ReviewFrontiers in neurology
Comprehensive review of recent advances in Pompe disease: pathogenesis, management, and future directions.
Review in Frontiers in neurology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Abstract
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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.