Odevixibat therapy in progressive familial intrahepatic cholestasis with MYO5B variants: a retrospective case series

• DOI: 10.1186/s13023-025-03728-x
• Publication Date: 2025-05-12T12:43:55Z
• Authors: Bertrand Roquelaure; Marco Sciveres; Tassos Grammatiko...; Eberhard Lurz; Folke Freudenberg; Dalila Habes; Lionel Thevathasan; Fatine Elaraki; Emmanuel Gonzales
• Keywords: Ursodeoxycholic acid; Enterohepatic circulation; Refractory (planetary science); Liver disease

Abstract Background and rationale Progressive familial intrahepatic cholestasis (PFIC) associated with myosin 5B deficiency is a rare liver disease characterised by elevated serum bile acids (sBAs) severe pruritus. The objective of this study was to evaluate treatment the ileal acid transporter inhibitor odevixibat in affected children. Methods This retrospective analysis five children diagnosis PFIC pruritus refractory rifampicin ursodeoxycholic acid, starting (37.2–120 µg/kg.day) between 15 months 10 years age. Clinical laboratory data were collected regularly, including biochemistry history. Pruritus sleep disorders rated on four-point Likert scale (absent, mild, moderate or severe). Results In year before odevixibat, all patients presented Four had disturbances. One patient history microvillus inclusion parenterally fed during his first life. prior initiating sBA levels > 150 µmol/L total bilirubin 25 patients. Within six after normalised < fell µmol/L. Bilirubin remained mostly normal throughout period (from 22 39 months) four disturbances improved three disappeared completely two patients, compliance access limited, which may explain fluctuations response. one patient, discontinued following an episode infectious gastroenteritis leading rise symptom recurrence did not respond reinitiation. Digestive tolerability good; no new worsening gastrointestinal symptoms observed any child. Conclusion case series indicates that effective 5B-related encourages further research into utility medication forms PFIC.