Progressive familial intrahepatic cholestasis type 2
MONDO:0011156Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.
Also known as: ABCB11 progressive familial intrahepatic cholestasis, BSEP deficiency, PFIC2, cholestasis, progressive familial intrahepatic 2, cholestasis, progressive familial intrahepatic, type 2, progressive familial intrahepatic cholestasis caused by mutation in ABCB11, progressive familial intrahepatic cholestasis type 2, cholestasis, progressive familial intrahepatic, 2
11 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