{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T02:16:39Z","timestamp":1792030599997,"version":"4.4.0"},"reference-count":29,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,9,9]],"date-time":"2024-09-09T00:00:00Z","timestamp":1725840000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Mucopolysaccharidosis II (MPS II; Hunter syndrome; OMIM 309900) is a rare, X\u2010linked, heterogeneous lysosomal storage disease. Approximately two\u2010thirds of patients develop cognitive impairment, which is difficult to assess in clinical trials, partly owing to the variable nature of cognitive impairment. Analyzing data from siblings can help to minimize this heterogeneity. We report analyses of cognitive function from siblings with MPS II enrolled in clinical trials: a natural history study (NCT01822184), a randomized, open\u2010label, phase 2\/3 study of intravenous (IV) idursulfase with or without intrathecal idursulfase (idursulfase\u2010IT; NCT02055118), and its extension (NCT2412787). Cognitive function was assessed using Differential Abilities Scales, Second Edition General Conceptual Ability (DAS\u2010II GCA) scores; Bayley Scales of Infant and Toddler Development, Third Edition; and Vineland Adaptive Behavior Scales, Second Edition Adaptive Behavior Composite (VABS\u2010II ABC). Seven sets of siblings (six pairs and one set of three) were included. All patients received IV idursulfase and 10 received subsequent idursulfase\u2010IT. Younger siblings initiated IV idursulfase at an earlier age than their older sibling(s) in six of the sets; the younger sibling started treatment before 1\u2009year of age in three sets. Monthly idursulfase\u2010IT was generally associated with a stabilization of cognitive function: DAS\u2010II GCA and VABS\u2010II ABC scores were higher at age\u2010matched assessments in the majority of those who either received idursulfase\u2010IT earlier than their sibling or who received idursulfase\u2010IT versus no idursulfase\u2010IT. These data suggest that early initiation of intrathecal enzyme replacement therapy may stabilize or slow cognitive decline in some patients with neuronopathic MPS II.<\/jats:p>","DOI":"10.1002\/jimd.12790","type":"journal-article","created":{"date-parts":[[2024,9,10]],"date-time":"2024-09-10T02:54:58Z","timestamp":1725936898000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase\u2010\n                    <scp>IT<\/scp>\n                    on cognitive function in siblings with neuronopathic mucopolysaccharidosis\n                    <scp>II<\/scp>"],"prefix":"10.1002","volume":"48","author":[{"given":"Joseph","family":"Muenzer","sequence":"first","affiliation":[{"name":"University of North Carolina at Chapel Hill  Chapel Hill North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara K.","family":"Burton","sequence":"additional","affiliation":[{"name":"Ann &amp; Robert H. Lurie Children's Hospital of Chicago Northwestern University  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Harmatz","sequence":"additional","affiliation":[{"name":"UCSF Benioff Children's Hospital Oakland  Oakland California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis Gonz\u00e1lez","family":"Guti\u00e9rrez\u2010Solana","sequence":"additional","affiliation":[{"name":"Infant Jesus Children's Hospital  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matilde","family":"Ruiz\u2010Garcia","sequence":"additional","affiliation":[{"name":"National Institute of Pediatrics  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon A.","family":"Jones","sequence":"additional","affiliation":[{"name":"St Mary's Hospital, Manchester University NHS Foundation Trust University of Manchester  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Guffon","sequence":"additional","affiliation":[{"name":"Reference Centre for Inherited Metabolic Disorder Hospices Civils de Lyon  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michal","family":"Inbar\u2010Feigenberg","sequence":"additional","affiliation":[{"name":"University of Toronto  Toronto Ontario Canada"},{"name":"The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Drago","family":"Bratkovic","sequence":"additional","affiliation":[{"name":"Women's and Children's Hospital  North Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stewart","family":"Rust","sequence":"additional","affiliation":[{"name":"Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Hale","sequence":"additional","affiliation":[{"name":"Takeda Development Center Americas, Inc.  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