{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:49:31Z","timestamp":1787014171489,"version":"build-2736575974"},"reference-count":33,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2023,6,10]],"date-time":"2023-06-10T00:00:00Z","timestamp":1686355200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Classical infantile\u2010onset Pompe disease (IOPD) is the most severe form of Pompe disease. Enzyme replacement therapy (ERT) has significantly increased survival but only a few studies have reported long\u2010term outcomes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We retrospectively analyzed the outcomes of classical IOPD patients diagnosed in France between 2004 and 2020.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Sixty\u2010four patients were identified. At diagnosis (median age 4\u2009months) all patients had cardiomyopathy and most had severe hypotonia (57 of 62 patients, 92%). ERT was initiated in 50 (78%) patients and stopped later due to being ineffective in 10 (21%). Thirty\u2010seven (58%) patients died during follow\u2010up, including all untreated and discontinued ERT patients, and 13 additional patients. Mortality was higher during the first 3\u2009years of life and after the age of 12\u2009years. Persistence of cardiomyopathy during follow\u2010up and\/or the presence of heart failure were highly associated with an increased risk of death. In contrast, cross\u2010reactive immunologic material (CRIM)\u2010negative status (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200916, 26%) was unrelated to increased mortality, presumably because immunomodulation protocols prevent the emergence of high antibody titers to ERT. Besides survival, decreased ERT efficacy appeared after the age of 6\u2009years, with a progressive decline in motor and pulmonary functions for most survivors.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This study reports the long\u2010term follow\u2010up of one of the largest cohorts of classical IOPD patients and demonstrates high long\u2010term mortality and morbidity rates with a secondary decline in muscular and respiratory functions. This decreased efficacy seems to be multifactorial, highlighting the importance of developing new therapeutic approaches targeting various aspects of pathogenesis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ene.15894","type":"journal-article","created":{"date-parts":[[2023,5,26]],"date-time":"2023-05-26T13:59:22Z","timestamp":1685109562000},"page":"2828-2837","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Long\u2010term follow\u2010up of 64 children with classical infantile\u2010onset Pompe disease since 2004: A French real\u2010life observational study"],"prefix":"10.1111","volume":"30","author":[{"given":"Marine","family":"Tardieu","sequence":"first","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme ToTeM, Service de M\u00e9decine P\u00e9diatrique H\u00f4pital Clocheville  Tours 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