{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T01:10:45Z","timestamp":1785546645685,"version":"3.56.0"},"reference-count":9,"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":"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>Background<\/jats:title>\n                    <jats:p>Next-generation enzyme replacement therapies (ERTs) for late-onset Pompe disease (LOPD), including avalglucosidase alfa and cipaglucosidase alfa with miglustat, have been developed to improve muscle targeting and enzyme stability. Real-world evidence on therapy switching between ERT preparations remains limited.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A prospective, observational, multicenter cohort study was conducted across German neuromuscular centers. Adults with genetically confirmed LOPD who transitioned to avalglucosidase alfa (Aval) or cipaglucosidase alfa with miglustat (Cipa\/Mig) between August\/2022 and September\/2024 were included. Clinical data were extracted from medical records using a standardized case report form. Following EPOC recommendations, data captured comprised six-minute walk test (6MWT), ten-meter walk test (10MWT), Rasch-built Pompe-specific Activity scale (R-PAct), upright and supine forced vital capacity (FVC), maximal inspiratory\/expiratory pressure (MIP\/MEP), and maximal voluntary ventilation (MVV). Data were analyzed descriptively and using linear mixed-effects models. Paired comparisons between baseline and 12\u00a0months were performed as a secondary analysis in patients with available data.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Thirty-nine patients (43 switches; alglucosidase alfa (AlGlu)\u2009\u2192\u2009Aval\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200932, AlGlu\u2009\u2192\u2009Cipa\/Mig\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20097) were included; four double switches were analyzed under AlGlu\u2009\u2192\u2009Aval. Main reasons for switching were patient request (42%) and clinical worsening (40%). Overall data completeness declined over time. Mean trajectories indicated stable respiratory function, minimal change in R-PAct, and non-significant trends toward slower walking performance. Mixed-model analyses revealed no significant effects of time or switch type, with baseline performance as the only consistent predictor. Infusion-related or serious adverse events were rare, and EPOC documentation criteria were met in 56% of patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This real-world study suggests that transitions between ERT preparations are generally feasible and associated with clinical stability in LOPD. Switching may represent a useful strategy in patients, particularly when efficacy concerns arise. Standardized prospective studies with systematic monitoring of immunogenicity and efficacy according to the 2024 EOPC guideline are recommended to confirm these findings.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s00415-026-13689-1","type":"journal-article","created":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T13:53:02Z","timestamp":1771077182000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["First multicenter real-world analysis of switching to next-generation enzyme replacement therapies in late-onset Pompe disease"],"prefix":"10.1007","volume":"273","author":[{"given":"Daniel H.","family":"Mendelsohn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Rosenbohm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Katrin","family":"G\u00fcttsches","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelia","family":"Kornblum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl Christian","family":"Knop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanja","family":"Fangerau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nam","family":"Nguyen-Younossi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guljan","family":"Shahyrova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Garcia-Angarita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedikt","family":"Schoser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8407-3642","authenticated-orcid":false,"given":"Stephan","family":"Wenninger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,2,14]]},"reference":[{"key":"13689_CR1","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1097\/01.gim.0000218152.87434.f3","volume":"8","author":"PS Kishnani","year":"2006","unstructured":"Kishnani PS, Steiner RD, Bali D et al (2006) Pompe disease diagnosis and management guideline. Genet Med 8:267\u2013288. https:\/\/doi.org\/10.1097\/01.gim.0000218152.87434.f3","journal-title":"Genet Med"},{"key":"13689_CR2","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1186\/1750-1172-7-88","volume":"7","author":"NAME van der Beek","year":"2012","unstructured":"van der Beek NAME, de Vries JM, Hagemans MLC et al (2012) Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. Orphanet J Rare Dis 7:88. https:\/\/doi.org\/10.1186\/1750-1172-7-88","journal-title":"Orphanet J Rare Dis"},{"key":"13689_CR3","doi-asserted-by":"publisher","DOI":"10.3390\/cells11030334","author":"KG Claeys","year":"2022","unstructured":"Claeys KG, D\u2019Hondt A, Fache L et al (2022) Six-minute walk distance is a useful outcome measure to detect motor decline in treated late-onset pompe disease patients. Cells. https:\/\/doi.org\/10.3390\/cells11030334","journal-title":"Cells"},{"key":"13689_CR4","doi-asserted-by":"publisher","first-page":"713","DOI":"10.2147\/TCRM.S362871","volume":"19","author":"L El Haddad","year":"2023","unstructured":"El Haddad L, Khan M, Soufny R et al (2023) Monitoring and management of respiratory function in Pompe disease: current perspectives. Ther Clin Risk Manag 19:713\u2013729. https:\/\/doi.org\/10.2147\/TCRM.S362871","journal-title":"Ther Clin Risk Manag"},{"key":"13689_CR5","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-025-03981-0","volume":"20","author":"M Corbett","year":"2025","unstructured":"Corbett M, Umemneku-Chikere C, Nevitt S et al (2025) Enzyme replacement therapy for the treatment of late onset Pompe disease: a systematic review and network meta-analysis. Orphanet J Rare Dis 20:451. https:\/\/doi.org\/10.1186\/s13023-025-03981-0","journal-title":"Orphanet J Rare Dis"},{"key":"13689_CR6","doi-asserted-by":"publisher","first-page":"1012","DOI":"10.1016\/S1474-4422(21)00241-6","volume":"20","author":"J Diaz-Manera","year":"2021","unstructured":"Diaz-Manera J, Kishnani PS, Kushlaf H et al (2021) Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial. Lancet Neurol 20:1012\u20131026. https:\/\/doi.org\/10.1016\/S1474-4422(21)00241-6","journal-title":"Lancet Neurol"},{"key":"13689_CR7","doi-asserted-by":"publisher","first-page":"1027","DOI":"10.1016\/S1474-4422(21)00331-8","volume":"20","author":"B Schoser","year":"2021","unstructured":"Schoser B, Roberts M, Byrne BJ et al (2021) Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial. Lancet Neurol 20:1027\u20131037. https:\/\/doi.org\/10.1016\/S1474-4422(21)00331-8","journal-title":"Lancet Neurol"},{"key":"13689_CR8","doi-asserted-by":"publisher","DOI":"10.1111\/ene.16383","volume":"31","author":"B Schoser","year":"2024","unstructured":"Schoser B, van der Beek NAME, Broomfield A et al (2024) Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024. Eur J Neurol 31:e16383. https:\/\/doi.org\/10.1111\/ene.16383","journal-title":"Eur J Neurol"},{"key":"13689_CR9","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1016\/j.nmd.2015.04.006","volume":"25","author":"B Schoser","year":"2015","unstructured":"Schoser B, Lafor\u00eat P, Kruijshaar ME et al (2015) 208th ENMC international workshop: formation of a European network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26\u201328 September 2014. Neuromuscul Disord 25:674\u2013678. https:\/\/doi.org\/10.1016\/j.nmd.2015.04.006","journal-title":"Neuromuscul Disord"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-026-13689-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-026-13689-1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-026-13689-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T22:04:45Z","timestamp":1773785085000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-026-13689-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,2]]}},"alternative-id":["13689"],"URL":"https:\/\/doi.org\/10.1007\/s00415-026-13689-1","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":"19 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":"All authors report no disclosures regarding this study. Outside of this context, SW has received research grant from the DGM\u2014Deutsche Gesellschaft fuer Muskelkranke e.V. He has served on advisory boards for Alexion Pharma, CSL Behring, and Sanofi Genzyme GmbH. He received funding for travel or speaker honoraria from Sanofi-Aventis Germany GmbH; SH Glykogenose Gesellschaft; AbbVie Germany GmbH; Recordati Pharma GmbH; CSL Behring GmbH; Alexion Pharma GmbH; Desitin Germany; Akcea GmbH. Outside of this context, BS has received unrestricted research grants from AMDA Foundation, Amicus Therapeutics, Inc., EU Horizon programs COMPASS, PaLaDIn, Entry-DM, and Roche Diagnostics; speakers\u2019 honoraria from Alexion Pharmaceuticals Inc., Amicus Therapeutics, Inc., Argenx, Dyne, Kedrion; and has also been a scientific adviser for Amicus Therapeutics, Inc., Alexion Pharmaceuticals Inc., Astellas, Avidity, Dyne, Johnson&Johnson, and Sanofi. He declares no stocks or shares. DHM has received funding for travel and a speaker honorarium from. AR has received research grant from the DGM\u2014Deutsche Gesellschaft fur Muskelkranke e.V. She has received funding for travel or speaker honoraria from Sanofi-Aventis Germany GmbH; Alexion Pharma GmbH; Amicus Therapeutics GmbH, Argenx Germany GmbH, Hormosan Pharma GmbH, Alnylam Germany GmbH, Fulcrum Therapeutics Cambridge, MA. Outside of this context, AG received remuneration for lecturing activity from Sanofi-Aventis Germany GmbH. She received remuneration for participation as a consultant in the advisory board from Amicus Therapeutics GmbH. Outside of this context, CK has received travel funding and\/or speaker honoraria from Amicus Therapeutics, Argenx, Chiesi, Fulcrum Therapeutics, Novartis, Sanofi Genzyme, Santhera, Sarepta Therapeutics, UCB, and served as advisory board member and\/or principal investigator for Amicus Therapeutics, Chiesi, Fulcrum Therapeutics, Hormosan, Omeicos, Reneo Pharmaceuticals, Roche Pharma AG, Sanofi Genzyme, Stealth BioTherapeutics, Symptoma, Tisento. The other authors have no conflicts of interest to declare.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}}],"article-number":"144"}}