{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T03:12:24Z","timestamp":1789269144929,"version":"build-2803163510"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2024,6,19]],"date-time":"2024-06-19T00:00:00Z","timestamp":1718755200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,6,19]],"date-time":"2024-06-19T00:00:00Z","timestamp":1718755200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100004339","name":"Sanofi","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004339","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Chronic respiratory insufficiency from progressive muscle weakness causes morbidity and mortality in late-onset Pompe disease (LOPD). Previous Pompe Registry (NCT00231400) analyses for\u2009\u2264\u20095\u00a0years\u2019 alglucosidase alfa treatment showed a single linear time trend of stable forced vital capacity (FVC) % predicted.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>To assess longer term Pompe Registry data, piecewise linear mixed model regression analyses estimated FVC% predicted trajectories in invasive-ventilator-free patients with LOPD aged\u2009\u2265\u20095\u00a0years. We estimated annual FVC change 0\u20136\u00a0months,\u2009&gt;\u20096\u00a0months\u20135\u00a0years, and\u2009&gt;\u20095\u201313\u00a0years from treatment initiation, adjusting for baseline age, sex, and non-invasive ventilation.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Findings<\/jats:title>\n            <jats:p>Among 485 patients (4612 FVC measurements; 8.3\u00a0years median follow-up), median ages at symptom onset, diagnosis, and alglucosidase alfa initiation were 34.3, 41.1, and 44.9\u00a0years, respectively. FVC% increased during the first 6\u00a0months\u2019 treatment (slope 1.83%\/year; 95% confidence interval: 0.66, 3.01; <jats:italic>P<\/jats:italic>\u2009=\u20090.0023), then modestly declined \u22120.54%\/year (\u22120.79, \u22120.30; <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.0001) during\u2009&gt;\u20096\u00a0months\u20135\u00a0years, and \u22121.00%\/year (\u22121.36, \u22120.63; <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.0001) during\u2009&gt;\u20095\u201313\u00a0years. The latter two periods\u2019 slopes were not significantly different from each other (<jats:italic>P<\/jats:italic>\n              <jats:sub>difference<\/jats:sub>\u2009=\u20090.0654) and were less steep than published natural history slopes (\u22121% to \u22124.6%\/year). Estimated individual slopes were\u2009\u2265\u20090%\/year in 96.1%, 30.3%, and 13.2% of patients during the 0\u20136\u00a0month,\u2009&gt;\u20096\u00a0month\u20135\u00a0year, and\u2009&gt;\u20095\u201313\u00a0year periods, respectively.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>These real-world data indicate an alglucosidase alfa benefit on FVC trajectory that persists at least 13\u00a0years compared with published natural history data. Nevertheless, unmet need remains since most individuals demonstrate lung function decline 5\u00a0years after initiating treatment. Whether altered FVC trajectory impacts respiratory failure incidence remains undetermined.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Trial registration<\/jats:title>\n            <jats:p>This study was registered (NCT00231400) on ClinicalTrials.gov on September 30, 2005, retrospectively registered.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1007\/s00415-024-12489-9","type":"journal-article","created":{"date-parts":[[2024,6,19]],"date-time":"2024-06-19T07:01:52Z","timestamp":1718780512000},"page":"5433-5446","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Changes in forced vital capacity over\u2009\u2264\u200913\u00a0years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry"],"prefix":"10.1007","volume":"271","clinical-trial-number":[{"clinical-trial-number":"nct00231400","registry":"10.18810\/clinical-trials-gov"}],"author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4879-6071","authenticated-orcid":false,"given":"Kenneth I.","family":"Berger","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yin-Hsiu","family":"Chien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Dubrovsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priya S.","family":"Kishnani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Juan C.","family":"Llerena","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward","family":"Neilan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Roberts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bun","family":"Sheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie L.","family":"Batista","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magali","family":"Periquet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn M.","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ans T.","family":"van der Ploeg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,6,19]]},"reference":[{"key":"12489_CR1","doi-asserted-by":"publisher","first-page":"e1756","DOI":"10.1212\/WNL.0000000000008441","volume":"93","author":"L Harlaar","year":"2019","unstructured":"Harlaar L, Hogrel JY, Perniconi B, Kruijshaar ME, Rizopoulos D, Taouagh N, Canal A, Brusse E, van Doorn PA, van der Ploeg AT, Lafor\u00eat P, van der Beek NAME (2019) Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease. 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He is employed by Sanofi at the time of manuscript submission. Y-HC has served on advisory boards for Amicus and Sanofi; has received consulting fees from Amicus and Sanofi; has undertaken contracted research for Sanofi; and received honoraria from Biogen, Novartis, Sanofi, and Takeda. AD has served on advisory boards for Sanofi. PSK has served on advisory boards for Amicus Therapeutics, Baebies, and Sanofi; has received consulting fees from Amicus Therapeutics, Asklepios Biopharmaceutical, Inc. (AskBio), JCR Pharma, Maze Therapeutics, and Sanofi; has undertaken contracted research for Amicus Therapeutics and Sanofi; and has ownership interest\u2009<\u20095% (stocks, stock options or other ownership interest excluding diversified mutual funds) in AskBio and Maze Therapeutics; and has received travel expenses from Amicus Therapeutics and Sanofi. JL has no competing interests to declare that are relevant to the content of this article. EN was employed by Sanofi and held shares of stock in the company at the time of the study. He is currently employed by the National Organization for Rare Disorders. MR has served on advisory boards for Sanofi (Pompe Registry); has received consulting fees from Amicus Therapeutics, BioMarin, and Sanofi, and has undertaken contracted research for Amicus Therapeutics. BS has served on advisory boards for Sanofi (Pompe Registry). JLB is a Sanofi employee and may hold shares and\/or stock options in the company. MP was an employee of Sanofi at the time of study participation and may hold shares and\/or stock options in the company; she is currently employed by UCB. KW is a contractor for Navitas Data Sciences and is funded by Sanofi. AvdP has served on advisory boards for Amicus, BioMarin, Sanofi, and Spark Therapeutics; has received consulting fees from Amicus, BioMarin, Sanofi, and Spark Therapeutics; and has undertaken contracted research for Amicus, BioMarin, Sanofi, and Spark Therapeutics.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"Local sites\u2019 Institutional Review Boards or Independent Ethics Committees approved the Pompe Registry protocol, informed consent form, and local authorization documents for data submissions. Each participating center obtained written informed consent from patients or for minors, their guardians, to submit their data to the Pompe Registry and to use and disclose this information anonymously in aggregate analyses.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}}]}}