variations with population databases. All data is securely stored and analyzed by clinical staff to improve understanding of these liver diseases and cancers.

CONDITIONS

Brief Title

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

Who Can Participate

Age: 12Months +

All Genders

Eligibility Criteria

You may qualify if you...

Diagnosis of primary liver and/or biliary tumors (hepatocellular carcinoma, cholangiocarcinoma, hepatocholangiocarcinoma) without known chronic liver disease or with cryptogenic chronic liver disease
Curative treatment by surgical removal of the tumor or liver transplantation
Diagnosis of chronic cholestatic liver diseases defined by elevated GGT or alkaline phosphatase (>1.5 times normal in two or more tests at least 6 months apart) or history of itching with bile acid levels >10 mmol/l for 6 months or more
Ability to provide written informed consent

You will not qualify if you...

Presence of other chronic liver diseases explaining symptoms, including primary biliary cholangitis, primary sclerosing cholangitis, IgG4-related cholangiopathy, or obstructive jaundice with normal bile ducts
Positive viral tests for HBV, HCV, or HEV
History of alcohol abuse
Diagnosis of hemochromatosis, Wilson's disease, or alpha-1 antitrypsin deficiency

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Diagnostic Evaluation

Duration - Up to 3 years

Participants undergo collection of medical history, imaging tests, liver function tests, bile acid levels, and non-invasive liver fibrosis assessments. Molecular genetic analysis and tissue sample evaluations are also conducted.

Visits as needed for testing and sample collection

Long-term Monitoring

Duration - Up to 3 years

Participants are observed over time for the prevalence of genetic mutations, clinical features, and outcomes related to liver diseases and cancers.

Follow-up visits depending on clinical and research needs

Trial Site Locations

Total: 5 locations

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