Genotype-phenotype Relationship Between Cryptogenic Cholestasis and Familial Intrahepatic Cholestasis

Scientific Institute for Research Hospitalization and Healthcare (IRCCS)

Status: Enrolling

Conditions: Progressive Familial Intrahepatic Cholestasis; Cholestatic Liver Disease; Hepatobiliary Cancer; Intrahepatic Cholestasis

Study type: Observational

Funder types: Other

Identifiers

NCT06781242

3000468 (Other Grant/Funding Number)

Ad-FIC

Details and patient eligibility

About

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

Full description

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.

Enrollment: 300 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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