{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T21:55:03Z","timestamp":1790805303360,"version":"4.1.0"},"reference-count":54,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2021,10,21]],"date-time":"2021-10-21T00:00:00Z","timestamp":1634774400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003810","name":"Hospital de Cl\u00ednicas de Porto Alegre","doi-asserted-by":"publisher","award":["2019-0495"],"award-info":[{"award-number":["2019-0495"]}],"id":[{"id":"10.13039\/501100003810","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Pompe disease (PD) is a glycogen storage disorder caused by deficient activity of acid alpha-glucosidase (GAA). We sought to review the latest available evidence on the safety and efficacy of recombinant human GAA enzyme replacement therapy (ERT) for late-onset PD (LOPD). Methods: We systematically searched the MEDLINE (via PubMed), Embase, and Cochrane databases for prospective clinical studies evaluating ERT for LOPD on pre-specified outcomes. A meta-analysis was also performed. Results: Of 1601 articles identified, 22 were included. Studies were heterogeneous and with very low certainty of evidence for most outcomes. The following outcomes showed improvements associated with GAA ERT, over a mean follow-up of 32.5 months: distance walked in the 6-min walking test (6MWT) (mean change 35.7 m (95% confidence interval [CI] 7.78, 63.75)), physical domain of the SF-36 quality of life (QOL) questionnaire (mean change 1.96 (95% CI 0.33, 3.59)), and time on ventilation (TOV) (mean change \u22122.64 h (95% CI \u22125.28, 0.00)). There were no differences between the pre- and post-ERT period for functional vital capacity (FVC), Walton and Gardner-Medwin Scale score, upper-limb strength, or total SF-36 QOL score. Adverse events (AEs) after ERT were mild in most cases. Conclusion: Considering the limitations imposed by the rarity of PD, our data suggest that GAA ERT improves 6MWT, physical QOL, and TOV in LOPD patients. ERT was safe in the studied population. PROSPERO register: 135102.<\/jats:p>","DOI":"10.3390\/jcm10214828","type":"journal-article","created":{"date-parts":[[2021,10,22]],"date-time":"2021-10-22T00:22:02Z","timestamp":1634862122000},"page":"4828","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8140-6496","authenticated-orcid":false,"given":"Al\u00edcia Dorneles","family":"Dornelles","sequence":"first","affiliation":[{"name":"Postgraduate Program in Medical Sciences, Faculty of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre CEP 90035003, Brazil"},{"name":"Medical Genetics Service, Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre CEP 90035903, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Paula Pedroso","family":"Junges","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre CEP 90035903, Brazil"},{"name":"Faculty of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre CEP 90035003, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiago Veiga","family":"Pereira","sequence":"additional","affiliation":[{"name":"Applied Health Research Centre, Li Ka Shing Knowledge Institute, St Michael\u2019s Hospital, Toronto, ON M5B 1T8, Canada"},{"name":"Department of Health Sciences, College of Medicine, University of Leicester, Leicester LE1 7RH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e1rbara Corr\u00eaa","family":"Krug","sequence":"additional","affiliation":[{"name":"Nuclimed, Clinical Research Center, Hospital de Clinicas de Porto Alegre, Porto Alegre CEP 90035903, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Candice Beatriz Treter","family":"Gon\u00e7alves","sequence":"additional","affiliation":[{"name":"Nuclimed, Clinical Research Center, Hospital de Clinicas de Porto Alegre, Porto Alegre CEP 90035903, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4308-3841","authenticated-orcid":false,"suffix":"Jr.","given":"Juan Clinton","family":"Llerena","sequence":"additional","affiliation":[{"name":"Instituto Fernandes Figueira, Fiocruz, Rio de Janeiro CEP 22250020, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priya Sunil","family":"Kishnani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Haliton Alves","family":"de Oliveira","sequence":"additional","affiliation":[{"name":"Health Technology Assessment Unit, Hospital Alem\u00e3o Oswaldo Cruz, S\u00e3o Paulo CEP 01323903, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ida Vanessa Doederlein","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Medical Sciences, Faculty of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre CEP 90035003, Brazil"},{"name":"Medical Genetics Service, Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre CEP 90035903, Brazil"},{"name":"Faculty of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre CEP 90035003, Brazil"},{"name":"Nuclimed, Clinical Research Center, Hospital de Clinicas de Porto Alegre, Porto Alegre CEP 90035903, Brazil"},{"name":"Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre CEP 91501970, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,10,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"S47","DOI":"10.1016\/j.jpeds.2009.07.006","article-title":"The Brazilian consensus on the management of Pompe disease","volume":"155","author":"Llerena","year":"2009","journal-title":"J. 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