Cholestasis, progressive familial intrahepatic, 5
MONDO:0014884Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene.
Also known as: NR1H4 deficiency, NR1H4 progressive familial intrahepatic cholestasis, PFIC5, cholestasis, progressive familial intrahepatic, 5, cholestasis, progressive familial intrahepatic, 5; PFIC5, cholestasis, progressive familial intrahepatic, type 5, progressive familial intrahepatic cholestasis caused by mutation in NR1H4
9 clinical trials for this condition and its sub-types, 1 tagged with Cholestasis, progressive familial intrahepatic, 5 itself.
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Promising long-term results for rare liver disease drug in kids
Disease control CompletedThis study looked at the long-term safety and effectiveness of a drug called A4250 (odevixibat) in 116 children with progressive familial intrahepatic cholestasis (PFIC), a rare liver disease. The children took the drug for up to 72 weeks. The study measured changes in bile acid …
Phase 3 • Sponsor: Albireo, an Ipsen Company • Aim: Disease control
Last updated Sep 05, 2026 00:00 UTC
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New imaging tool aims to sharpen bile duct diagnosis
Diagnosis CompletedThis completed study tested a device called NvisionVLE® that helps doctors see bile duct details during a procedure called ERCP. Only 3 adults who had the procedure between 2017 and 2019 took part. The goal was to check if the device is safe and can better find abnormalities to g…
Sponsor: Methodist Health System • Aim: Diagnosis
Last updated Jun 27, 2026 12:00 UTC