{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T05:52:26Z","timestamp":1790661146872,"version":"4.1.0"},"reference-count":100,"publisher":"Becaris Publishing Limited","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. Comp. Eff. Res."],"abstract":"<jats:p>\n                    <jats:bold>Aim:<\/jats:bold>\n                    Progressive familial intrahepatic cholestasis (PFIC) comprises a group of rare, heterogeneous genetic liver disorders characterized by impaired bile formation and cholestasis. Historically, treatment focused on supportive management and symptomatic relief, but disease-specific therapies, including ileal bile acid transporter inhibitors, have recently become available. This systematic review updates previous evidence on the epidemiology, natural history, psychosocial and economic burden of PFIC, and summarizes evidence on the efficacy, safety and cost-effectiveness of therapies used primarily in patients with PFIC type 2 (bile salt export pump [BSEP] deficiency).\n                    <jats:bold>Materials &amp; m<\/jats:bold>\n                    <jats:bold>ethods:<\/jats:bold>\n                    Twenty-seven databases and supplementary literature sources were searched in February 2021 and updated in January 2025. Studies were selected to address five review questions. Due to substantial heterogeneity in study populations, PFIC subtypes, outcome definitions and study designs, findings were synthesized narratively.\n                    <jats:bold>Results:<\/jats:bold>\n                    A total of 114 publications were included. Findings relating to epidemiology, natural history, psychosocial burden and economic burden were broadly consistent with previous reviews and highlighted the substantial impact of PFIC on children and their caregivers. Many patients treated with maralixibat and odevixibat demonstrated improvements in pruritus, serum bile acid concentrations, quality of life and markers of liver health, particularly those with PFIC2\/BSEP deficiency. However, treatment responses varied across studies and genotypes, and long-term data remain limited. Only a small amount of economic evidence was identified.\n                    <jats:bold>Conclusion:<\/jats:bold>\n                    PFIC is associated with significant clinical and psychosocial burden. Ileal bile acid transporter inhibitors provide a novel, targeted, nonsurgical treatment option for many patients: current evidence supports improvements in pruritus and serum bile acid control, particularly in PFIC2\/BSEP deficiency; however, treatment responses are heterogeneous and additional long-term clinical and economic evidence is needed.\n                  <\/jats:p>","DOI":"10.57264\/cer-2026-0047","type":"journal-article","created":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T15:06:53Z","timestamp":1787152013000},"source":"Crossref","is-referenced-by-count":1,"title":["Progressive familial intrahepatic cholestasis disease burden and clinical approaches: a systematic review"],"prefix":"10.57264","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5949-7363","authenticated-orcid":false,"given":"Simon P","family":"Horslen","sequence":"first","affiliation":[{"name":"UPMC Children\u2019s Hospital of Pittsburgh, Pittsburgh, PA 15224, USA"},{"name":"University of Pittsburgh, Pittsburgh, PA 15261, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2515-4490","authenticated-orcid":false,"given":"Georg","family":"Vogel","sequence":"additional","affiliation":[{"name":"Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria"},{"name":"Institute of Cell Biology, Medical University of Innsbruck, Innsbruck, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-0315-3383","authenticated-orcid":false,"given":"Jolan","family":"Terner-Rosenthal","sequence":"additional","affiliation":[{"name":"Mirum Pharmaceuticals, Inc. Foster City, CA 94404, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadav","family":"Zadok","sequence":"additional","affiliation":[{"name":"Mirum Pharmaceuticals, Inc. 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