{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T15:07:25Z","timestamp":1785510445226,"version":"3.56.0"},"reference-count":34,"publisher":"Becaris Publishing Limited","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. Comp. Eff. Res."],"published-print":{"date-parts":[[2026,8]]},"abstract":"\n Aim:<\/jats:bold>\n Late-onset Pompe disease (LOPD) is a rare lysosomal disease primarily impacting muscle strength and respiratory function. LOPD has a substantial burden despite the availability of alglucosidase alfa (alg). Patients often require mobility and respiratory support over time. Cipaglucosidase alfa in combination with miglustat (cipa\u00a0+\u00a0mig) is one of two more recently approved treatments for adults with LOPD. Given limited data on the lifetime trajectory to mobility and respiratory support in LOPD, a patient-level simulation model was developed to compare the long-term impact of cipa\u00a0+\u00a0mig with alg on these outcomes.\n Materials & methods:<\/jats:bold>\n The patient-level simulation predicts lifetime mobility and respiratory disease progression outcomes based on the 6-min walk distance and %predicted forced vital capacity for alg and cipa\u00a0+\u00a0mig for the overall LOPD population using available data and assumptions from experienced clinicians. PROPEL\/PROPEL open-label extension (\n NCT03729362<\/jats:ext-link>\n ) and ATB200-02 (\n NCT02675465<\/jats:ext-link>\n ) studies informed outcomes for four years with cipa\u00a0+\u00a0mig and one year with alg. French Pompe disease registry data were used thereafter.\n Results:<\/jats:bold>\n Based on the available data and clinical assumptions, the model predicts cipa\u00a0+\u00a0mig slows the overall progression of LOPD, allowing patients an additional 2.72\u00a0years without mobility or respiratory support compared with alg. People receiving alg may be wheelchair dependent and require invasive respiratory support for an additional 2.57 and 1.55\u00a0years, respectively.\n Conclusion:<\/jats:bold>\n Cipa\u00a0+\u00a0mig may delay disease progression compared with alg over the lifetime of a patient with LOPD, which would increase the amount of time spent without mobility and respiratory support dependency.\n <\/jats:p>","DOI":"10.57264\/cer-2025-0202","type":"journal-article","created":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T10:43:01Z","timestamp":1784112181000},"source":"Crossref","is-referenced-by-count":0,"title":["A disease progression model comparing the long-term mobility and respiratory outcomes of adults with late-onset Pompe disease receiving cipaglucosidase alfa plus miglustat versus alglucosidase alfa"],"prefix":"10.57264","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8519-6537","authenticated-orcid":false,"given":"Amy","family":"Dymond","sequence":"first","affiliation":[{"name":"York Health Economics Consortium, York, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9004-1951","authenticated-orcid":false,"given":"Will","family":"Green","sequence":"additional","affiliation":[{"name":"York Health Economics Consortium, York, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Crabtree","sequence":"additional","affiliation":[{"name":"Amicus Therapeutics UK Ltd, Marlow, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alasdair","family":"MacCulloch","sequence":"additional","affiliation":[{"name":"Amicus Therapeutics UK Ltd, Marlow, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil","family":"Johnson","sequence":"additional","affiliation":[{"name":"Amicus Therapeutics UK Ltd, Marlow, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Shohet","sequence":"additional","affiliation":[{"name":"Formerly, Amicus Therapeutics UK Ltd, Marlow, UK; Currently, Molecular Economics Ltd, Hitchin, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera","family":"Gielen","sequence":"additional","affiliation":[{"name":"Amicus Therapeutics UK Ltd, Marlow, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Clarke","sequence":"additional","affiliation":[{"name":"Amicus Therapeutics UK Ltd, Marlow, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Deegan","sequence":"additional","affiliation":[{"name":"Department of Medicine, Addenbrookes Hospital, University of Cambridge, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordi","family":"Diaz-Manera","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Center, Newcastle University & Translational & Clinical Research Institute, Newcastle Upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"36897","reference":[{"issue":"6","key":"e_1_3_6_2_2","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1111\/ene.13285","article-title":"European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience","volume":"24","author":"van der Ploeg AT","year":"2017","unstructured":"van der Ploeg AT, Kruijshaar ME, Toscano A European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience. Eur. J. Neurol. 24(6), 768\u2013e31 (2017).","journal-title":"Eur. J. Neurol."},{"issue":"5","key":"e_1_3_6_3_2","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1097\/01.gim.0000218152.87434.f3","article-title":"Pompe disease diagnosis and management guideline","volume":"8","author":"Kishnani PS","year":"2006","unstructured":"Kishnani PS, Steiner RD, Bali D Pompe disease diagnosis and management guideline. Genet. Med. 8(5), 267\u2013288 (2006).","journal-title":"Genet. Med."},{"issue":"8","key":"e_1_3_6_4_2","first-page":"497","article-title":"Clinical guidelines for late-onset Pompe disease","volume":"54","author":"Barba-Romero MA","year":"2012","unstructured":"Barba-Romero MA, Barrot E, Bautista-Lorite J Clinical guidelines for late-onset Pompe disease. Rev. Neurol. 54(8), 497\u2013507 (2012).","journal-title":"Rev. Neurol."},{"key":"e_1_3_6_5_2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1750-1172-8-49","article-title":"Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study","volume":"8","author":"G\u00fcng\u00f6r D","year":"2013","unstructured":"G\u00fcng\u00f6r D, Kruijshaar ME, Plug I Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study. Orphanet J. Rare Dis. 8, 1\u20137 (2013).","journal-title":"Orphanet J. Rare Dis."},{"issue":"2","key":"e_1_3_6_6_2","doi-asserted-by":"crossref","first-page":"80","DOI":"10.36469\/jheor.2024.121928","article-title":"Health-related quality-of-life utility values in adults with late-onset Pompe disease: analyses of EQ-5D data from the PROPEL clinical trial","volume":"11","author":"MacCulloch A","year":"2024","unstructured":"MacCulloch A, Griffiths A, Johnson N, Shohet S. Health-related quality-of-life utility values in adults with late-onset Pompe disease: analyses of EQ-5D data from the PROPEL clinical trial. J. Health Econ. Outcomes Res. 11(2), 80 (2024).","journal-title":"J. Health Econ. Outcomes Res."},{"key":"e_1_3_6_7_2","doi-asserted-by":"crossref","first-page":"1221140","DOI":"10.3389\/fped.2023.1221140","article-title":"An analysis of Pompe newborn screening data: a new prevalence at birth, insight and discussion","volume":"11","author":"Colburn R","year":"2024","unstructured":"Colburn R, Lapidus D. An analysis of Pompe newborn screening data: a new prevalence at birth, insight and discussion. Front. Pediatrics 11, 1221140 (2024).","journal-title":"Front. 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(2006). https:\/\/www.accessdata.fda.gov\/drugsatfda_docs\/label\/2014\/125141s219lbl.pdf"},{"issue":"6","key":"e_1_3_6_11_2","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1002\/jimd.12272","article-title":"Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry","volume":"43","author":"Semplicini C","year":"2020","unstructured":"Semplicini C, De Antonio M, Taouagh N Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry. J. Inherit. Metab. Dis. 43(6), 1219\u20131231 (2020).","journal-title":"J. Inherit. Metab. Dis."},{"key":"e_1_3_6_12_2","doi-asserted-by":"crossref","first-page":"3038","DOI":"10.1007\/s00415-020-09936-8","article-title":"Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start","volume":"267","author":"Stockton DW","year":"2020","unstructured":"Stockton DW, Kishnani P, van der Ploeg A Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start. J. Neurol. 267, 3038\u20133053 (2020).","journal-title":"J. Neurol."},{"key":"e_1_3_6_13_2","unstructured":"European Medicines Agency. Pombiliti. (2023). https:\/\/www.ema.europa.eu\/en\/medicines\/human\/EPAR\/pombiliti"},{"key":"e_1_3_6_14_2","unstructured":"Food and Drug Administration. POMBILITI (cipaglucosidase alfa-atga) for injection for intravenous use. 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(2023). https:\/\/www.nice.org.uk\/guidance\/ta912\/chapter\/4-Implementation"},{"key":"e_1_3_6_19_2","volume-title":"NICE DSU Technical Support Document 15: Cost-effectiveness modelling using patient-level simulation","author":"Davis S","year":"2014","unstructured":"Davis S, Stevenson M, Tappenden P, Wailoo A. NICE DSU Technical Support Document 15: Cost-effectiveness modelling using patient-level simulation. National Institute for Health and Care Excellence (NICE), UK (2014)."},{"key":"e_1_3_6_20_2","unstructured":"National Institute for Health and Care Excellence. Asfotase alfa for treating paediatric-onset hypophosphatasia. (2023). https:\/\/www.nice.org.uk\/guidance\/hst23"},{"key":"e_1_3_6_21_2","unstructured":"National Institute for Health and Care Excellence. Pirfenidone for treating idiopathic pulmonary fibrosis. 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Neurol."},{"issue":"23","key":"e_1_3_6_24_2","doi-asserted-by":"crossref","first-page":"2365","DOI":"10.1212\/WNL.0000000000004711","article-title":"Long-term benefit of enzyme replacement therapy in Pompe disease: a 5-year prospective study","volume":"89","author":"Kuperus E","year":"2017","unstructured":"Kuperus E, Kruijshaar ME, Wens SC Long-term benefit of enzyme replacement therapy in Pompe disease: a 5-year prospective study. Neurology 89(23), 2365\u20132373 (2017).","journal-title":"Neurology"},{"key":"e_1_3_6_25_2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.nmd.2023.10.001","article-title":"Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry","volume":"34","author":"Martinez-Marin RJ","year":"2024","unstructured":"Martinez-Marin RJ, Reyes-Leiva D, Nascimento A Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry. Neuromuscul. Disord. 34, 1\u20138 (2024).","journal-title":"Neuromuscul. Disord."},{"key":"e_1_3_6_26_2","unstructured":"Office for National Statistics. National Life Tables UK 2018 to 2020. https:\/\/www.ons.gov.uk\/peoplepopulationandcommunity\/birthsdeathsandmarriages\/lifeexpectancies\/datasets\/nationallifetablesunitedkingdomreferencetables"},{"issue":"12","key":"e_1_3_6_27_2","doi-asserted-by":"crossref","first-page":"S21","DOI":"10.1016\/j.jval.2022.09.100","article-title":"CO20 predicted time to wheelchair and ventilation events comparing avalglucosidase Alfa (AVA) versus (vs) alglucosidase Alfa (ALG) using a model of late-onset Pompe disease (LOPD)","volume":"25","author":"Fournier M","year":"2022","unstructured":"Fournier M, Caro J, Coughlan A CO20 predicted time to wheelchair and ventilation events comparing avalglucosidase Alfa (AVA) versus (vs) alglucosidase Alfa (ALG) using a model of late-onset Pompe disease (LOPD). 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