Genotype-phenotype Relationship Between Cryptogenic Cholestasis and Familial Intrahepatic Cholestasis
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Cholestatic Liver Disease, Intrahepatic Cholestasis, Progressive Familial Intrahepatic Cholestasis, Hepatobiliary Cancer. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Genotype-phenotype Relationship Between Adult Cryptogenic Cholestasis and Mutations in Genes Responsible for Progressive Familial Intrahepatic Cholestasis
Overview
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.
Primary outcome measures
- Mutation classification in PFIC genes in patients with CCLDs [Time frame: 12 months]
Secondary outcome measures (2)
- Clinical Outcomes in PFIC Gene Mutation Carriers [Time frame: 12 months]
- Histological Patterns of Familial Intrahepatic Cholestasis in PFIC Gene Mutation Carriers [Time frame: 12 months]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Italy · 2 centers
- IRCCS - Azienda Ospedaliero-Universitaria di Bologna — Bologna
- Ospedale Civile Sant'Agostino Estense Baggiovara — Modena
Identifiers
NCT: NCT06781242 · Ad-FIC · 3000468