An observational study in Cholestatic Liver Disease, Intrahepatic Cholestasis and Progressive Familial Intrahepatic Cholestasis, sponsored by IRCCS Azienda Ospedaliero-Universitaria di Bologna. Recruiting at 2 sites in Italy. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2025-01-17.
Sponsored by IRCCS Azienda Ospedaliero-Universitaria di Bologna · Observational
Genotype-phenotype relationship between adult cryptogenic cholestasis and mutations in genes responsible for progressive familial intrahepatic cholestasis
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.
33 studies on the registry are indexed under Cholestasis, progressive familial intrahepatic 1; 13 are open to participants now.
This study's planned enrollment of 300 is above the median of 200 across 17 observational studies indexed under Cholestasis, progressive familial intrahepatic 1.
Browse Cholestasis, progressive familial intrahepatic 1 studies →IRCCS Azienda Ospedaliero-Universitaria di Bologna is the lead sponsor of 513 studies on the registry; 288 are open to participants now.
Compared within Cholestasis, progressive familial intrahepatic 1, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Cholestasis, Intrahepatic. The counts are of registry records indexed under each term, refreshed daily. How we classify →
Data from all patients with PFIC/CCLDs/HBCs will be collected and retrospectively evaluated relating to the centers participating in the study from May 2013 until the start date of the study.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Mutation classification in PFIC genes in patients with CCLDs
Estimate the percentage of pathological mutations, probably pathological, variants to uncertain significance, probably benign, benign in PFIC genes in subjects with CCLDs
Time frame: 12 months
Clinical Outcomes in PFIC Gene Mutation Carriers
Percentage of patients with PFIC gene mutations affected by CCLDs, HBCs, BRIC, LPAC, ICP, DIC, advanced fibrosis, and/or neonatal jaundice
Time frame: 12 months
Histological Patterns of Familial Intrahepatic Cholestasis in PFIC Gene Mutation Carriers
Percentages of patients with PFIC genes who have a histological pattern compatible with familial intrahepatic cholestasis.
Time frame: 12 months
Started Jan 2024 (actual). Primary completion is estimated for Jan 2025, 12 months after the start.
How these figures are worked out, and which studies are left out of them.
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