{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T04:04:48Z","timestamp":1793505888383,"version":"4.5.0"},"reference-count":37,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,1,19]],"date-time":"2024-01-19T00:00:00Z","timestamp":1705622400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p><jats:bold>Introduction:<\/jats:bold> Pompe disease is an inherited, progressive neuromuscular disorder caused by deficiency of lysosomal acid \u03b1-glucosidase and accumulation of glycogen in tissues, resulting in cellular dysfunction, muscle damage, and functional disabilities. Enzyme replacement therapy with alglucosidase alfa (Myozyme\/Lumizyme) has led to better outcomes, but many patients have plateaued or declined despite treatment. The second-generation ERT avalglucosidase alfa (Nexviazyme) was designed to have enhanced cellular uptake via the conjugation of additional bis-mannose-6-phosphate residues. There have been trials comparing the efficacy of alglucosidase and avalglucosidase, but there remains a need for more real-world data on patients who switched from alglucosidase to avalglucosidase.<\/jats:p><jats:p><jats:bold>Methods:<\/jats:bold> A chart review was conducted on <jats:italic>n<\/jats:italic> = 15 patients with late-onset Pompe disease followed at a single center who switched from alglucosidase to avalglucosidase and continued for at least 6\u00a0months.<\/jats:p><jats:p><jats:bold>Results:<\/jats:bold> A total of <jats:italic>n<\/jats:italic> = 8\/15 patients received alglucosidase for more than 3\u00a0years prior to switching, and <jats:italic>n<\/jats:italic> = 7\/15 received it for more than 5\u00a0years prior to switching. There were statistically significant improvements in CK, Hex4, and AST with mean differences of \u2212104.8\u00a0U\/L, \u22123.0\u00a0mmol\/molCr, and \u221214.7\u00a0U\/L, respectively, post-switch. 6-Minute Walk Test; comfortable gait speed; Gait, Stairs, Gower, Chair; and Quick Motor Function Test scores improved or stabilized in most patients post-switch (<jats:italic>n<\/jats:italic> = 8\/12, <jats:italic>n<\/jats:italic> = 11\/12, <jats:italic>n<\/jats:italic> = 9\/12, <jats:italic>n<\/jats:italic> =7\/11, respectively). Of <jats:italic>n<\/jats:italic> = 7 patients with pulmonary function testing, <jats:italic>n<\/jats:italic> = 4\/7 had improved upright FVC. Patient-reported outcomes revealed improvements in dyspnea (<jats:italic>n<\/jats:italic> = 4\/4), physical function (<jats:italic>n<\/jats:italic> = 3\/4), fatigue (<jats:italic>n<\/jats:italic> = 2\/3), and lower back pain (<jats:italic>n<\/jats:italic> = 3\/3). Avalglucosidase was well tolerated without infusion-associated reactions, and all <jats:italic>n<\/jats:italic> = 7 patients on home infusions continued receiving ERT at home. Anti-drug antibodies were seen in <jats:italic>n<\/jats:italic> = 9\/10 of patients on alglucosidase and <jats:italic>n<\/jats:italic> = 8\/13 of those on avalglucosidase, with titers below 12,800 in a majority of patients. We also present the first outcome data for a patient with LOPD who is non-ambulatory and a full-time wheelchair user; she demonstrated meaningful improvements in quality of life and motor function with the switch.<\/jats:p><jats:p><jats:bold>Discussion:<\/jats:bold> In summary, improved outcomes were seen in most patients, with a subset whose decline persisted. This study presents evidence that switching from alglucosidase to avalglucosidase may be associated with improved outcomes in certain patients with LOPD.<\/jats:p>","DOI":"10.3389\/fgene.2024.1309146","type":"journal-article","created":{"date-parts":[[2024,1,19]],"date-time":"2024-01-19T04:35:14Z","timestamp":1705638914000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":17,"title":["Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa"],"prefix":"10.3389","volume":"15","author":[{"given":"Chris","family":"Carter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy","family":"Boggs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura E.","family":"Case","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priya","family":"Kishnani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,1,19]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"831","DOI":"10.1002\/mus.23340","article-title":"New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy","volume":"45","author":"Angelini","year":"2012","journal-title":"Muscle Nerve"},{"key":"B2","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1164\/ajrccm.166.1.at1102","article-title":"ATS statement: guidelines for the six-minute walk test","volume":"166","year":"2002","journal-title":"Am. 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