Cholestasis, progressive familial intrahepatic, 4
MONDO:0014381Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene.
Also known as: PFIC4, TJP2 deficit, TJP2 progressive familial intrahepatic cholestasis, cholestasis, progressive familial intrahepatic, 4, cholestasis, progressive familial intrahepatic, type 4, progressive familial intrahepatic cholestasis caused by mutation in TJP2, progressive familial intrahepatic cholestasis type 4, cholestasis, progressive familial intrahepatic 4
9 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
-
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
-
New drug shows promise for rare liver disease itch
Symptom relief CompletedThis study tested a drug called TAK-625 (maralixibat) in 5 Japanese children with progressive familial intrahepatic cholestasis (PFIC), a rare liver disease that causes severe itching. The main goal was to see if the drug reduces itching over 26 weeks. Researchers also checked sa…
Phase: PHASE3 • Sponsor: Takeda • Aim: Symptom relief
Last updated Jun 27, 2026 09:00 UTC