{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T07:25:31Z","timestamp":1791444331307,"version":"4.3.3"},"reference-count":42,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T00:00:00Z","timestamp":1731456000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T00:00:00Z","timestamp":1731456000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/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"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Patient Rep Outcomes"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Late-onset Pompe disease (LOPD), a rare autosomal recessive multisystemic disorder, substantially impacts patients\u2019 day-to-day activities, outcomes, and health-related quality of life (HRQoL). The PROPEL trial compared cipaglucosidase alfa plus miglustat (cipa+mig) with alglucosidase alfa plus placebo (alg+pbo) in adult patients with LOPD over 52\u00a0weeks and showed improved motor and respiratory function in patients switching treatment from standard-of-care enzyme replacement therapy (ERT) to cipa+mig at baseline. This study evaluated the impact of cipa+mig on patient-reported outcomes (PROs), including HRQoL in ERT-experienced patients, using data from PROPEL.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>PROs evaluated included the Subject\u2019s Global Impression of Change (SGIC), Patient-Reported Outcomes Measurement Information System (PROMIS) Physical Function Short Form 20a, PROMIS Fatigue Short Form 8a, Rasch-built Pompe-specific Activity (R-PAct), and European Quality of Life-5 Dimensions 5 Response Levels (EQ-5D-5L). The proportions of responders in the cipa+mig arm and the alg+pbo arm were compared via chi-squared or Fisher\u2019s exact test (patient-level responder analysis), and least squares (LS) mean differences were calculated for change from baseline at Week 52 of the PRO measures (group-level analysis).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>At Week 52, patient-level SGIC responder and group-level SGIC analyses favored cipa+mig compared with alg+pbo across all SGIC domains (e.g. 90 vs. 59% responders in the cipa+mig vs. the alg+pbo group for SGIC ability to move around; <jats:italic>P<\/jats:italic>\u2009=\u20090.0005; and LS mean difference 0.385; <jats:italic>P<\/jats:italic>\u2009=\u20090.02). Similarly, PROMIS Physical Function and Fatigue domains numerically favored cipa+mig in both analyses (e.g. 50 vs. 40% responders in the cipa+mig vs. alg+pbo arm for PROMIS Physical Function; <jats:italic>P<\/jats:italic>\u2009=\u20090.37; and LS mean difference 3.1; <jats:italic>P<\/jats:italic>\u2009=\u20090.11). R-PAct for both treatment groups was similar in the patient-level responder analysis, but numerically favored alg+pbo in the group-level analysis (35% responders in both arms; <jats:italic>P<\/jats:italic>\u2009=\u20090.95; and LS mean difference \u22120.8; <jats:italic>P<\/jats:italic>\u2009=\u20090.48). Self-care, usual activities, and depression\/anxiety domains of EQ-5D-5L numerically favored cipa+mig in both analyses (e.g. 20 vs. 12% responders in the cipa+mig vs. alg+pbo arm for EQ-5D-5L self-care; <jats:italic>P<\/jats:italic>\u2009=\u20090.54; and LS mean difference \u22120.108; <jats:italic>P<\/jats:italic>\u2009=\u20090.52).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Overall, switching treatment from alglucosidase alfa to cipa+mig positively impacted PRO measurements during the double-blind period of PROPEL.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Trial registration<\/jats:title>\n                <jats:p>NCT03729362; Registration date: November 1, 2018; <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/clinicaltrials.gov\/study\/NCT03729362\">https:\/\/clinicaltrials.gov\/study\/NCT03729362<\/jats:ext-link><\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s41687-024-00805-w","type":"journal-article","created":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T09:02:18Z","timestamp":1731488538000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease"],"prefix":"10.1186","volume":"8","author":[{"given":"Priya S.","family":"Kishnani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barry 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All participants provided written informed consent before participating in the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"KGC received research funding from Alnylam, Biogen, Pfizer, Roche, Sanofi Genzyme; advisory board member honoraria from Alexion, Alnylam, Amicus Therapeutics, Inc., argenx, Biogen, Ipsen, Janssen Pharmaceutics, Lupin, Pfizer, Roche, Sanofi Genzyme and UCB; and is Chairholder of the Emil von Behring Chair for Neuromuscular and Neurodegenerative Disorders by CSL Behring. BJB reports consultant\/advisory board membership for Pfizer, Amicus Therapeutics, Inc., and Sanofi; and owns stocks in Lacerta Therapeutics. JD-M reports consulting fees\/honoraria from Sarepta, Sanofi, Audentes; has received grant support from Sanofi, Spark and Boehringer Ingelheim; and payment for speaking from Sanofi, Sarepta and Lupin. MMD serves or recently served as a consultant for Abata\/Third Rock, Abcuro, Amicus Therapeutics, Inc., argenx, Astellas, Cabaletta Bio, Catalyst, CNSA, Covance\/Labcorp, CSL Behring, Dianthus, Horizon, EMD Serono\/Merck, Ig Society, Inc, Janssen Pharmaceuticals, Medlink, Octapharma, Priovant, Sanofi Genzyme, Shire Takeda, TACT\/Treat NMD, UCB Biopharma, Valenza Bio and Wolters Kluwer Health\/UpToDate; and has received research grants or contracts, or educational grants from Alexion\/AstraZeneca, Alnylam Pharmaceuticals, Amicus Therapeutics, Inc., argenx, Bristol-Myers Squibb, Catalyst, CSL Behring, FDA\/OOPD, GlaxoSmithKline, Genentech, Grifols, Mitsubishi Tanabe Pharma, MDA, NIH, Novartis, Octapharma, Orphazyme, Ra Pharma\/UCB, Sanofi Genzyme, Sarepta Therapeutics, Shire Takeda, Spark Therapeutics, The Myositis Association, and UCB Biopharma\/RaPharma. PSK has received research\/grant support from Sanofi Genzyme and Amicus Therapeutics, Inc., and has received consulting fees and honoraria from Sanofi Genzyme, Amicus Therapeutics, Inc., JCR Pharmaceuticals, Bayer and Asklepios Biopharmaceutical, Inc. (AskBio). She is a member of the Pompe and Gaucher Disease Registry Advisory Board for Sanofi Genzyme, Pompe Disease Advisory Board for Amicus Therapeutics, Inc., and Advisory Board for Baebies. She has held equity in Asklepios Biopharmaceuticals and may receive milestone payments related to that equity in the future. HK served as a consultant for Alexion AstraZeneca Rare disease, argenx, UCB, Immunovant, Sanofi, and has received research grants or educational grants from Sanofi, MDA, and Healey ALS platform trial. TM has participated in an advisory capacity for Abbvie, Alexion, Amicus Therapeutics, Inc., Annji, argenx, Arvinas, Audentes, Cabaletta, Maze Therapeutics, Momenta, Ra Pharmaceuticals, Sanofi Genzyme, Sarepta, Spark Therapeutics, and UCB. He is a member of the medical advisory board for the Myositis Association, Neuromuscular Disease Foundation, Myasthenia Gravis Foundation of California and Myasthenia Gravis Foundation of America. He has received research funding from the Myositis Association, the Muscular Dystrophy Association, the NIH and from the following sponsors: Alexion, Amicus Therapeutics, Inc., Annji, argenx, Audentes, Bristol-Myers Squib, Cabaletta, Cartesian Therapeutics, Grifols, Momenta, Ra Pharmaceuticals, Sanofi Genzyme, Spark Therapeutics, UCB, and Valerion. He is a member of the data safety monitoring board for Acceleron, Applied Therapeutics, Sarepta, and the NIH. MR has received honoraria for educational symposia from Sanofi Genzyme and Amicus Therapeutics, Inc., and for participation on advisory boards for Sanofi, and Amicus Therapeutics, Inc. BS has received unrestricted research grants from Amicus Therapeutics, Inc., Astellas, Roche, Marigold Foundation, AMDA Foundation and speaker\u2019s honoraria from Amicus Therapeutics, Inc., Alexion, Kedrion, and Sanofi. He has participated as a scientific adviser for Amicus Therapeutics, Inc., argenx, Astellas, Bayer, Maze, Pepgen, Sanofi, and Spark. He declares no stocks or shares. NH and AK are employees of Certara, which is a paid consultant to Amicus Therapeutics, Inc. FH and SS are employees of and hold stock in Amicus Therapeutics, Inc. AT has received honorarium for educational talks from Sanofi Genzyme and Amicus Therapeutics, Inc. and for participation on advisory boards for Sanofi, Amicus Therapeutics, Inc., Aro and Spark. He is a member of the European Reference Network for Neuromuscular Disorders (EU-NMD)\u2013 Project ID 739543.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"132"}}