Genotype-Phenotype Relationship Between Adult Cryptogenic Cholestasis and Mutations in Genes Responsible for Progressive Familial Intrahepatic Cholestasis

What this Trial Is About

Researchers are investigating the relationship between gene mutations and adult cryptogenic cholestasis, a type of cholestatic liver disease. This study focuses on mutations in genes responsible for progressive familial intrahepatic cholestasis (PFIC). The goal is to better understand how these gene mutations relate to different clinical presentations, identify risk factors, and eventually support personalized treatments for affected patients. This is a multicenter, retrospective observational study collecting data on patients diagnosed with cholestatic liver diseases, including PFIC, cryptogenic cholestatic liver diseases (CCLDs), and hepatobiliary cancer (HBC). Diagnoses are confirmed through imaging studies, and cases with other known liver disease causes are excluded. The study gathers existing patient data from May 2013 until the study start date. Participants will have their gene mutations classified and clinical and histological outcomes assessed over a 12-month period. Researchers will evaluate mutation types in PFIC genes and observe related clinical features and liver tissue patterns. Data collection involves reviewing patient records and diagnostic imaging. Safety monitoring is not applicable as this is an observational study with no interventions, and participant involvement focuses on data review.

Genotype-phenotype Relationship Between Cryptogenic Cholestasis and Familial Intrahepatic Cholestasis