JPGN Reports · 3 authors, 3 centres
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A case report describes a child with Alagille syndrome who experienced complete resolution of cholestatic pruritus on maralixibat, with the response maintained for over 7 years and all other antipruritic medications successfully discontinued.
This case report describes a female child diagnosed with Alagille syndrome at 1 month of age due to a JAG1 mutation, who developed severe pruritus at 3 months refractory to UDCA, hydroxyzine, cholestyramine, and rifampin. At age 2, she enrolled in the ITCH randomized blinded trial and was found to be on placebo, with no improvement. After rolling into the open-label extension, she received maralixibat and showed significant pruritus reduction within 10 days, with ItchRO(Obs) reaching 0 by week 4. Over 7 years of therapy, she achieved a 4-point reduction in Clinician Scratch Scale from 4 to 0, discontinued all other antipruritic medications, and demonstrated growth improvement with height z-score increasing from −2.17 to −1.07. The findings suggest that complete and durable pruritus resolution with maralixibat may reduce medication burden and potentially obviate the need for liver transplant in some children with ALGS.
