{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T15:27:13Z","timestamp":1791214033573,"version":"4.1.0"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,1,24]],"date-time":"2025-01-24T00:00:00Z","timestamp":1737676800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,1,24]],"date-time":"2025-01-24T00:00:00Z","timestamp":1737676800000},"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 (MPS) are a group of lysosomal storage diseases with substantial unmet medical needs\u2014for both patients and caregivers. Approved therapies are limited, and the perception of investigative ones remains enigmatic.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Method<\/jats:title>\n            <jats:p>Using an innovative survey concept based on the discrete choice experiment method (DEC) with neuronopathic and non-neuronopathic patient scenarios, we aimed to evaluate how parents of children with MPS perceive different approved and innovative therapies. The questionnaire was distributed via patient organizations in Germany, Switzerland, and Austria.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Most likely parents would choose an approach to repurposed treatments for their child (neuronopathic: 82%, 14\/17 and non-neuronopathic: 94%, 16\/17), followed by enzyme replacement therapy (ERT, both 88%, 15\/17), hematopoietic stem cell therapy (HSCT, 70%, 12\/17 and 76%, 13\/17), and finally gene therapy (GT, 58%, 10\/17 and 53%, 9\/17). The general attitudes strongly influenced decision-making regarding treatment options. While over 80% of respondents who held a positive attitude toward ERT, HSCT, and ITTs indicated they would opt for these therapies in both neuronopathic and non-neuronopathic cases, only about half of the parents with a favorable general view of gene therapy (GT) expressed a positive perception of its likelihood as a treatment option. Furthermore, most parents found mild infections, injection site reactions (ISRs), hypertonia, and treatment-related hospitalizations acceptable and indicated patient organizations as their main source of information.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>This study provides an innovative survey method, thereby offering the rationale for a quantitative risk\u2013benefit model and the importance of patient and caregiver-centered information dissemination, especially for innovative therapies.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/s13023-025-03549-y","type":"journal-article","created":{"date-parts":[[2025,1,24]],"date-time":"2025-01-24T13:59:44Z","timestamp":1737727184000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Parental perception of treatment options for mucopolysaccharidosis: a survey to bridge the gap for personalized medicine"],"prefix":"10.1186","volume":"20","author":[{"given":"Anna-Maria","family":"Wiesinger","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian B.","family":"Lagler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,1,24]]},"reference":[{"key":"3549_CR1","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1016\/S0065-3101(24)00309-8","volume":"33","author":"J Muenzer","year":"1986","unstructured":"Muenzer J. Mucopolysaccharidoses. Adv Pediatr. 1986;33:269\u2013302.","journal-title":"Adv Pediatr"},{"issue":"1","key":"3549_CR2","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1111\/dmcn.13600","volume":"60","author":"M Beck","year":"2018","unstructured":"Beck M. Treatment strategies for lysosomal storage disorders. Dev Med Child Neurol. 2018;60(1):13\u20138.","journal-title":"Dev Med Child Neurol"},{"issue":"11","key":"3549_CR3","doi-asserted-by":"publisher","first-page":"1153","DOI":"10.1038\/s10038-019-0662-9","volume":"64","author":"HH Chen","year":"2019","unstructured":"Chen HH, Sawamoto K, Mason RW, Kobayashi H, Yamaguchi S, Suzuki Y, et al. Enzyme replacement therapy for mucopolysaccharidoses; past, present, and future. J Hum Genet. 2019;64(11):1153\u201371. https:\/\/doi.org\/10.1038\/s10038-019-0662-9.","journal-title":"J Hum Genet"},{"issue":"2","key":"3549_CR4","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1038\/nrd.2017.214","volume":"17","author":"FM Platt","year":"2018","unstructured":"Platt FM. Emptying the stores: lysosomal diseases and therapeutic strategies. Nat Rev Drug Discov. 2018;17(2):133\u201350. https:\/\/doi.org\/10.1038\/nrd.2017.214.","journal-title":"Nat Rev Drug Discov"},{"issue":"1","key":"3549_CR5","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1038\/s41392-021-00487-6","volume":"6","author":"JT Bulcha","year":"2021","unstructured":"Bulcha JT, Wang Y, Ma H, Tai PWL, Gao G. Viral vector platforms within the gene therapy landscape. Signal Trans Target Ther. 2021;6(1):53.","journal-title":"Signal Trans Target Ther"},{"issue":"7549","key":"3549_CR6","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1038\/520609a","volume":"520","author":"NJ Schork","year":"2015","unstructured":"Schork NJ. Personalized medicine: time for one-person trials. Nature. 2015;520(7549):609\u201311.","journal-title":"Nature"},{"key":"3549_CR7","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2022.863667","author":"A-M Wiesinger","year":"2022","unstructured":"Wiesinger A-M, Bigger B, Giugliani R, Scarpa M, Moser T, Lampe C, et al. The inflammation in the cytopathology of patients with mucopolysaccharidoses-immunomodulatory drugs as an approach to therapy. Front Pharmacol. 2022. https:\/\/doi.org\/10.3389\/fphar.2022.863667.","journal-title":"Front Pharmacol"},{"issue":"3","key":"3549_CR8","doi-asserted-by":"publisher","first-page":"416","DOI":"10.3390\/ph16030416","volume":"16","author":"AM Wiesinger","year":"2023","unstructured":"Wiesinger AM, Strobl H, Lagler FB. Individual treatment trials-do experts know and use this option to improve the treatability of mucopolysaccharidosis? Pharmaceuticals. 2023;16(3):416.","journal-title":"Pharmaceuticals"},{"issue":"2","key":"3549_CR9","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1038\/s41431-019-0513-3","volume":"28","author":"AL Hartman","year":"2020","unstructured":"Hartman AL, Hechtelt Jonker A, Parisi MA, Julkowska D, Lockhart N, Isasi R. Ethical, legal, and social issues (ELSI) in rare diseases: a landscape analysis from funders. Eur J Hum Genet. 2020;28(2):174\u201381.","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"3549_CR10","doi-asserted-by":"publisher","first-page":"1565","DOI":"10.3390\/pharmaceutics15051565","volume":"15","author":"AM Wiesinger","year":"2023","unstructured":"Wiesinger AM, Bigger B, Giugliani R, Lampe C, Scarpa M, Moser T, et al. An innovative tool for evidence-based, personalized treatment trials in mucopolysaccharidosis. Pharmaceutics. 2023;15(5):1565.","journal-title":"Pharmaceutics"},{"key":"3549_CR11","doi-asserted-by":"publisher","first-page":"323","DOI":"10.3389\/fmed.2020.00323","volume":"7","author":"M Toumi","year":"2020","unstructured":"Toumi M, Millier A, Cristeau O, Thokagevistk-Desroziers K, Dorey J, Aball\u00e9a S. Social preferences for orphan drugs: a discrete choice experiment among the French general population. Front Med. 2020;7:323.","journal-title":"Front Med"},{"issue":"1","key":"3549_CR12","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1186\/s13023-019-1126-1","volume":"14","author":"J L\u00f3pez-Bastida","year":"2019","unstructured":"L\u00f3pez-Bastida J, Ramos-Go\u00f1i JM, Aranda-Reneo I, Taruscio D, Magrelli A, Kanavos P. Using a stated preference discrete choice experiment to assess societal value from the perspective of patients with rare diseases in Italy. Orphanet J Rare Dis. 2019;14(1):154.","journal-title":"Orphanet J Rare Dis"},{"key":"3549_CR13","doi-asserted-by":"publisher","first-page":"e46056","DOI":"10.2196\/46056","volume":"12","author":"AK Fischer","year":"2023","unstructured":"Fischer AK, M\u00fchlbacher AC. Patient and public acceptance of digital technologies in health care: protocol for a discrete choice experiment. JMIR Res Protoc. 2023;12:e46056.","journal-title":"JMIR Res Protoc"},{"issue":"2","key":"3549_CR14","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1080\/13696998.2018.1555404","volume":"22","author":"J Lokkerbol","year":"2019","unstructured":"Lokkerbol J, Geomini A, van Voorthuijsen J, van Straten A, Tiemens B, Smit F, et al. A discrete-choice experiment to assess treatment modality preferences of patients with depression. J Med Econ. 2019;22(2):178\u201386.","journal-title":"J Med Econ"},{"issue":"1","key":"3549_CR15","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1186\/s13023-022-02178-z","volume":"17","author":"ME Schwab","year":"2022","unstructured":"Schwab ME, Brown JEH, Lianoglou B, Jin C, Conroy PC, Gallagher RC, et al. Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients. Orphanet J Rare Dis. 2022;17(1):25.","journal-title":"Orphanet J Rare Dis"},{"issue":"23","key":"3549_CR16","doi-asserted-by":"publisher","first-page":"7371","DOI":"10.1182\/bloodadvances.2023009680","volume":"7","author":"JM Gonzalez Sepulveda","year":"2023","unstructured":"Gonzalez Sepulveda JM, Yang JC, Reed SD, Lee TH, Ng X, Stothers S, et al. Preferences for potential benefits and risks for gene therapy in the treatment of sickle cell disease. Blood Adv. 2023;7(23):7371\u201381.","journal-title":"Blood Adv"},{"issue":"4","key":"3549_CR17","doi-asserted-by":"publisher","first-page":"588","DOI":"10.1111\/hae.14572","volume":"28","author":"I Woollacott","year":"2022","unstructured":"Woollacott I, Morgan G, Chowdary P, O\u2019Hara J, Franks B, van Overbeeke E, et al. Examining patient and professional perspectives in the UK for gene therapy in haemophilia. Haemophilia. 2022;28(4):588\u2013609.","journal-title":"Haemophilia"},{"issue":"5","key":"3549_CR18","doi-asserted-by":"publisher","first-page":"769","DOI":"10.1111\/hae.14383","volume":"27","author":"M Witkop","year":"2021","unstructured":"Witkop M, Morgan G, O\u2019Hara J, Recht M, Buckner TW, Nugent D, et al. Patient preferences and priorities for haemophilia gene therapy in the US: a discrete choice experiment. Haemophilia. 2021;27(5):769\u201382.","journal-title":"Haemophilia"},{"issue":"1","key":"3549_CR19","doi-asserted-by":"publisher","first-page":"e3216","DOI":"10.1002\/hon.3216","volume":"42","author":"P Sportoletti","year":"2024","unstructured":"Sportoletti P, Laurenti L, Chiarenza A, Gaidano G, Albi E, Mauro FR, et al. Patients\u2019 preferences for chronic lymphocytic leukemia treatment: the CHOICE study. Hematol Oncol. 2024;42(1):e3216.","journal-title":"Hematol Oncol"},{"issue":"1","key":"3549_CR20","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1080\/03007995.2016.1232704","volume":"33","author":"AJ Lloyd","year":"2017","unstructured":"Lloyd AJ, Gallop K, Ali S, Hughes D, MacCulloch A. Social preference weights for treatments in Fabry disease in the UK: a discrete choice experiment. Curr Med Res Opin. 2017;33(1):23\u20139.","journal-title":"Curr Med Res Opin"},{"issue":"1","key":"3549_CR21","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1186\/s12910-023-00966-1","volume":"24","author":"KS Bywall","year":"2023","unstructured":"Bywall KS, Drevin J, Groothuis-Oudshoorn C, Veldwijk J, Nyholm D, Widner H, et al. Patients accept therapy using embryonic stem cells for Parkinson\u2019s disease: a discrete choice experiment. BMC Med Ethics. 2023;24(1):83.","journal-title":"BMC Med Ethics"},{"issue":"10","key":"3549_CR22","doi-asserted-by":"publisher","first-page":"1373","DOI":"10.1007\/s10803-010-1164-y","volume":"41","author":"A Bowker","year":"2011","unstructured":"Bowker A, D\u2019Angelo NM, Hicks R, Wells K. Treatments for autism: parental choices and perceptions of change. J Aut Dev Disord. 2011;41(10):1373\u201382.","journal-title":"J Aut Dev Disord"},{"issue":"1","key":"3549_CR23","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1186\/s13063-021-05119-6","volume":"22","author":"L Niemeyer","year":"2021","unstructured":"Niemeyer L, Mechler K, Buitelaar J, Durston S, Gooskens B, Oranje B, et al. \u201cInclude me if you can\u201d-reasons for low enrollment of pediatric patients in a psychopharmacological trial. Trials. 2021;22(1):178.","journal-title":"Trials"},{"issue":"5","key":"3549_CR24","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1177\/2168479018820875","volume":"53","author":"VWL Tsang","year":"2019","unstructured":"Tsang VWL, West L, Woods C, Koh CJ, McCune S, Mullin T, et al. Role of patients and parents in pediatric drug development. Ther Innov Regul Sci. 2019;53(5):601\u20138.","journal-title":"Ther Innov Regul Sci"},{"issue":"1","key":"3549_CR25","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1080\/10803548.2010.11076826","volume":"16","author":"D Koradecka","year":"2010","unstructured":"Koradecka D, Po\u015bniak M, Widerszal-Bazyl M, Augusty Nska D, Radkiewicz P. A comparative study of objective and subjective assessment of occupational risk. Int J Occup Saf Ergon. 2010;16(1):3\u201322.","journal-title":"Int J Occup Saf Ergon"},{"issue":"3","key":"3549_CR26","doi-asserted-by":"publisher","first-page":"478","DOI":"10.1111\/cts.13459","volume":"16","author":"K Cheng","year":"2023","unstructured":"Cheng K, Mahler F, Lutsar I, Nafria Escalera B, Breitenstein S, Vassal G, et al. Clinical, methodology, and patient\/carer expert advice in pediatric drug development by conect4children. Clin Transl Sci. 2023;16(3):478\u201388.","journal-title":"Clin Transl Sci"},{"key":"3549_CR27","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/j.conctc.2017.11.005","volume":"9","author":"RG Greenberg","year":"2018","unstructured":"Greenberg RG, Gamel B, Bloom D, Bradley J, Jafri HS, Hinton D, et al. Parents\u2019 perceived obstacles to pediatric clinical trial participation: Findings from the clinical trials transformation initiative. Contemp Clin Trials Commun. 2018;9:33\u20139.","journal-title":"Contemp Clin Trials Commun"},{"key":"3549_CR28","doi-asserted-by":"publisher","first-page":"9436","DOI":"10.1016\/S0140-6736(04)16942-0","volume":"364","author":"PHY Caldwell","year":"2004","unstructured":"Caldwell PHY, Murphy SB, Butow PN, Craig JC. Clinical trials in children. Lancet. 2004;364:9436.","journal-title":"Lancet"},{"key":"3549_CR29","unstructured":"NORD. RARE insights report: barriers to rare disease diagnosis, care and treatment in the US. A 30-Year Comparative Analysis2020. p. 9."},{"issue":"1","key":"3549_CR30","doi-asserted-by":"publisher","first-page":"448","DOI":"10.1186\/s13023-022-02593-2","volume":"17","author":"N Guffon","year":"2022","unstructured":"Guffon N, Genevaz D, Lacombe D, Le Peillet FE, Bausson P, Noel E, et al. 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(1):448.","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"3549_CR31","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1002\/bimj.201300248","volume":"58","author":"R Nixon","year":"2016","unstructured":"Nixon R, Dierig C, Mt-Isa S, St\u00f6ckert I, Tong T, Kuhls S, et al. A case study using the PrOACT-URL and BRAT frameworks for structured benefit risk assessment. Biom J. 2016;58(1):8\u201327.","journal-title":"Biom J"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-03549-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-025-03549-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-03549-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,24]],"date-time":"2025-01-24T13:59:47Z","timestamp":1737727187000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-025-03549-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,24]]},"references-count":31,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["3549"],"URL":"https:\/\/doi.org\/10.1186\/s13023-025-03549-y","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,24]]},"assertion":[{"value":"24 June 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 January 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 January 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was prepared and carried out by the relevant principles of the International Conference on Harmonization and Good Clinical Practice (ICH-GCP) and was approved by the Ethical Committee in Salzburg, Austria (SS22-0019-0019, Feb. 24th,2023).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"All authors have given final permission to submit for publication.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no conflict of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"36"}}