{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T23:53:20Z","timestamp":1792194800700,"version":"4.4.0"},"reference-count":43,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,7,27]],"date-time":"2020-07-27T00:00:00Z","timestamp":1595808000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Despite a wide clinical spectrum, the adult form of Pompe disease is the most common one, and represents more than 90% of diagnosed patients in France. Since the marketing of enzyme replacement therapy (alglucosidase alfa, Myozyme), all reports to date in adults demonstrated an improvement of the walking distance, and a trend toward stabilization of respiratory function, but the majority of these studies were less than 5\u2009years of duration. We report here the findings from 158 treated patients included in the French Pompe Registry, who underwent regular clinical assessments based on commonly used standardized tests (6\u2010minute walking test, MFM scale, sitting vital capacity, MIP and MEP). For longitudinal analyses, the linear mixed effects models were used to assess trends in primary endpoints over time under ERT. A two\u2010phase model better described the changes in distance traveled in the 6\u2010minute walk test and MFM. 6MWT showed an initial significant increase (1.4%\u2009\u00b1\u20090.5\/year) followed by a progressive decline (\u22122.3%\/year), with a cut\u2010off point at 2.2\u2009years. A similar pattern was observed in total MFM score (6.6%\u2009\u00b1\u20092.3\/year followed by a \u2212\u20091.1%\/year decline after 0.5\u2009years). A single\u2010phase decline with a slope of \u22120.9\u2009\u00b1\u20090.1%\/year (<jats:italic>P<\/jats:italic>\u2009&lt;\u2009.001) was observed for FVC, and MEP remained stable over the all duration of follow\u2010up. This study provides further evidence that ERT improves walking abilities and likely stabilizes respiratory function in adult patients with Pompe disease, with a ceiling effect for the 6MWT in the first 3\u2009years of treatment.<\/jats:p>","DOI":"10.1002\/jimd.12272","type":"journal-article","created":{"date-parts":[[2020,6,9]],"date-time":"2020-06-09T15:29:15Z","timestamp":1591716555000},"page":"1219-1231","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":61,"title":["Long\u2010term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry"],"prefix":"10.1002","volume":"43","author":[{"given":"Claudio","family":"Semplicini","sequence":"first","affiliation":[{"name":"Department of Neurosciences University of Padova, Azienda Ospedaliera di Padova  Padova Italy"},{"name":"Centre de r\u00e9f\u00e9rence des pathologies neuromusculaires Nord\u2010Est\u2010Ile de France, H\u00f4pital La Piti\u00e9\u2010Salp\u00eatri\u00e8re, AP\u2010HP  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"De Antonio","sequence":"additional","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence des pathologies neuromusculaires Nord\u2010Est\u2010Ile de France, H\u00f4pital La Piti\u00e9\u2010Salp\u00eatri\u00e8re, AP\u2010HP  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadjib","family":"Taouagh","sequence":"additional","affiliation":[{"name":"Institut de Myologie, H\u00f4pital La Piti\u00e9\u2010Salp\u00e9tri\u00e8re, AP\u2010HP  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"B\u00e9hin","sequence":"additional","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence des pathologies neuromusculaires Nord\u2010Est\u2010Ile de France, H\u00f4pital La Piti\u00e9\u2010Salp\u00eatri\u00e8re, AP\u2010HP  Paris 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