The burden of Alagille syndrome: uncovering the potential of emerging therapeutics – a comprehensive systematic literature review
Aim: Alagille syndrome (ALGS) is a rare, cholestatic multiorgan disease associated with bile duct paucity, leading to cholestasis. Clinical symptoms of cholestasis include debilitating pruritus, xanthomas, fatsoluble vitamin deficiencies, growth failure, renal disease and impaired health-related q...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Becaris Publishing Limited
2025-01-01
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| Series: | Journal of Comparative Effectiveness Research |
| Subjects: | |
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| Summary: | Aim: Alagille syndrome (ALGS) is a rare, cholestatic multiorgan disease associated with bile duct paucity,
leading to cholestasis. Clinical symptoms of cholestasis include debilitating pruritus, xanthomas, fatsoluble
vitamin deficiencies, growth failure, renal disease and impaired health-related quality of life
(HRQoL). The main objective was to review the current literature on the epidemiological, clinical,
psychosocial and economic burden of ALGS in view of the development of ileal bile acid transporter
(IBAT) inhibitors. Methods: Electronic literature databases were searched in accordance with the Preferred
Reporting Items for Systematic Reviews and Meta-Analyses checklist. Results: 330 publications were
screened, 119 were relevant: 11 randomized controlled trials (RCTs), 21 non-RCTs, 10 HRQoL studies,
two studies assessing cost/resource use and 77 epidemiological studies across several databases through
31 July 2024. Studies confirm that patients with ALGS experience cardiac anomalies, impaired growth,
renal disease, poor HRQoL, fat-soluble vitamin deficiencies and debilitating pruritus; until the approval of
IBAT inhibitors for the treatment of cholestatic pruritus in patients with ALGS, supportive management
was the standard of care. Conclusion: This review confirms the substantial clinical, economic and HRQoL
burden associated with ALGS and consolidates current treatment evidence. Data from recent trials in ALGS
demonstrate the potential impact of IBAT inhibitors to transform lives by improving cholestatic pruritus
symptoms, HRQoL and native liver survival. |
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| ISSN: | 2042-6313 |