Genotype-phenotype Relationship Between Cryptogenic Cholestasis and Familial Intrahepatic Cholestasis

IRCCS Azienda Ospedaliero-Universitaria di Bologna300 enrolled

Overview

Genotype-phenotype relationship between adult cryptogenic cholestasis and mutations in genes responsible for progressive familial intrahepatic cholestasis

Due to the high number of unsolved cases of adults with cholestatic liver disease, it is crucial to determine the prevalence of PFIC gene mutations and gather information on various clinical presentations that often coexist. This will help identify risk factors related to the disease and its progression, ultimately allowing for personalized treatment options for affected patients. This multicenter, retrospective observational study will collect data on patients with cholestatic liver diseases (CCLDs) from May 2013 until the study begins. Diagnoses of PFIC/CCLD/HBC will be confirmed through imaging studies, excluding other liver disease causes.

Study Type

OBSERVATIONAL

Enrollment

300

Conditions

Cholestatic Liver Disease Intrahepatic Cholestasis Progressive Familial Intrahepatic Cholestasis Hepatobiliary Cancer

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

Inclusion Criteria: * age ≥ 18 years * diagnosis of PFIC/CCLDs/HBCs * obtaining informed consent Exclusion Criteria: * Another documented cause of chronic liver disease capable of justifying the clinical phenotype

Locations (2)

IRCCS - Azienda Ospedaliero-Universitaria di Bologna

Bologna, Bologna, Italy

RECRUITING

Ospedale Civile Sant'Agostino Estense Baggiovara

Modena, Modena, Italy

RECRUITING

Outcomes

Primary Outcomes

Mutation classification in PFIC genes in patients with CCLDs

Estimate the percentage of pathological mutations, probably pathological, variants to uncertain significance, probably benign, benign in PFIC genes in subjects with CCLDs

Time frame: 12 months

Secondary Outcomes

Clinical Outcomes in PFIC Gene Mutation Carriers

Percentage of patients with PFIC gene mutations affected by CCLDs, HBCs, BRIC, LPAC, ICP, DIC, advanced fibrosis, and/or neonatal jaundice

Time frame: 12 months

Histological Patterns of Familial Intrahepatic Cholestasis in PFIC Gene Mutation Carriers

Percentages of patients with PFIC genes who have a histological pattern compatible with familial intrahepatic cholestasis.

Time frame: 12 months

Central Contacts

Giovanni Vitale, MD

CONTACT

0512144187 giovanni.vitale@aosp.bo.it

Data from ClinicalTrials.gov

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