{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T21:16:49Z","timestamp":1789161409207,"version":"build-2803163510"},"reference-count":36,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,7,13]],"date-time":"2020-07-13T00:00:00Z","timestamp":1594598400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004243","name":"Prinses Beatrix Spierfonds","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001826","name":"ZonMw","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010659","name":"Erasmus Universitair Medisch Centrum","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003195","name":"Ministerie van Economische Zaken","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003195","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"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>The aim of this study was to compare the long\u2010term outcome of classic infantile Pompe patients treated with 20\u2009mg\/kg alglucosidase alfa every other week (eow) to those treated with 40\u2009mg\/kg\/week, and to study the additional effect of immunomodulation. Six patients received 20\u2009mg\/kg eow and twelve 40\u2009mg\/kg\/week. Five patients were cross\u2010reactive immunologic material (CRIM)\u2010negative, two in the 20\u2009mg, three in the 40\u2009mg group. We compared (ventilator\u2010free) survival, motor outcome, infusion associated reactions (IARs), and antibody formation. From 2012 on patients &gt;2 months in the 40\u2009mg group also received immunomodulation with rituximab, methotrexate, and intravenous immunoglobulin (IVIG) in an enzyme replacement therapy (ERT)\u2010na\u00efve setting. Survival was 66% in the 20\u2009mg group and 92% in the 40\u2009mg group. Ventilator\u2010free survival was 50% and 92%. Both CRIM\u2010negative patients in the 20\u2009mg group died, whereas all three are alive in the 40\u2009mg group. In the 20\u2009mg group, 67% learned to walk compared with 92% in the 40\u2009mg group. At the age of 3\u2009years, 33% and 92% were able to walk. Peak antibody titers ranged from 1:1250 to 1:31\u2009250 in the 20\u2009mg group and from 1:250 to 1:800\u2009000 in the 40\u2009mg group. Five patients of the 40\u2009mg group of whom two CRIM\u2010negative also received immunomodulation. B\u2010cell recovery was observed between 5.7 and 7.9 months after the last dose of rituximab. After B\u2010cell recovery titers of patients with and without immunomodulation were similar (ranges 1:6\u2009250\u20101:800\u2009000 and 1:250\u20101:781\u2009250). This study shows that classic infantile patients treated with 40\u2009mg\/kg\/week from the start to end have a better (ventilator\u2010free) survival and motor outcome. Immunomodulation did not prevent antibody formation in our study.<\/jats:p>","DOI":"10.1002\/jimd.12268","type":"journal-article","created":{"date-parts":[[2020,6,7]],"date-time":"2020-06-07T12:59:03Z","timestamp":1591534743000},"page":"1243-1253","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long\u2010term clinical outcome of classic infantile Pompe patients"],"prefix":"10.1002","volume":"43","author":[{"given":"Esther","family":"Poelman","sequence":"first","affiliation":[{"name":"Center for Lysosomal and Metabolic Diseases, Department of Pediatrics Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan J. A.","family":"van den Dorpel","sequence":"additional","affiliation":[{"name":"Center for Lysosomal and Metabolic Diseases, Department of Pediatrics Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Hoogeveen\u2010Westerveld","sequence":"additional","affiliation":[{"name":"Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna M. P.","family":"van den Hout","sequence":"additional","affiliation":[{"name":"Center for Lysosomal and Metabolic Diseases, Department of Pediatrics Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lianne J.","family":"van der Giessen","sequence":"additional","affiliation":[{"name":"Center for Lysosomal and Metabolic Diseases, Department of Pediatric Physiotherapy Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine A. M. E.","family":"van der Beek","sequence":"additional","affiliation":[{"name":"Center for Lysosomal and Metabolic Diseases, Department of Pediatrics Erasmus MC University Medical Center  Rotterdam The Netherlands"},{"name":"Center for Lysosomal and Metabolic Diseases, Department of Neurology Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. W. M. Pim","family":"Pijnappel","sequence":"additional","affiliation":[{"name":"Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3359-1324","authenticated-orcid":false,"given":"Ans T.","family":"van der Ploeg","sequence":"additional","affiliation":[{"name":"Center for Lysosomal and Metabolic Diseases, Department of Pediatrics Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,7,13]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2015.01.006"},{"key":"e_1_2_10_3_1","volume-title":"The Online Metabolic & Molecular Bases of Inherited Disease","author":"Reuser AJJ","year":"2018"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61555-X"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.11.033"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.2.332"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23854"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23878"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000251268.41188.04"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e3181b24e94"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9898-5"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2014_392"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0771-0"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.12.2145"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/labinvest.3700484"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)02533-2"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.113.5.e448"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10381"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.08.003"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9707-6"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9912-y"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182174703"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.70"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2019.100475"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2011.4"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.11.046"},{"key":"e_1_2_10_27_1","volume-title":"Echocardiography in Pediatric and Congenital Heart Disease West Sussex","author":"Colan S","year":"2009"},{"key":"e_1_2_10_28_1","volume-title":"Bayley scales of infant development","author":"Bayley N","year":"1993"},{"key":"e_1_2_10_29_1","volume-title":"Motor Assessment of the Developing Infant","author":"Piper MC","year":"1994"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.08.009"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0738-0"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198807000-00021"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2018-0336"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0067052"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.03.002"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2015.05.004"},{"key":"e_1_2_10_37_1","article-title":"Sustained immune tolerance induction in enzyme replacement therapy\u2010treated CRIM\u2010negative patients with infantile Pompe disease","volume":"2","author":"Kazi ZB","year":"2017","journal-title":"JCI Insight"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12268","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jimd.12268","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12268","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T15:53:27Z","timestamp":1693324407000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12268"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,13]]},"references-count":36,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["10.1002\/jimd.12268"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12268","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7,13]]},"assertion":[{"value":"2020-03-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-02","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}