{"id":387,"date":"2024-01-19T00:00:00","date_gmt":"2024-01-19T00:00:00","guid":{"rendered":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2024.1309146"},"modified":"2024-01-19T00:00:00","modified_gmt":"2024-01-19T00:00:00","slug":"real-world-outcomes-from-a-series-of-patients-with-late-onset-pompe-disease-who-switched-from-alglucosidase-alfa-to-avalglucosidase-alfa","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2024\/01\/19\/real-world-outcomes-from-a-series-of-patients-with-late-onset-pompe-disease-who-switched-from-alglucosidase-alfa-to-avalglucosidase-alfa\/","title":{"rendered":"Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa"},"content":{"rendered":"<p><bold>Introduction:<\/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.<\/p><p><bold>Methods:<\/bold> A chart review was conducted on <italic>n<\/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.<\/p><p><bold>Results:<\/bold> A total of <italic>n<\/italic> = 8\/15 patients received alglucosidase for more than 3\u00a0years prior to switching, and <italic>n<\/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 (<italic>n<\/italic> = 8\/12, <italic>n<\/italic> = 11\/12, <italic>n<\/italic> = 9\/12, <italic>n<\/italic> =7\/11, respectively). Of <italic>n<\/italic> = 7 patients with pulmonary function testing, <italic>n<\/italic> = 4\/7 had improved upright FVC. Patient-reported outcomes revealed improvements in dyspnea (<italic>n<\/italic> = 4\/4), physical function (<italic>n<\/italic> = 3\/4), fatigue (<italic>n<\/italic> = 2\/3), and lower back pain (<italic>n<\/italic> = 3\/3). Avalglucosidase was well tolerated without infusion-associated reactions, and all <italic>n<\/italic> = 7 patients on home infusions continued receiving ERT at home. Anti-drug antibodies were seen in <italic>n<\/italic> = 9\/10 of patients on alglucosidase and <italic>n<\/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.<\/p><p><bold>Discussion:<\/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.<\/p>","protected":false},"excerpt":{"rendered":"<p>Introduction: 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&#8230;.<\/p>\n","protected":false},"author":86,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,12,13],"tags":[],"class_list":["post-387","post","type-post","status-publish","format-standard","hentry","category-articulos","category-enfermedades-raras","category-frontiers-in-genetics"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/387","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/users\/86"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=387"}],"version-history":[{"count":1,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/387\/revisions"}],"predecessor-version":[{"id":388,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/387\/revisions\/388"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=387"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=387"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=387"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}