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| ID | Type | Description | Link |
|---|---|---|---|
| 3000468 | Other Grant/Funding Number | Albireo Pharma, Inc. |
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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.
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| Measure | Description | Time Frame |
|---|---|---|
| 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 | 12 months |
| Measure | Description | Time Frame |
|---|---|---|
| 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 | 12 months |
| Histological Patterns of Familial Intrahepatic Cholestasis in PFIC Gene Mutation Carriers |
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Inclusion Criteria:
Exclusion Criteria:
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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.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Giovanni Vitale, MD | Contact | 0512144187 | giovanni.vitale@aosp.bo.it |
| Name | Affiliation | Role |
|---|---|---|
| Giovanni Vitale, MD | IRCCS Azienda Ospedaliero-Universitaria di Bologna | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| IRCCS - Azienda Ospedaliero-Universitaria di Bologna | Recruiting | Bologna | Bologna | 40138 | Italy |
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Percentages of patients with PFIC genes who have a histological pattern compatible with familial intrahepatic cholestasis. |
| 12 months |
| Ospedale Civile Sant'Agostino Estense Baggiovara | Recruiting | Modena | Modena | 41126 | Italy |
|
| ID | Term |
|---|---|
| D002780 | Cholestasis, Intrahepatic |
| C535933 | Cholestasis, progressive familial intrahepatic 1 |
| ID | Term |
|---|---|
| D002779 | Cholestasis |
| D001649 | Bile Duct Diseases |
| D001660 | Biliary Tract Diseases |
| D004066 | Digestive System Diseases |
| D008107 | Liver Diseases |
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