Genotype-phenotype Relationship Between Cryptogenic Cholestasis and Familial Intrahepatic Cholestasis

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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT06781242

Enrollment

300

Registered

2025-01-17

Start date

2024-01-16

Completion date

2025-09-30

Last updated

2025-01-17

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Cholestatic Liver Disease, Hepatobiliary Cancer, Intrahepatic Cholestasis, Progressive Familial Intrahepatic Cholestasis

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

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

Design outcomes

Primary

Measure	Time frame	Description
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

Measure	Time frame	Description
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.

Countries

Italy

Contacts

Primary ContactGiovanni Vitale, MD

giovanni.vitale@aosp.bo.it0512144187

Outcome results