Alagille Syndrome

Real-world study of maralixibat for Alagille syndrome may inform expanded treatment population

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A real-world study assessed the use of maralixibat in children with Alagille syndrome who would not have been eligible for this treatment under clinical trial parameters and found that it effectively reduced pruritus from baseline.

The US Food and Drug Administration (FDA) approved maralixibat for the treatment of cholestatic pruritus in patients aged 3 months or older with Alagille syndrome. The clinical trials that resulted in the FDA approval contained strict eligibility criteria for participants; however, expanded access and post-marketing studies are assessing the drug’s efficacy and safety in a broader real-world environment.

The current reported study included 8 patients with Alagille syndrome who received maralixibat but would have been excluded from the clinical trials due to the following criteria:

  • Surgical biliary diversion
  • Reduction of antipruritic/cholestatic concomitant medications
  • Administration of medication through a gastrostomy or nasogastric tube
  • Use in patients under consideration for transplantation

In this cohort, maralixibat reduced pruritus from baseline levels and was well tolerated, consistent with clinical trial safety findings. Bilirubin levels did not increase in this cohort, although there were some liver enzyme elevations that the researchers interpreted as consistent with normal fluctuations observed in those with Alagille syndrome.

“Maralixibat may be effective and well tolerated in patients with Alagille syndrome in broader clinical contexts than previously reported,” the authors concluded.


Himes R, Rosenthal P, Dilwali N, et al. Real-world experience of maralixibat in Alagille syndrome: novel findings outside of clinical trials. J Pediatr Gastroenterol Nutr. 2024;78(3):506-513.

Rare Disease 360® is the Official Media Partner and Official Publication of The Alagille Syndrome Alliance (Alagille.org).

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