{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T13:08:33Z","timestamp":1793452113671,"version":"4.5.0"},"reference-count":71,"publisher":"Oxford University Press (OUP)","issue":"15","license":[{"start":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T00:00:00Z","timestamp":1713398400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100013220","name":"Ultragenyx Pharmaceutical Inc","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013220","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,11,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>Homozygous familial hypercholesterolaemia (HoFH) is a rare disorder characterized by markedly elevated circulating low-density lipoprotein cholesterol (LDL-C) from birth. This review aimed to critically evaluate treatments for HoFH with respect to their efficacy, safety, accessibility, overall context and position within the treatment pathway.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>A mixed-methods review was undertaken to systematically identify and characterize primary interventional studies on HoFH, with a focus on LDL-C reduction as the primary outcome. Interventions assessed were ezetimibe, proprotein convertase subtilisin\/kexin type 9 inhibitors (PCSK9i), lomitapide, evinacumab, with or without LDL apheresis. Twenty-six seminal studies reporting unique patient data were identified. Four studies were randomized controlled trials (RCTs) with the remainder being single-arm trials or observational registries. Data extracted were heterogeneous and not suitable for meta-analyses. Two RCTs, assessed at being low risk of bias, demonstrated PCSK9i were safe and moderately effective. A randomized controlled trial (RCT) demonstrated evinacumab was safe and effective in all HoFH subgroups. Lomitapide was reported to be efficacious in a single-arm trial, but issues with adverse events, tolerability, and adherence were identified. An RCT on ezetimibe showed it was moderately effective when combined with a statin. LDL apheresis was reported as effective, but its evidence base was at very high risk of bias. All interventions lowered LDL-C, but the magnitude of this, and certainty in the supporting evidence, varied.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>In practice, multiple treatments are required to treat HoFH. The sequencing of these should be made on an individualized basis, with consideration made to the benefits of each intervention.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/eurjpc\/zwae144","type":"journal-article","created":{"date-parts":[[2024,4,16]],"date-time":"2024-04-16T20:57:08Z","timestamp":1713301028000},"page":"1833-1849","source":"Crossref","is-referenced-by-count":28,"title":["Current treatments for the management of homozygous familial hypercholesterolaemia: a systematic review and commentary"],"prefix":"10.1093","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5735-8482","authenticated-orcid":false,"given":"Jing","family":"Gu","sequence":"first","affiliation":[{"name":"Regeneron Pharmaceuticals, Inc , Global Medical Affairs, 777 Old Saw Mill River Road, Tarrytown, NY 10591 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rupal N","family":"Gupta","sequence":"additional","affiliation":[{"name":"Ultragenyx Pharmaceutical Inc , Global Medical Affairs, 60 Leveroni Court, Novato, CA 94949 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry K","family":"Cheng","sequence":"additional","affiliation":[{"name":"Ultragenyx Pharmaceutical Inc , Global Medical Affairs, 60 Leveroni Court, Novato, CA 94949 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingxin","family":"Xu","sequence":"additional","affiliation":[{"name":"Regeneron Pharmaceuticals, Inc , Global Medical Affairs, 777 Old Saw Mill River Road, Tarrytown, NY 10591 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9170-7938","authenticated-orcid":false,"given":"Frederick J","family":"Raal","sequence":"additional","affiliation":[{"name":"Department of Medicine, Faculty of Health Sciences, University of the Witwatersrand , 7 York Road, Parktown, Johannesburg 2193 ,","place":["South 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