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
8 clinical trials for this condition and its sub-types.
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Special milk powder aimed to help sick infants – but study never started
Disease control TerminatedThis study planned to test whether a milk powder rich in medium-chain fatty acids could improve nutrition and health in infants with cholestatic liver disease. Researchers aimed to compare the special formula to regular milk powder in 64 infants under 6 months old. However, the s…
Phase: NA • Sponsor: Children's Hospital of Fudan University • Aim: Disease control
Last updated Jun 26, 2026 17:00 UTC
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Tiny blood cells may reveal clues about liver disease in kids
Knowledge-focused OngoingThis pilot study looks at red blood cells in 20 children with cholestatic liver disease and compares them to healthy children. Researchers use a special test called ektacytometry to measure how fragile and flexible the red blood cells are. The goal is to see if liver problems cha…
Sponsor: Children's Hospital Medical Center, Cincinnati • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:02 UTC