progressive familial intrahepatic cholestasis
Information
- Disease name
- progressive familial intrahepatic cholestasis
- Disease ID
- DOID:0070221
- Description
- "An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15239083, url:https\://www.ncbi.nlm.nih.gov/pubmed/8014759]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03659916 | Active, not recruiting | Phase 3 | Long Term Safety & Efficacy Study Evaluating The Effect of A4250 in Children With PFIC | September 28, 2018 | March 31, 2025 |
| NCT04729751 | Active, not recruiting | Phase 2 | A Study to Evaluate the Safety and Tolerability of Maralixibat in Infant Participants With Cholestatic Liver Diseases Including Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille Syndrome (ALGS). | September 9, 2021 | December 2024 |
| NCT04483531 | Approved for marketing | Odevixibat for the Treatment of Progressive Familial Intrahepatic Cholestasis | |||
| NCT03082937 | Completed | Phase 1 | An Open Label, Single-dose, Single Period ADME Study of A4250 in Healthy Subjects | January 31, 2017 | March 8, 2017 |
| NCT02131623 | Completed | Validation of the Itch Reported Outcome (ItchRO) Diaries in Pediatric Cholestatic Liver Disease | July 2014 | March 2015 | |
| NCT02963077 | Completed | Phase 1 | A Safety and Pharmakokinetic Study of A4250 Alone or in Combination With A3384 | July 2013 | May 2014 |
| NCT03930810 | Enrolling by invitation | NAtural Course and Prognosis of PFIC and Effect of Biliary Diversion | January 26, 2017 | January 1, 2032 | |
| NCT05704517 | Recruiting | Progressive Familial Intrahepatic Cholestasis in Indian Children - Establishing an Indian PFIC Registry | January 28, 2023 | December 31, 2025 | |
| NCT05687474 | Recruiting | Baby Detect : Genomic Newborn Screening | September 1, 2022 | August 31, 2025 | |
| NCT04071197 | Unknown status | N/A | Gastrostomy-Biliary Diversion: Innovative Management for Bile Canalicular Transport Disorders | March 10, 2020 | April 1, 2021 |
- Disase is a (Disease Ontology)
- DOID:1852
- Cross Reference ID (Disease Ontology)
- MIM:PS211600
- Cross Reference ID (Disease Ontology)
- NCI:C84453
- Cross Reference ID (Disease Ontology)
- ORDO:172
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:74162007
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0268312
- Exact Synonym (Disease Ontology)
- PFIC; Byler disease
- OrphaNumber from OrphaNet (Orphanet)
- 172