{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T21:03:13Z","timestamp":1790370193404,"version":"4.1.0"},"reference-count":44,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T00:00:00Z","timestamp":1787616000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2026,9]]},"DOI":"10.1016\/j.ymgme.2026.110243","type":"journal-article","created":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T23:38:59Z","timestamp":1787269139000},"page":"110243","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Interim analysis of post-marketing surveillance study of intracerebroventricular idursulfase therapy for neuronopathic mucopolysaccharidosis type II: Safety and effectiveness in clinical practice in Japan"],"prefix":"10.1016","volume":"149","author":[{"given":"Motomichi","family":"Kosuga","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsumin","family":"So","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasutsugu","family":"Chinen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shungo","family":"Okamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tokiko","family":"Fukuda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eiichi","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Azuma","family":"Ikari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadayuki","family":"Kumagai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ikuma","family":"Musha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasunori","family":"Wada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshihiko","family":"Kakiuchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Ueda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyoshi","family":"Egawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Yamada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahoko","family":"Furujo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumito","family":"Dateki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Nakajima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoko","family":"Ozawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Torayuki","family":"Okuyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2026.110243_bb0005","doi-asserted-by":"crossref","first-page":"2134","DOI":"10.1073\/pnas.70.7.2134","article-title":"The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase","volume":"70","author":"Bach","year":"1973","journal-title":"Proc. Natl. Acad. Sci. U. S. A"},{"key":"10.1016\/j.ymgme.2026.110243_bb0010","series-title":"McKusick\u2019s Heritable Disorders of Connective Tissue","author":"Beighton","year":"1993"},{"key":"10.1016\/j.ymgme.2026.110243_bb0015","author":"OMIM"},{"key":"10.1016\/j.ymgme.2026.110243_bb0020","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1007\/s00431-007-0635-4","article-title":"Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy","volume":"167","author":"Wraith","year":"2008","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ymgme.2026.110243_bb0025","series-title":"The Metabolic Basis of Inherited Disease","author":"Scriver","year":"1989"},{"key":"10.1016\/j.ymgme.2026.110243_bb0030","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1038\/s41436-020-0909-z","article-title":"Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG)","volume":"22","author":"McBride","year":"2020","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2026.110243_bb0035","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.ymgme.2017.05.016","volume":"121","author":"Khan","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2026.110243_bb0040","series-title":"Mucopolysaccharidoses UPDATE","author":"Ida","year":"2011"},{"key":"10.1016\/j.ymgme.2026.110243_bb0045","doi-asserted-by":"crossref","DOI":"10.1186\/s40246-024-00701-w","article-title":"Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants","volume":"18","author":"Zanetti","year":"2024","journal-title":"Hum. Genomics"},{"key":"10.1016\/j.ymgme.2026.110243_bb0050","series-title":"Practical Guideline for the Management of Mucopolysaccharidosis (MPS) Type II 2019","author":"Japanese Society for Inherited metabolic Diseases","year":"2019"},{"key":"10.1016\/j.ymgme.2026.110243_bb0055","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.omtm.2021.02.018","article-title":"Impact of intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II","volume":"21","author":"Seo","year":"2021","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"10.1016\/j.ymgme.2026.110243_bb0060","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.ymgme.2009.08.006","article-title":"Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II)","volume":"99","author":"Okuyama","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2026.110243_bb0065","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1097\/01.gim.0000232477.37660.fb","article-title":"A phase II\/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)","volume":"8","author":"Muenzer","year":"2006","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2026.110243_bb0070","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1080\/21678707.2017.1296761","article-title":"Presentation and treatments for mucopolysaccharidosis type II (MPS II; Hunter syndrome)","volume":"5","author":"Stapleton","year":"2017","journal-title":"Expert Opin. Orphan Drugs"},{"key":"10.1016\/j.ymgme.2026.110243_bb0075","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1007\/s40259-024-00675-0","article-title":"Targeting neurological aspects of mucopolysaccharidosis type II: enzyme replacement therapy and beyond","volume":"38","author":"Zanetti","year":"2024","journal-title":"BioDrugs"},{"key":"10.1016\/j.ymgme.2026.110243_bb0080","first-page":"65","article-title":"Enzymatic replacement therapy for Hunter disease: up to 9 years experience with 17 patients","volume":"3","author":"Parini","year":"2015","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ymgme.2026.110243_bb0085","doi-asserted-by":"crossref","DOI":"10.3390\/ijms222010938","article-title":"Enzyme replacement therapy with pabinafusp alfa for neuronopathic mucopolysaccharidosis II: an integrated analysis of preclinical and clinical data","volume":"22","author":"Giugliani","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.ymgme.2026.110243_bb0090","first-page":"103","article-title":"Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment","volume":"5","author":"Hendriksz","year":"2015","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ymgme.2026.110243_bb0095","doi-asserted-by":"crossref","first-page":"1853","DOI":"10.1016\/j.ymthe.2021.01.027","article-title":"Clearance of heparan sulfate in the brain prevents neurodegeneration and neurocognitive impairment in MPS II mice","volume":"29","author":"Morimoto","year":"2021","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymgme.2026.110243_bb0100","doi-asserted-by":"crossref","first-page":"e1258","DOI":"10.1542\/peds.2010-1274","article-title":"Natural progression of neurological disease in mucopolysaccharidosis type II","volume":"127","author":"Holt","year":"2011","journal-title":"Pediatrics"},{"key":"10.1016\/j.ymgme.2026.110243_bb0105","article-title":"Case report of neuronopathic mucopolysaccharidosis type II: early intracerebroventricular enzyme replacement therapy and hematopoietic cell transplantation with developmental outcomes up to 5 years of age","volume":"45","author":"Ikari","year":"2025","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ymgme.2026.110243_bb0110","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1016\/j.ymthe.2018.02.032","article-title":"A blood-brain-barrier-penetrating anti-human transferrin receptor antibody fusion protein for neuronopathic mucopolysaccharidosis II","volume":"26","author":"Sonoda","year":"2018","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymgme.2026.110243_bb0115","series-title":"IZCARGO for I.V. Infusion 10mg: Package Insert, Pabinafusp Alfa (Genetically Recombinant) for Intravenous Infusion - Mucopolysaccharidosis Type II Treatment","author":"L. JCR Pharma Co.","year":"2024"},{"key":"10.1016\/j.ymgme.2026.110243_bb0120","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1016\/j.ymthe.2018.12.005","article-title":"Iduronate-2-sulfatase with anti-human transferrin receptor antibody for neuropathic mucopolysaccharidosis II: a phase 1\/2 trial","volume":"27","author":"Okuyama","year":"2019","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymgme.2026.110243_bb0125","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1016\/j.ymthe.2020.09.039","article-title":"A phase 2\/3 trial of pabinafusp alfa, IDS fused with anti-human transferrin receptor antibody, targeting neurodegeneration in MPS-II","volume":"29","author":"Okuyama","year":"2021","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymgme.2026.110243_bb0130","series-title":"Hunterase\u00ae (Idursulfase Beta, Recombinant) Intracerebroventricular Injection 15 Mg Package Insert","author":"Clinigen KK","year":"2022"},{"key":"10.1016\/j.ymgme.2026.110243_bb0135","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1038\/jhg.2016.133","article-title":"Comparative study of idursulfase beta and idursulfase in vitro and in vivo","volume":"62","author":"Kim","year":"2017","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2026.110243_bb0140","doi-asserted-by":"crossref","first-page":"2467","DOI":"10.2147\/DDDT.S139601","article-title":"Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future","volume":"11","author":"Whiteman","year":"2017","journal-title":"Drug Des. Dev. Ther."},{"key":"10.1016\/j.ymgme.2026.110243_bb0145","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1186\/1750-1172-8-42","article-title":"Phase I\/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome)","volume":"8","author":"Sohn","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2026.110243_bb0150","doi-asserted-by":"crossref","first-page":"1603","DOI":"10.1007\/s00381-023-06265-9","article-title":"Ommaya reservoir placement using ultrasound guidance via anterior fontanelle combined with frameless electromagnetic neuronavigation in patients with mucopolysaccharidosis type 2: case reports and review of the literature","volume":"40","author":"Mizushima","year":"2024","journal-title":"Childs Nerv. Syst."},{"key":"10.1016\/j.ymgme.2026.110243_bb0155","doi-asserted-by":"crossref","DOI":"10.1016\/j.ymgme.2023.107709","article-title":"Intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II: final report of 5-year results from a Japanese open-label phase 1\/2 study","volume":"140","author":"Seo","year":"2023","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2026.110243_bb0160","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1016\/j.cca.2012.01.012","article-title":"An improved method for glycosaminoglycan analysis by LC-MS\/MS of urine samples collected on filter paper","volume":"413","author":"Auray-Blais","year":"2012","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2026.110243_bb0165","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1373\/clinchem.2010.161141","article-title":"Analysis of glycosaminoglycans in cerebrospinal fluid from patients with mucopolysaccharidoses by isotope-dilution ultra-performance liquid chromatography-tandem mass spectrometry","volume":"57","author":"Zhang","year":"2011","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ymgme.2026.110243_bb0170","series-title":"The Guide of Kyoto Scale of Psychological Development 2001","author":"Ikuzawa","year":"2001"},{"key":"10.1016\/j.ymgme.2026.110243_bb0175","article-title":"Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): contribution of genotype to cognitive developmental course","volume":"24","author":"Seo","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ymgme.2026.110243_bb0180","doi-asserted-by":"crossref","DOI":"10.1038\/cddis.2013.430","article-title":"Murine neural stem cells model Hunter disease in vitro: glial cell-mediated neurodegeneration as a possible mechanism involved","volume":"4","author":"Fusar Poli","year":"2013","journal-title":"Cell Death Dis."},{"key":"10.1016\/j.ymgme.2026.110243_bb0185","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1186\/s13023-025-03848-4","article-title":"Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy","volume":"20","author":"Onuki","year":"2025","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2026.110243_bb0190","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.ymgme.2016.05.003","article-title":"Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: genetic, pathological, and structural studies on iduronate-2-sulfatase","volume":"118","author":"Kosuga","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2026.110243_bb0195","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1080\/14740338.2020.1751120","article-title":"Safety and efficacy of idursulfase in the treatment of mucopolysaccharidosis II (Hunter syndrome): a post-marketing study in Japan","volume":"19","author":"Ueda","year":"2020","journal-title":"Expert Opin. Drug Saf."},{"key":"10.1016\/j.ymgme.2026.110243_bb0200","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1186\/s13023-015-0265-2","article-title":"Immunogenicity of idursulfase and clinical outcomes in very young patients (16 months to 7.5 years) with mucopolysaccharidosis II (Hunter syndrome)","volume":"10","author":"Pano","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2026.110243_bb0205","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2020.01000","article-title":"Immune modulation for enzyme replacement therapy in a female patient with Hunter syndrome","volume":"11","author":"Julien","year":"2020","journal-title":"Front. Immunol."},{"key":"10.1016\/j.ymgme.2026.110243_bb0210","doi-asserted-by":"crossref","DOI":"10.3390\/biomedicines11061668","article-title":"Diagnosis and management of mucopolysaccharidosis type II (Hunter syndrome) in Poland","volume":"11","author":"Zuber","year":"2023","journal-title":"Biomedicines"},{"key":"10.1016\/j.ymgme.2026.110243_bb0215","first-page":"120","article-title":"Enzyme replacement therapy: efficacy and limitations Ital","volume":"44","author":"Concolino","year":"2018","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2026.110243_bb0220","article-title":"Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan","volume":"37","author":"Hattori","year":"2023","journal-title":"Mol. Genet. Metab. Rep."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719226005263?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719226005263?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T20:37:06Z","timestamp":1790368626000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719226005263"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":44,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["S1096719226005263"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2026.110243","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Interim analysis of post-marketing surveillance study of intracerebroventricular idursulfase therapy for neuronopathic mucopolysaccharidosis type II: Safety and effectiveness in clinical practice in Japan","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2026.110243","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"110243"}}