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Future Therapeutic Approaches for Alagille Syndrome

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Alagille Syndrome

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Abstract

Disease phenomena in Alagille syndrome range from bile duct paucity to cardiac defects, kidney disease, and bone weakness. Current treatments focus on ensuring nutrition and managing symptoms such as pruritus and in some cases liver and/or heart transplantation. In this chapter, future potential therapies or cures for Alagille syndrome are discussed, as well as state-of-the-art systems for drug discovery.

Future potential strategies range from treatment of disease outcomes (replacing and/or repairing missing cells or organs with stem cells or bioengineered organs) to directly correcting the underlying Notch pathway dysregulation to ensure proper development of the organs to begin with (correcting hypomorphic Notch signaling). Drawing on recent advances in the field, this chapter describes Notch activation or inhibition peptides, gene manipulation techniques, advances in stem cell biology, and our improved understanding of endogenous reparative mechanisms. These putative therapeutic possibilities hold great potential for Alagille syndrome and are also highly translatable to other disease states in which the liver or heart is compromised.

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Conflict of Interest

ER Andersson has a project funded by Moderna Therapeutics. The funder had no role or influence in the writing of this chapter.

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    Emma R. Andersson

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  2. Division of Gastroenterology, Hepatology and Nutrition, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Kathleen M. Loomes

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Andersson, E.R. (2018). Future Therapeutic Approaches for Alagille Syndrome. In: Kamath, B., Loomes, K. (eds) Alagille Syndrome. Springer, Cham. https://doi.org/10.1007/978-3-319-94571-2_12

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