{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T01:40:20Z","timestamp":1782870020857,"version":"3.54.5"},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,4,2]],"date-time":"2023-04-02T00:00:00Z","timestamp":1680393600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100015362","name":"Amicus Therapeutics","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015362","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100017117","name":"Denali Therapeutics","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100017117","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013995","name":"Sanofi Genzyme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013995","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100017547","name":"Spark Therapeutics","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100017547","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004243","name":"Prinses Beatrix Spierfonds","doi-asserted-by":"publisher","award":["W.OR15\u201010"],"award-info":[{"award-number":["W.OR15\u201010"]}],"id":[{"id":"10.13039\/501100004243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004243","name":"Prinses Beatrix Spierfonds","doi-asserted-by":"publisher","award":["W. OR13\u201021"],"award-info":[{"award-number":["W. OR13\u201021"]}],"id":[{"id":"10.13039\/501100004243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004243","name":"Prinses Beatrix Spierfonds","doi-asserted-by":"publisher","award":["OP07\u201008"],"award-info":[{"award-number":["OP07\u201008"]}],"id":[{"id":"10.13039\/501100004243","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":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pompe disease is a rare, progressive, and metabolic myopathy. Reduced pulmonary function is one of the main problems seen in adult patients with late\u2010onset Pompe disease (LOPD). We aimed to explore the association between changes over time in pulmonary function and in patient\u2010reported outcome measures (PROMs), in these patients treated with enzyme replacement therapy (ERT). This is a post hoc analysis of two cohort studies. Pulmonary function was assessed as forced vital capacity in the upright position (FVC<jats:sub>up<\/jats:sub>). As PROMs, we assessed the physical component summary score (PCS) of the Medical Outcome Study 36\u2010item Short\u2010Form Health Survey (SF\u201036) and daily life activities (Rasch\u2010Built Pompe\u2010Specific Activity [R\u2010PACT] scale). We fitted Bayesian multivariate mixed\u2010effects models. In the models of PROMs, we assumed a linear association with FVC<jats:sub>up<\/jats:sub>, and adjusted for time (nonlinear), sex, and age and disease duration at the start of ERT. One hundred and one patients were eligible for analysis. PCS and R\u2010PAct were positively associated with FVC<jats:sub>up<\/jats:sub>, while their relation with time was nonlinear (initial increase then decrease). A 1%\u2010point increase in FVC<jats:sub>up<\/jats:sub> is expected to increase PCS by 0.14 points (95% Credible Interval: [0.09;0.19]) and R\u2010PACT by 0.41 points [0.33;0.49] at the same time point. In the first year of ERT, we expect a change of PCS and R\u2010PAct scores by +0.42 and +0.80 points, and in the 5th year of +0.16 and +0.45, respectively. We conclude that the physical domain of quality of life and daily life activities improve when FVC<jats:sub>up<\/jats:sub> increases during ERT.<\/jats:p>","DOI":"10.1002\/jimd.12606","type":"journal-article","created":{"date-parts":[[2023,3,26]],"date-time":"2023-03-26T16:09:36Z","timestamp":1679846976000},"page":"595-604","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late\u2010onset Pompe disease"],"prefix":"10.1002","volume":"46","author":[{"given":"Aglina","family":"Lika","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Center for Lysosomal and Metabolic Diseases Erasmus MC University Medical Center  Rotterdam The Netherlands"},{"name":"Department of Biostatistics Erasmus MC University Medical Center  Rotterdam The Netherlands"},{"name":"Department of Epidemiology Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleni\u2010Rosalina","family":"Andrinopoulou","sequence":"additional","affiliation":[{"name":"Department of Biostatistics Erasmus MC University Medical Center  Rotterdam The Netherlands"},{"name":"Department of Epidemiology 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":"Department of Neurology, Center for Lysosomal and Metabolic Diseases Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimitris","family":"Rizopoulos","sequence":"additional","affiliation":[{"name":"Department of Biostatistics Erasmus MC University Medical Center  Rotterdam The Netherlands"},{"name":"Department of Epidemiology Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ans T.","family":"van der Ploeg","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Center for Lysosomal and Metabolic Diseases Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle E.","family":"Kruijshaar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Center for Lysosomal and Metabolic Diseases Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,4,2]]},"reference":[{"key":"e_1_2_12_2_1","volume-title":"The Online Metabolic and Molecular Bases of Inherited Disease","author":"Reuser AJJ","year":"2019"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9889-6"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000142597.69707.78"},{"issue":"6","key":"e_1_2_12_5_1","article-title":"European consensus for starting and stopping enzyme replacement therapy in adult patients with pompe disease: a 10\u2010year experience","volume":"24","author":"Ploeg AT","year":"2017","journal-title":"Eur J Neurol"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9451-8"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0909859"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-49"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9728-1"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-011-6293-5"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9201-8"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-009-5275-3"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2007.03.006"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01469-7"},{"key":"e_1_2_12_15_1","volume-title":"International Classification of Functioning, Disability and Health (ICF)","author":"World Health Organization","year":"2001"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000004711"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9751-2"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-73"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.166.4.518"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1183\/09041950.005s1693"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005650-199206000-00002"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0895-4356(98)00097-3"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2012.10.024"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000008441"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.01.013"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(21)00241-6"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/0197-2456(89)90005-6"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12606","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,16]],"date-time":"2023-08-16T21:03:15Z","timestamp":1692219795000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12606"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,2]]},"references-count":26,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,7]]}},"alternative-id":["10.1002\/jimd.12606"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12606","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4,2]]},"assertion":[{"value":"2022-09-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}