Exploring genetic mutations linked to liver cancers and cholestatic diseases
Familial Intrahepatic Cholestasis-related Genes Associated with Disease Susceptibility in Hepato-biliary Cancers
This study is looking to see if certain genetic changes are more common in people with liver cancers and cholestatic diseases to help understand these conditions better.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 600 (estimated) |
| Ages | 12 Months and up |
| Sex | All |
| Sponsor | IRCCS Azienda Ospedaliero-Universitaria di Bologna Academic / other |
| Locations | 5 sites (Bologna, Bologna and 4 other locations) |
| Trial ID | NCT06777914 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with hepatobiliary cancers or cholestatic liver diseases who meet specific clinical criteria.
Not a fit: Patients with documented causes of chronic liver disease unrelated to the conditions being studied may not benefit from this research.
Why it matters
Potential benefit: If successful, this study could lead to better understanding and potential early detection of genetic predispositions to hepatobiliary cancers and cholestatic liver diseases.
How similar studies have performed: While this approach is exploratory, similar studies have shown promise in identifying genetic factors associated with liver diseases.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Bologna, Bologna and 4 other locations
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.