Brief 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.

Trial Health

On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment

600

participants targeted

Target at P75+ for all trials

Timeline

17mo left

Started Oct 2024

Typical duration for all trials

Geographic Reach

1 country

5 active sites

Status

recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

2.9 years study duration

Study Progress52%

Oct 2024Oct 2027

Study Start

First participant enrolled

October 22, 2024

Completed

1 month until next milestone

First Submitted

Initial submission to the registry

December 3, 2024

Completed

1 month until next milestone

First Posted

Study publicly available on registry

January 16, 2025

Completed

2.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

October 1, 2027

Expected

Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

October 1, 2027

Last Updated

January 16, 2025

Status Verified

November 1, 2024

Enrollment Period

2.9 years

First QC Date

December 3, 2024

Last Update Submit

January 10, 2025

Conditions

Hepatobiliary Cancers Progressive Familial Intrahepatic Cholestasis (PFIC)Cholestatic Liver Disease

Outcome Measures

Primary Outcomes (1)

Prevalence of Pathogenic and Variant Mutations in PFIC Genes in HBCs and CCLDs Patients
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.
3 years

Secondary Outcomes (4)

Identifying New PFIC-Associated Genes in HBCs and CCLDs Patients Negative for NGS Analysis via WES
3 years
Identification of Somatic Mutations in Tumor Tissue Samples from Patients Undergoing Liver Resection or Transplantation for HBCs
3 years
Laboratory and Clinical Features of HBCs and CCLDs Patients
3 years
Comparison of Allelic Frequency of PFIC-Related Mutations in the NGS Panel between the Study Population and gnomAD Database
3 years

Eligibility Criteria

Age12 Months+

Sexall

Healthy VolunteersNo

Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

Sampling MethodNon-Probability Sample

Study Population

Subjects with a diagnosis of HBCs who have undergone liver resection or liver transplantation, and a population of patients affected by CCLDs.

You may qualify if:

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

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

IRCCS Azienda Ospedaliero-Universitaria di Bolognalead

Study Sites (5)

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