Genotype-phenotype Relationship Between Cryptogenic Cholestasis and Familial Intrahepatic Cholestasis

Recruiting

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

• Registration Number: NCT06781242
• Lead Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna

Brief Summary

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

Detailed 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.

Study Timeline

• Study Start: 2024-01-16
• Status Verified: 2024-10
• Study First Submitted: 2024-12-03
• Primary Completion: 2025-01
• Study First Submitted QC: 2025-01-13
• Last Update Submitted: 2025-01-13
• Study First Posted: 2025-01-17
• Last Update Posted: 2025-01-17
• Study Completion: 2025-09

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 300

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Mutation classification in PFIC genes in patients with CCLDs	12 months	Estimate the percentage of pathological mutations, probably pathological, variants to uncertain significance, probably benign, benign in PFIC genes in subjects with CCLDs

Secondary Outcome Measures

Name	Time	Method
Clinical Outcomes in PFIC Gene Mutation Carriers	12 months	Percentage of patients with PFIC gene mutations affected by CCLDs, HBCs, BRIC, LPAC, ICP, DIC, advanced fibrosis, and/or neonatal jaundice
Histological Patterns of Familial Intrahepatic Cholestasis in PFIC Gene Mutation Carriers	12 months	Percentages of patients with PFIC genes who have a histological pattern compatible with familial intrahepatic cholestasis.

Trial Locations

Locations (2)

IRCCS - Azienda Ospedaliero-Universitaria di Bologna; 🇮🇹 Bologna, Italy

Ospedale Civile Sant'Agostino Estense Baggiovara; 🇮🇹 Modena, Italy