{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T22:16:16Z","timestamp":1790806576955,"version":"4.1.0"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,3,7]],"date-time":"2024-03-07T00:00:00Z","timestamp":1709769600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,3,7]],"date-time":"2024-03-07T00:00:00Z","timestamp":1709769600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare X-linked metabolic disorder predominantly affecting males. Pabinafusp alfa, an iduronate-2-sulfatase enzyme designed to cross the blood-brain barrier, was approved in Japan in 2021 as the first enzyme replacement therapy targeting both the neuropathic and somatic signs and symptoms of MPS II. This study reports caregivers\u2019 experiences of MPS II patients receiving pabinafusp alfa through qualitative interviews.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Semi-structured, qualitative interviews were conducted with caregivers at seven clinical sites in Japan using a semi-structured moderation guide (Voice of the Caregiver guide). Thematic analysis was applied to the interview transcripts to identify symptoms and health-related quality of life impacts at baseline, changes during treatment, and overall treatment experience.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Seven caregivers from 16 trial sites participated, representing seven children aged 8\u201318 years who had received pabinafusp alfa for 3.3\u20133.5 years at the time of the interviews. Data suggest a general trend toward improvement in multiple aspects, although not all caregivers observed discernible changes. Reported cognitive improvements included language skills, concentration, self-control, eye contact, mental clarity, concept understanding, following instructions, and expressing personal needs. Further changes were reported that included musculoskeletal improvements and such somatic changes as motor function, mobility, organ involvement, joint mobility, sleep patterns, and fatigue. Four caregivers reported improvements in family quality of life, five expressed treatment satisfaction, and all seven indicated a strong willingness to continue treatment of their children with pabinafusp alfa.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Caregivers\u2019 perspectives in this study demonstrate treatment satisfaction and improvement in various aspects of quality of life following therapy with pabinafusp alfa. These findings enhance understanding of pabinafusp alfa\u2019s potential benefits in treating MPS II and contribute to defining MPS II-specific outcome measures for future clinical trials.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-024-03112-1","type":"journal-article","created":{"date-parts":[[2024,3,7]],"date-time":"2024-03-07T14:01:54Z","timestamp":1709820114000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in Japan"],"prefix":"10.1186","volume":"19","author":[{"given":"Kimitoshi","family":"Nakamura","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norio","family":"Sakai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6598-7403","authenticated-orcid":false,"given":"Mohammad Arif","family":"Hossain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie B","family":"Eisengart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuyoshi","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazunori","family":"Tanizawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sairei","family":"So","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathias","family":"Schmidt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuji","family":"Sato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,3,7]]},"reference":[{"key":"3112_CR1","unstructured":"Neufeld EF, Muenzer J. The Mucopolysaccharidoses. In: Scriver CF, Beaudet AL, Sly WS, Valle D, et al. The Metabolic and Molecular Bases of Inherited Disease, 8th ed. New York, NY: McGraw-Hill; 2001. p.3421\u201352."},{"key":"3112_CR2","unstructured":"Tanaka A. Mucopolysaccharidosis II. Inborn errors of metabolism (2nd edition) Tokyo: Nippon Rinsho; 2012. 533\u20138."},{"key":"3112_CR3","doi-asserted-by":"publisher","first-page":"1258","DOI":"10.3390\/ijms21041258","volume":"21","author":"F D\u2019Avanzo","year":"2020","unstructured":"D\u2019Avanzo F, Rigon L, Zanetti A, Tomanin R. Mucopolysaccharidosis type II: one hundred years of Research, diagnosis, and treatment. Int J Mol Sci. 2020;21:1258.","journal-title":"Int J Mol Sci"},{"key":"3112_CR4","unstructured":"Genetic and Rare Diseases Information Center. Mucopolysaccharidosis type II. 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Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study. Orphanet J Rare Dis. 2022;17:448.","journal-title":"Orphanet J Rare Dis"},{"key":"3112_CR18","doi-asserted-by":"publisher","first-page":"100669","DOI":"10.1016\/j.ymgmr.2020.100669","volume":"25","author":"MJ Hogan","year":"2020","unstructured":"Hogan MJ, Stephens K, Smith E, Jalazo ER, Hendriksz CJ, Edwards LJ, Bjoraker KJ. Toileting Abilities Survey as a surrogate outcome measure for cognitive function: findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase. Mol Genet Metab Rep. 2020;25:100669.","journal-title":"Mol Genet Metab Rep"},{"key":"3112_CR19","doi-asserted-by":"crossref","unstructured":"Joffe H, Yardley L. Content and thematic analysis. In. D. Marks and L. Yardley (eds) Research Methods for Clinical and Health Psychology. 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The study was performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments..","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Informed consent was obtained from all individual caregivers in the study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"KN declares speakers\u2019 bureau fees from Sanofi, Takeda, and JCR Pharmaceuticals, as well as research funding from Sanofi, Takeda, and KM Biologics. NS reports speakers\u2019 bureau fees from Amicus Therapeutics, Takeda, JCR Pharmaceuticals, and Sanofi, as well as research funding from JCR and Sanofi. JBE reports honoraria, advisory board fees, consulting fees, and\/or research support from Actigen, Denali, JCR, Lysogene, Novel Pharma, Orchard Therapeutics, Regenxbio, Sanofi Genzyme, Sobi, and Takeda. MAH, TY, KT, SS, MS, and YS are employees of JCR Pharmaceuticals, Ltd.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"104"}}