{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T22:56:52Z","timestamp":1793055412842,"version":"4.5.0"},"reference-count":53,"publisher":"The Journal of Health Economics and Outcomes Research","issue":"1","license":[{"start":{"date-parts":[[2025,1,2]],"date-time":"2025-01-02T00:00:00Z","timestamp":1735776000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["jheor.org"],"crossmark-restriction":true},"short-container-title":[],"abstract":"\n Background<\/jats:title>\n Late-onset Pompe disease (LOPD) is a rare, autosomal recessive metabolic disorder that is heterogeneous in disease presentation and progression. People with LOPD report a significantly lower physical, psychological, and social quality of life (QoL) than the general population.<\/jats:p>\n <\/jats:sec>\n \n Objectives<\/jats:title>\n This study investigated how individuals\u2019 self-reported LOPD status (improving, stable, declining) relates to their QoL. Participant experiences such as use of mobility or ventilation aids, caregivers, symptomology, and daily life impacts were also characterized.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n A 2-part observational study was conducted online between October and December 2023 using the 36-item short-form tool (SF-36) and a survey. Adults with LOPD (N=41) from Australia, France, Italy, and the Netherlands were recruited.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n Participants reporting \u201cdeclining\u201d LOPD status (56%) had lower physical functioning SF-36 scores than those reporting as \u201cstable\u201d or \u201cimproving.\u201d Those self-reporting as stable or improving often described an acceptance of declining health in their responses. Physical functioning scores were generally stable in respondents who had been receiving enzyme replacement therapy (ERT) for 1-15 years, but those who had received ERT for >15 years had lower scores. Requiring ventilation and mobility aids had additive negative impacts on physical functioning. Difficulty swallowing, speaking, and scoliosis were the most burdensome symptoms reported by those on ERT for >15\u201325 years.<\/jats:p>\n <\/jats:sec>\n \n Discussion<\/jats:title>\n These results demonstrate the humanistic burden of LOPD; through declining physical functioning SF-36 scores over increasing time and increased use of aids, and also through factors related to self-reported LOPD status (where declining status was associated with lower scores) and symptomology variances. Taken holistically, these areas are valuable to explore when informing optimized care. Among a largely declining cohort, even those not self-reporting decline often assumed future deterioration, highlighting the need for improved therapies and the potential to initiate or switch ERT based on evolving symptomology and daily life impacts.<\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n Our results indicate that progressing LOPD leads to loss of QoL in ways that relate to time, use of aids, evolving symptomology, and the patient\u2019s own perspective. A holistic approach to assessing the individual can help ensure relevant factors are investigated and held in balance, supporting optimized care.<\/jats:p>\n <\/jats:sec>","DOI":"10.36469\/001c.126018","type":"journal-article","created":{"date-parts":[[2025,1,2]],"date-time":"2025-01-02T10:10:02Z","timestamp":1735812602000},"update-policy":"https:\/\/doi.org\/10.36469\/00001","source":"Crossref","is-referenced-by-count":3,"title":["Exploring Quality of Life in Adults Living With Late-onset Pompe Disease: A Combined Quantitative and Qualitative Analysis of Patient Perceptions from Australia, France, Italy, and the Netherlands"],"prefix":"10.36469","volume":"12","author":[{"given":"Holly","family":"Lumgair","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05n451y37","id-type":"ROR","asserted-by":"publisher"}],"name":"Amicus Therapeutics (United Kingdom)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Bashorum","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05n451y37","id-type":"ROR","asserted-by":"publisher"}],"name":"Amicus Therapeutics (United Kingdom)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alasdair","family":"MacCulloch","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05n451y37","id-type":"ROR","asserted-by":"publisher"}],"name":"Amicus Therapeutics (United Kingdom)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Minas","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05n451y37","id-type":"ROR","asserted-by":"publisher"}],"name":"Amicus Therapeutics (United Kingdom)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5302-3941","authenticated-orcid":false,"given":"George","family":"Timmins","sequence":"additional","affiliation":[{"name":"Consultant for Amicus Therapeutics, Inc"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Drago","family":"Bratkovic","sequence":"additional","affiliation":[{"name":"Women\u2019s and Children\u2019s Hospital, Adelaide, University of Adelaide"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8790-3170","authenticated-orcid":false,"given":"Richard","family":"Perry","sequence":"additional","affiliation":[{"name":"Adelphi Values PROVE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Medi","family":"Stone","sequence":"additional","affiliation":[{"name":"Adelphi Values PROVE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vasileios","family":"Blazos","sequence":"additional","affiliation":[{"name":"Adelphi Values PROVE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Conti","sequence":"additional","affiliation":[{"name":"AiGlico, Assago, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond","family":"Saich","sequence":"additional","affiliation":[{"name":"Australian Pompe Association, Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"22273","published-online":{"date-parts":[[2025,1,2]]},"reference":[{"issue":"1","key":"ref1","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1186\/s13023-021-01836-y","article-title":"Quality of life and its contributors among adults with late-onset Pompe disease in China","volume":"16","author":"S. Chen","year":"2021","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"ref2","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1186\/s12883-017-0983-2","article-title":"The humanistic burden of Pompe disease: are there still unmet needs? A systematic review","volume":"17","author":"B. Schoser","year":"2017","journal-title":"BMC Neurol"},{"issue":"10","key":"ref3","doi-asserted-by":"publisher","DOI":"10.3390\/ijms17101735","article-title":"Practical recommendations for diagnosis and management of respiratory muscle weakness in late-onset Pompe disease","volume":"17","author":"M. Boentert","year":"2016","journal-title":"Int J Mol Sci"},{"issue":"9-10","key":"ref4","doi-asserted-by":"publisher","first-page":"698","DOI":"10.1016\/j.nmd.2007.06.002","article-title":"Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients","volume":"17","author":"W. M\u00fcller-Felber","year":"2007","journal-title":"Neuromuscul Disord"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1186\/1750-1172-6-34","article-title":"Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy","volume":"6","author":"D. G\u00fcng\u00f6r","year":"2011","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"ref6","first-page":"182","article-title":"Recent developments, utilization, and spending trends for Pompe disease therapies","volume":"5","author":"J. Guo","year":"2012","journal-title":"Am Health Drug Benefits"},{"issue":"1","key":"ref7","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1016\/j.neurol.2022.12.004","article-title":"The new horizons for treatment of late-onset Pompe disease (LOPD)","volume":"179","author":"C. Gu\u00e9my","year":"2023","journal-title":"Rev Neurol"},{"key":"ref8","article-title":"Myozyme","author":"European Medicines Agency"},{"issue":"4","key":"ref9","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1016\/j.ymgme.2016.01.013","article-title":"Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5 years","volume":"117","author":"K. M. Stepien","year":"2016","journal-title":"Mol Genet Metab"},{"issue":"6","key":"ref10","doi-asserted-by":"publisher","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":"C. Semplicini","year":"2020","journal-title":"J Inherit Metab Dis"},{"issue":"9","key":"ref11","doi-asserted-by":"publisher","DOI":"10.3390\/biom13091279","article-title":"A comprehensive update on late-onset Pompe disease","volume":"13","author":"B. Labella","year":"2023","journal-title":"Biomolecules"},{"issue":"7","key":"ref12","doi-asserted-by":"publisher","first-page":"2482","DOI":"10.1007\/s00415-021-10409-9","article-title":"STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa","volume":"268","author":"K. Gutschmidt","year":"2021","journal-title":"J Neurol"},{"key":"ref13","article-title":"Nexviadyme","author":"European Medicines Agency"},{"key":"ref14","article-title":"Pombiliti","author":"European Medicines Agency"},{"key":"ref15","article-title":"Opfolda","author":"European Medicines Agency"},{"issue":"1","key":"ref16","doi-asserted-by":"publisher","first-page":"428","DOI":"10.1186\/s13023-021-02067-x","article-title":"Qualitative interviews to improve patient-reported outcome measures in late-onset Pompe disease: the patient perspective","volume":"16","author":"A. Hamed","year":"2021","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"ref17","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1007\/s10545-015-9889-6","article-title":"Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up","volume":"39","author":"D. G\u00fcng\u00f6r","year":"2016","journal-title":"J Inherit Metab Dis"},{"key":"ref18","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1016\/j.nmd.2022.07.148","article-title":"VP.32 Living with Pompe disease in the UK: characterising the patient journey; burden on physical and emotional quality of life; and impact of COVID-19","volume":"32","author":"A. Muir","year":"2022","journal-title":"Neuromusc Disord"},{"issue":"13","key":"ref19","doi-asserted-by":"publisher","first-page":"286","DOI":"10.21037\/atm.2019.06.60","article-title":"Diagnostic tools in late onset Pompe disease (LOPD)","volume":"7","author":"O. Musumeci","year":"2019","journal-title":"Ann Transl Med"},{"key":"ref20","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1186\/1750-1172-8-182","article-title":"Phenotypical variation within 22 families with Pompe disease","volume":"8","author":"S. C. Wens","year":"2013","journal-title":"Orphanet J Rare Dis"},{"key":"ref21","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/j.ymgmr.2017.05.005","article-title":"Letter to the Editors: Concerning \u201cDivergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state\u201d by Takashi et al. and Letter to the Editors by Ortolano et al.","volume":"12","author":"A. Sch\u00e4nzer","year":"2017","journal-title":"Mol Genet Metab Rep"},{"issue":"3","key":"ref22","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1016\/j.ymgme.2016.12.004","article-title":"The emerging phenotype of late-onset Pompe disease: a systematic literature review","volume":"120","author":"J. Chan","year":"2017","journal-title":"Mol Genet Metab"},{"issue":"4","key":"ref23","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1016\/j.ymgme.2013.05.021","article-title":"Pain in adult patients with Pompe disease: a cross-sectional survey","volume":"109","author":"D. G\u00fcng\u00f6r","year":"2013","journal-title":"Mol Genet Metab"},{"issue":"4","key":"ref24","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1007\/s41669-019-0142-3","article-title":"A systematic review of the health economics of Pompe disease","volume":"3","author":"B. Schoser","year":"2019","journal-title":"Pharmacoecon Open"},{"issue":"5","key":"ref25","doi-asserted-by":"publisher","first-page":"837","DOI":"10.1007\/s10545-012-9451-8","article-title":"36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy","volume":"35","author":"C. Regnery","year":"2012","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"ref26","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1186\/s13023-020-01469-7","article-title":"Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study","volume":"15","author":"M. Yuan","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"ref27","article-title":"36-Item Short Form Survey (SF-36) Scoring Instructions","author":"RAND"},{"issue":"10","key":"ref28","doi-asserted-by":"publisher","first-page":"e019993","DOI":"10.1136\/bmjopen-2017-019993","article-title":"Can rapid approaches to qualitative analysis deliver timely, valid findings to clinical leaders? A mixed methods study comparing rapid and thematic analysis","volume":"8","author":"B. Taylor","year":"2018","journal-title":"BMJ Open"},{"key":"ref29","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1186\/1471-2288-13-117","article-title":"Using the framework method for the analysis of qualitative data in multi-disciplinary health research","volume":"13","author":"N.K. Gale","year":"2013","journal-title":"BMC Med Res Methodol"},{"issue":"2","key":"ref30","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1111\/ene.12582","article-title":"Sleep-related symptoms and sleep-disordered breathing in adult Pompe disease","volume":"22","author":"M. Boentert","year":"2015","journal-title":"Eur J Neurol"},{"issue":"8","key":"ref31","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1016\/j.nmd.2008.05.015","article-title":"Factors that influence health-related quality of life in Australian adults with Charcot-Marie-Tooth disease","volume":"18","author":"A. C. Redmond","year":"2008","journal-title":"Neuromuscul Disord"},{"key":"ref32","doi-asserted-by":"publisher","first-page":"941","DOI":"10.2147\/PPA.S202773","article-title":"Real-world utilities and health-related quality-of-life data in hemophilia patients in France and the United Kingdom","volume":"13","author":"L. Carroll","year":"2019","journal-title":"Patient Prefer Adher"},{"issue":"13","key":"ref33","doi-asserted-by":"publisher","first-page":"278","DOI":"10.21037\/atm.2019.04.13","article-title":"Molecular genetics of Pompe disease: a comprehensive overview","volume":"7","author":"P. Peruzzo","year":"2019","journal-title":"Ann Transl Med"},{"key":"ref34","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1016\/j.ymgme.2011.07.006","article-title":"Bouwman MG, Maurice-Stam H, Linthorst GE, Hollak CEM, Wijburg FA, Grootenhuis MA","volume":"104","year":"2011","journal-title":"Mol Genet Metab"},{"issue":"11","key":"ref35","doi-asserted-by":"publisher","first-page":"1013","DOI":"10.1016\/S0895-4356(98)00093-6","article-title":"The French SF-36 Health Survey: translation, cultural adaptation and preliminary psychometric evaluation","volume":"51","author":"A. Lepl\u00e8ge","year":"1998","journal-title":"J Clin Epidemiol"},{"key":"ref36","article-title":"SF-36: interim norms for Australian data","author":"C. Stevenson"},{"issue":"11","key":"ref37","doi-asserted-by":"publisher","first-page":"1025","DOI":"10.1016\/S0895-4356(98)00094-8","article-title":"The Italian SF-36 Health Survey: translation, validation and norming","volume":"51","author":"G. Apolone","year":"1998","journal-title":"J Clin Epidemiol"},{"key":"ref38","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1186\/1477-7525-11-77","article-title":"Performance of the Dutch SF-36 version 2 as a measure of health-related quality of life in patients with rheumatoid arthritis","volume":"11","author":"P. M. ten Klooster","year":"2013","journal-title":"Health Qual Life Outcomes"},{"issue":"4","key":"ref39","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1007\/s00415-016-8219-8","article-title":"Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis","volume":"264","author":"B. Schoser","year":"2017","journal-title":"J Neurol"},{"issue":"9","key":"ref40","doi-asserted-by":"publisher","first-page":"1688","DOI":"10.1212\/01.wnl.0000142597.69707.78","article-title":"Late-onset Pompe disease primarily affects quality of life in physical health domains","volume":"63","author":"M. L. Hagemans","year":"2004","journal-title":"Neurology"},{"issue":"1","key":"ref41","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1186\/s41687-020-00245-2","article-title":"Use of the patient-reported outcomes measurement information system (PROMIS\u00ae) to assess late-onset Pompe disease severity","volume":"4","author":"M. Harfouche","year":"2020","journal-title":"J Patient Rep Outcomes"},{"key":"ref42","article-title":"Association of walking distance with quality of life and other patient-reported outcomes in Pompe disease. PCR67","author":"S. Raza"},{"issue":"1","key":"ref43","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1186\/s13023-020-01469-7","article-title":"Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study","volume":"15","author":"M. Yuan","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"ref44","article-title":"HGMD\u00ae home page","author":"(HGMD\u00ae) HGMD"},{"issue":"suppl 2","key":"ref45","doi-asserted-by":"publisher","first-page":"S235","DOI":"10.21037\/jtd-cus-2020-007","article-title":"Respiratory failure and sleep-disordered breathing in late-onset Pompe disease: a narrative review","volume":"12","author":"N. M. Shah","year":"2020","journal-title":"J Thorac Dis"},{"key":"ref46","doi-asserted-by":"publisher","first-page":"e16383","DOI":"10.1111\/ene.16383","article-title":"Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024","volume":"2024","author":"B. Schoser","journal-title":"Eur J Neurol"},{"issue":"2","key":"ref47","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1080\/00909882.2017.1288292","article-title":"Living with a rare health condition: the influence of a support community and public stigma on communication, stress, and available support","volume":"45","author":"X. Zhu","year":"2017","journal-title":"J Appl Commun Res"},{"issue":"12","key":"ref48","doi-asserted-by":"publisher","DOI":"10.1080\/13603116.2021.1888323","article-title":"The psychosocial impact of rare diseases among children and adolescents attending mainstream schools in Western Australia","volume":"27","author":"E. A. Adama","year":"2023","journal-title":"Int J Incl Educ"},{"issue":"1","key":"ref49","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1002\/ajmg.c.31322","article-title":"Toward deconstructing the phenotype of late-onset Pompe disease","volume":"160c","author":"A. Sch\u00fcller","year":"2012","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"pt 3","key":"ref50","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1093\/brain\/awh384","article-title":"Clinical manifestation and natural course of late-onset Pompe\u2019s disease in 54 Dutch patients","volume":"128","author":"M. L. Hagemans","year":"2005","journal-title":"Brain"},{"issue":"2","key":"ref51","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1016\/j.nmd.2008.11.007","article-title":"Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease","volume":"19","author":"N. A. M. E. Van der Beek","year":"2009","journal-title":"Neuromusc Disord"},{"issue":"10","key":"ref52","doi-asserted-by":"publisher","first-page":"2431","DOI":"10.1002\/ajmg.a.36110","article-title":"Timing of diagnosis of patients with Pompe disease: data from the Pompe registry","volume":"161a","author":"P. S. Kishnani","year":"2013","journal-title":"Am J Med Genet A"},{"issue":"4","key":"ref53","doi-asserted-by":"publisher","first-page":"968","DOI":"10.1007\/s00415-015-7664-0","article-title":"Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment","volume":"262","author":"F. Montagnese","year":"2015","journal-title":"J Neurol"}],"container-title":["Journal of Health Economics and Outcomes Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/jheor.org\/article\/126018-exploring-quality-of-life-in-adults-living-with-late-onset-pompe-disease-a-combined-quantitative-and-qualitative-analysis-of-patient-perceptions-from","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,16]],"date-time":"2025-12-16T19:54:09Z","timestamp":1765914849000},"score":1,"resource":{"primary":{"URL":"https:\/\/jheor.org\/article\/126018-exploring-quality-of-life-in-adults-living-with-late-onset-pompe-disease-a-combined-quantitative-and-qualitative-analysis-of-patient-perceptions-from"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,2]]},"references-count":53,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.36469\/001c.126018","relation":{},"ISSN":["2327-2236"],"issn-type":[{"value":"2327-2236","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,2]]}}}