{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T21:15:18Z","timestamp":1789766118801,"version":"4.0.1"},"reference-count":28,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T00:00:00Z","timestamp":1761696000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:p>\n                    <jats:bold>Background:<\/jats:bold>\n                    Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare neurodegenerative disorder caused by\n                    <jats:italic toggle=\"yes\">CLN2<\/jats:italic>\n                    gene mutations, leading to ceroid lipofuscin accumulation and progressive neurodegeneration. Cerliponase alfa, a recombinant tripeptidyl peptidase-1, may improve aspects of disease progression, but common hypersensitivity and infusion reactions, along with a limited number of studies and lack of controlled trials, constrain the generalizability of these findings.\n                    <jats:bold>Purpose:<\/jats:bold>\n                    This systematic review and single-arm meta-analysis aims to evaluate the efficacy and safety of cerliponase alfa in treating children with CLN2.\n                    <jats:bold>Methods:<\/jats:bold>\n                    Following Cochrane and Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines, the protocol was registered in PROSPERO (CRD42024541000). We included prospective and retrospective cohorts of CLN2 patients treated with cerliponase alfa. A comprehensive search was conducted in PubMed, Embase, and Cochrane Central up to February 2024. Clinical outcomes and adverse effects were analyzed using a random effects model to compute pooled proportions with 95% CIs. Study quality was assessed with the Cochrane Risk of Bias tool for Non-randomized Studies.\n                    <jats:bold>Results:<\/jats:bold>\n                    From 318 records, 3 observational studies with 55 patients were included. A Clinical Rating Scale score of 0 or 1 was seen in 24% of patients. Generalized tonic-clonic seizures occurred in 41%, and dystonia in 15%. Adverse events included pyrexia (60%), hypersensitivity (82.6%), anaphylaxis (3%), and infusion-associated reactions (18.31%). Significant heterogeneity was observed.\n                    <jats:bold>Conclusion:<\/jats:bold>\n                    Cerliponase alfa may improve clinical outcomes in children with CLN2, though adverse effects might be prevalent.\n                  <\/jats:p>","DOI":"10.1177\/08830738251389180","type":"journal-article","created":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T17:13:13Z","timestamp":1761757993000},"page":"430-436","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Treatment of Neuronal Ceroid Lipofuscinosis Type 2 with Cerliponase Alfa: A Systematic Review and Single-Arm Meta-Analysis of Two Studies"],"prefix":"10.1177","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4704-2318","authenticated-orcid":false,"given":"Juliana Almeida","family":"Oliveira","sequence":"first","affiliation":[{"name":"Federal University of Minas Gerais"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Nabeel","family":"Saddique","sequence":"additional","affiliation":[{"name":"King Edward Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Qadri","sequence":"additional","affiliation":[{"name":"Jinnah Sindh Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima","family":"Shahid","sequence":"additional","affiliation":[{"name":"King Edward Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Clara Fonseca Souza","family":"de Jesus","sequence":"additional","affiliation":[{"name":"Faculdade de Minas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filipe Pereira","family":"Sarmento","sequence":"additional","affiliation":[{"name":"University of Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,10,29]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01054.x"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420422"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780199590018.003.0023"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-973654"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1517\/21678707.2014.935762"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2017.01.034"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/62.1.1"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2004.tb00499.x"},{"key":"e_1_3_2_10_2","first-page":"1","volume-title":"Advances in Genetics","author":"Wisniewski KE","year":"2001","unstructured":"Wisniewski KE, Kida E, Golabek AA, et al. Neuronal ceroid lipofuscinoses: classification and diagnosis. In: Advances in Genetics. Elsevier; 2001:1-34. Accessed May 28, 2024. https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0065266001450024."},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000267885.47092.40"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0043-1761434"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01813-5"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/s40265-017-0771-8"},{"key":"e_1_3_2_15_2","unstructured":"BioMarin Pharmaceutical. BRINEURA (cerliponase alfa): US prescribing information. 2017. Accessed May 28 2024. http:\/\/www.accessdata.fda.gov\/drugsatfda_docs\/label\/2017\/761052lbl.pdf."},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(23)00384-8"},{"key":"e_1_3_2_17_2","volume-title":"eds. Cochrane Handbook for Systematic Reviews of Interventions","author":"Higgins J","year":"2023","unstructured":"Higgins J, Thomas J, Chandler J, et al. eds. Cochrane Handbook for Systematic Reviews of Interventions. Cochrane; 2023. Accessed February 27, 2024. https:\/\/training.cochrane.org\/handbook\/current."},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.n71"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2020.12.002"},{"key":"e_1_3_2_20_2","unstructured":"Canadian Agency for Drugs and Technologies in Health. Clinical review report: cerliponase alfa (Brineura): Biomarin Pharmaceutical (Canada) Inc.: indication: for the treatment of neuronal ceroid lipofuscinosis type 2 (CLN2) disease validity of outcome measures. 2019. Accessed May 28 2024. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK544808\/."},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1177\/2326409818788382"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2018.09.003"},{"key":"e_1_3_2_23_2","unstructured":"European Medicines Agency. Cerliponase alfa (Brineura): summary of product characteristics. 2017. Accessed May 28 2024. http:\/\/ec.europa.eu\/health\/documents\/community-register\/2017\/20170530137963\/anx_137963_en.pdf."},{"key":"e_1_3_2_24_2","unstructured":"Conitec. Lipofuscinose ceroide neuronal tipo 2 - relat\u00f3rio de recomenda\u00e7\u00e3o: protocolos cl\u00ednicos e diretrizes terap\u00eauticas. Minist\u00e9rio da Sa\u00fade; 2022. Accessed May 28 2024. https:\/\/www.gov.br\/conitec\/pt-br\/midias\/relatorios\/2022\/20221031_pcdt_cln2_-cp72.pdf."},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1059-1311(03)00163-8"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-005-0024-x"},{"key":"e_1_3_2_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.07.011"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2022.06.014"},{"key":"e_1_3_2_29_2","doi-asserted-by":"publisher","DOI":"10.1097\/ACI.0b013e3283036a90"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251389180","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/08830738251389180","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251389180","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:42:02Z","timestamp":1777495322000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738251389180"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,29]]},"references-count":28,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["10.1177\/08830738251389180"],"URL":"https:\/\/doi.org\/10.1177\/08830738251389180","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,29]]}}}