{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T01:10:44Z","timestamp":1785546644958,"version":"3.56.0"},"reference-count":93,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T00:00:00Z","timestamp":1771027200000},"content-version":"vor","delay-in-days":13,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Astellas Gene Therapies"},{"name":"Klinikum der Universit\u00e4t M\u00fcnchen"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      Pompe disease is a rare, progressive genetic disorder caused by pathogenic variants in the\n                      <jats:italic>GAA<\/jats:italic>\n                      gene. Emerging gene therapies offer the potential for long-term disease management, although logistical and clinical challenges demand specialised centres with defined protocols. A scientific steering committee of 8 European experts deliberated on the requirements for establishing gene therapy centres of excellence for Pompe disease.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A modified think-tank approach was used to develop expert-based recommendations through qualitative research utilizing expert opinion methodology. Discussion topics were validated in an online kick-off meeting. Experts were assigned specific topics and tasked with generating content. Multiple online meetings facilitated expert presentations, discussions, and validation of recommendations for each topic.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Optimised patient management and timely access to treatment require accurate diagnosis and evaluation of Pompe disease. The committee recommended expanding newborn screening programs for infantile-onset Pompe disease and developing protocols for follow-up of presymptomatic late-onset Pompe disease. A specialised multidisciplinary team trained in Pompe disease and gene therapy should manage the patient journey. Pre-gene therapy assessments were recommended to mitigate risks. Patients should be hospitalized and continuously monitored during gene therapy infusions. After gene therapy, guidelines recommend corticosteroid immunosuppression, monitoring for adverse events (including hepatoxicity, myocarditis, thrombocytopenia, thrombotic microangiopathy, and hemophagocytic lymphohistiocytosis), and Pompe disease assessments (including motor functional assessments, magnetic resonance imaging of the muscles, and patient-reported outcomes). Centres of excellence require infrastructure with standard operating procedures for gene therapy products.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Implementing gene therapy for Pompe disease requires a coordinated multidisciplinary effort to overcome gaps in knowledge, infrastructure, and patient management.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s00415-026-13687-3","type":"journal-article","created":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T14:12:51Z","timestamp":1771078371000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A roadmap for a patient-centred approach to Pompe disease management"],"prefix":"10.1007","volume":"273","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2757-8131","authenticated-orcid":false,"given":"Benedikt","family":"Schoser","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5151-988X","authenticated-orcid":false,"given":"Cristina","family":"Dom\u00ednguez-Gonz\u00e1lez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8509-9107","authenticated-orcid":false,"given":"Pascal","family":"Laforet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0235-5211","authenticated-orcid":false,"given":"Andreas","family":"Hahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9712-6122","authenticated-orcid":false,"given":"Paul","family":"Gissen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7309-1914","authenticated-orcid":false,"given":"Anna","family":"Kostera-Pruszczyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-5455-5603","authenticated-orcid":false,"given":"Andreas","family":"Thalmeier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6144-8544","authenticated-orcid":false,"given":"John","family":"Vissing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,2,14]]},"reference":[{"issue":"9646","key":"13687_CR1","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1016\/S0140-6736(08)61555-X","volume":"372","author":"AT van der Ploeg","year":"2008","unstructured":"van der Ploeg AT, Reuser AJ (2008) Pompe\u2019s disease. 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Am J Health-Syst Pharm 78(11):953\u2013961","journal-title":"Am J Health-Syst Pharm"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-026-13687-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-026-13687-3","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-026-13687-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T22:04:02Z","timestamp":1773785042000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-026-13687-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2]]},"references-count":93,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,2]]}},"alternative-id":["13687"],"URL":"https:\/\/doi.org\/10.1007\/s00415-026-13687-3","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2]]},"assertion":[{"value":"17 November 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 February 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 February 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 February 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Benedikt Schoser has received research grants from the EU Horizon 2022 programs ComPaSS, PaLaDIn, and ENTRY-DM, PepGen DM research; received consulting fees from Alexion, Amicus, Astellas, Avidity, Denali, Dyne, Sanofi, and Johnson&Johnson; honoraria from Alexion, Argenx, Astellas, Dyne, Kedrion, and Sanofi; support for attending meetings and\/or travel from Astellas, Amicus, and Sanofi; have participated in advisory boards for Amicus, Astellas, Avidity, Dyne, and Encoded; and declares no stocks or shares. Cristina Dominguez has received research grants from UCB Pharma, Pretzel Therapeutics and Instituto de Salud Carlos III; received speaker's honoraria or consulting fees from Astellas, Amicus, Pretzel Therapeutics, Sanofi, Roche, and UCB; and declares no stocks or shares. Pascal Laforet has received research grants from Amicus Therapeutics and Sanofi; consulting fees or speaker's honoraria or support for attending meetings and\/or travel from Amicus Therapeutics, Astellas, and Sanofi; and declares no stocks or shares. Paul Gissen has received consulting fees from BioMarin and Travere Therapeutics; received speaker's honoraria from BioMarin; is a member of the MRC Molecular and Cellular Medicine Board, the Scientific Committee for International Niemann Pick Disease Registry, the Medical and Scientific Advisory Board for Batten Disease Family Association, and of Telethon Grants; and declares shares of Bloomsbury Genetic Therapies. Anna Kostera-Pruszczyk has received research grants from Sanofi, Biogen, and Kedrion; speaker's honoraria from Novartis, Roche, Biogen, Alexion, UCB, Takeda, CSL Behring, and AstraZeneca; is a member of the Council of Rare Diseases (Advisory to Ministry of Health); and declares no stocks or shares. Andreas Thalmeier has received consulting fees from Astellas and Roche. John Vissing has received research grants from NOVO Nordic foundation and an EU grant for Becker muscular dystrophy; consulting fees from Sanofi, Dyne Therapeutics, and Roche; speaker's honoraria from Edgewise Therapeutics, UCB Biopharma, Alexion Pharmaceuticals, and Janssen Pharmaceuticals; has participated in advisory boards for Dyne Therapeutics; and declares no stocks or shares. Andreas Hahn has received research grants from Sanofi and consulting and\/or speaker\u2019s honoraria from Amicus, Sanofi, Astellas, Pfizer, Roche, and Novartis.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"The manuscript does not contain clinical studies or patient data.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}],"article-number":"145"}}