{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T04:04:45Z","timestamp":1793505885603,"version":"4.5.0"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2021,2,24]],"date-time":"2021-02-24T00:00:00Z","timestamp":1614124800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,2,24]],"date-time":"2021-02-24T00:00:00Z","timestamp":1614124800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100005722","name":"Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100005722","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Late-onset Pompe disease (LOPD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, leading to progressive weakness of locomotor and respiratory muscles. Enzyme replacement therapy (ERT), administered every second week, has been proven to slow down disease progression and stabilize pulmonary function. Due to the COVID-19 pandemic in Germany, ERT was interrupted at our centre for 29\u00a0days. As reports on ERT discontinuation in LOPD are rare, our study aimed to analyse the impact of ERT interruption on the change in clinical outcome.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We performed a prospective cohort study in 12 LOPD patients. Clinical assessments were performed after ERT interruption and after the next three consecutive infusions. We assessed motor function by muscle strength testing, a 6-minute-walk-test, pulmonary function tests, and adverse events. For statistical analysis, an estimated baseline was calculated based on the individual yearly decline.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>The mean time of ERT interruption was 49.42\u00a0days (SD\u2009\u00b1\u200912.54). During ERT interruption, seven patients reported 14 adverse events and two of them were severe. Frequent symptoms were reduced muscle endurance\/increased muscle fatigability and shortness of breath\/worsening of breathing impairment. After ERT interruption, significant deterioration was found for MIP<jats:sub>%pred<\/jats:sub> (<jats:italic>p<\/jats:italic>\u2009=\u20090.026) and MRC<jats:sub>%pred<\/jats:sub>, as well as a trend to clinical deterioration in FVC<jats:sub>%pred<\/jats:sub> and the 6MWT<jats:sub>%pred<\/jats:sub>.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Interruption of ERT was associated with a deterioration in the core clinical outcome measures. Therefore, an interruption of ERT should be kept as short as possible.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s00415-021-10475-z","type":"journal-article","created":{"date-parts":[[2021,2,24]],"date-time":"2021-02-24T10:02:55Z","timestamp":1614160975000},"page":"2943-2950","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["The impact of interrupting enzyme replacement therapy in late-onset Pompe disease"],"prefix":"10.1007","volume":"268","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8407-3642","authenticated-orcid":false,"given":"Stephan","family":"Wenninger","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9891-5919","authenticated-orcid":false,"given":"Kristina","family":"Gutschmidt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinna","family":"Wirner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7291-5408","authenticated-orcid":false,"given":"Krisztina","family":"Einvag","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Montagnese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2757-8131","authenticated-orcid":false,"given":"Benedikt","family":"Schoser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,2,24]]},"reference":[{"issue":"9646","key":"10475_CR1","doi-asserted-by":"publisher","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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SW has received research grant by the DGM\u2014Deutsche Gesellschaft f\u00fcr 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; CSLBehring GmbH; Alexion Pharma GmbH; Desitin Germany; Akcea GmbH. BS has served on advisory boards for Amicus Therapeutics, Audentes, Nexien, Spark, and Sanofi Genzyme; he has undertaken contracted Page 21\/25 unrestricted research for Greenovation Biopharm, Sanofi Genzyme, Amicus; and has received honoraria from Kedrion and Alexion, and travel expenses from Amicus and Sanofi Genzyme. FM received funding for travel or speaker Honoraria from Sanofi-Aventis Germany GmbH and SH Glykogenose Gesellschaft. The other authors have no conflicts of interest to declare.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The assessments in this study were performed\nwithin the national POMPE Registry program, approved by the Medical Ethics Committee of the Landesaerztekammer Rheinland-Pfalz (no. 7\/04929) and conducted in accordance with the ethical standards recognized internationally.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}}]}}