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Neurol."],"abstract":"<jats:p>Pompe disease is an autosomal recessive lysosomal storage disorder caused by deficiency of acid alpha-glucosidase (GAA), leading to pathological glycogen accumulation in multiple tissues. This review synthesizes recent progress in understanding and managing Pompe disease, encompassing advances in newborn screening (NBS), novel biomarkers, next-generation enzyme replacement therapies (ERTs), gene therapy, and digital health technologies (DHTs) for monitoring. We also examine the associated economic burden and mortality patterns. Next-generation ERTs, including avalglucosidase alfa and cipaglucosidase alfa combined with miglustat, have improved outcomes and safety. Emerging strategies like transferrin receptor-mediated ERT and muscle-targeted adeno-associated virus (AAV) vectors show promise for overcoming current limitations, including central nervous system (CNS) involvement. DHTs enable sensitive detection of motor impairment even in presymptomatic stages. Despite progress, challenges remain in early detection, long-term management, and healthcare resource allocation. Future success requires integrated strategies combining NBS, innovative therapeutics, sensitive monitoring, and supportive policies.<\/jats:p>","DOI":"10.3389\/fneur.2026.1756935","type":"journal-article","created":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T05:18:33Z","timestamp":1771305513000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Comprehensive review of recent advances in Pompe disease: pathogenesis, management, and future directions"],"prefix":"10.3389","volume":"17","author":[{"given":"Guangrui","family":"Li","sequence":"first","affiliation":[{"name":"Department of Neurology, The First Hospital of Hebei Medical University","place":["Shijiazhuang, China"]},{"name":"Neuromedical Technology Innovation Center of Hebei Province","place":["Shijiazhuang, China"]},{"name":"Department of Infectious Diseases, The Third Hospital of Hebei Medical University","place":["Shijiazhuang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,2,17]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1342","DOI":"10.1016\/S0140-6736(08)61555-X","article-title":"Pompe's disease","volume":"372","author":"van der Ploeg","year":"2008","journal-title":"Lancet"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000218152.87434.f3","article-title":"Pompe disease diagnosis and management guideline","author":"Kishnani","year":"2006","journal-title":"Genet Med"},{"key":"B3","doi-asserted-by":"publisher","first-page":"177","DOI":"10.3389\/fnagi.2014.00177","article-title":"Pompe disease: from pathophysiology to therapy and back again","volume":"6","author":"Lim JA Li","year":"2014","journal-title":"Front Aging Neurosci"},{"key":"B4","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1001\/archneur.1972.00490100074007","article-title":"Comparative study of acid maltase deficiency. 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