{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T22:05:46Z","timestamp":1790633146220,"version":"4.1.0"},"reference-count":205,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T00:00:00Z","timestamp":1776729600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012190","name":"Ministry of Science and Higher Education of the Russian Federation","doi-asserted-by":"publisher","award":["This paper has been supported by the Kazan Federal University Strategic Academic Leadership Program (PRIORITY-2030)"],"award-info":[{"award-number":["This paper has been supported by the Kazan Federal University Strategic Academic Leadership Program (PRIORITY-2030)"]}],"id":[{"id":"10.13039\/501100012190","id-type":"DOI","asserted-by":"publisher"}]},{"award":["This paper has been supported by the Kazan Federal University Strategic Academic Leadership Program (PRIORITY-2030)"],"award-info":[{"award-number":["This paper has been supported by the Kazan Federal University Strategic Academic Leadership Program (PRIORITY-2030)"]}],"id":[{"id":"https:\/\/ror.org\/00ghqgy32","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Pompe disease (PD) is a neuromuscular autosomal recessive disorder caused by mutation in the GAA gene, which encodes acid \u03b1-glucosidase (GAA), an enzyme responsible for hydrolyzing glycogen to glucose. Deficiency of this enzyme leads to pathological accumulation of glycogen in almost all tissues of the body, with the most pronounced effects in cardiac and skeletal muscle, as well as in the central nervous system. Two major clinical forms of PD are recognized: infantile-onset PD, characterized by almost complete absence of GAA activity and severe cardiomyopathy and neurological abnormalities, and late-onset PD, which primarily presents with impairment of respiratory and motor function. Since 2006, enzyme replacement therapy with recombinant GAA has been used to treat PD, improving survival and quality of life. However, this approach has several limitations: the need for lifelong infusions, the risk of immune responses, and the inability of the enzyme to cross the blood\u2013brain barrier, which is particularly critical for infantile-onset PD. Consequently, alternative strategies are being developed, including gene therapy using adeno-associated virus vectors for GAA delivery to target tissues; these approaches are currently in phase I\/II clinical trials. Transplantation of genetically modified hematopoietic stem cells also represents a promising therapeutic strategy, offering a single-intervention treatment with long-lasting effects. This review discusses the molecular mechanisms of PD, current and emerging disease models, and therapeutic approaches, which together open prospects for the development of potentially one-time curative treatments, despite persistent challenges such as immunogenicity and the need for long-term efficacy monitoring.<\/jats:p>","DOI":"10.3390\/ijms27083703","type":"journal-article","created":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T16:10:44Z","timestamp":1776787844000},"page":"3703","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Pompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches"],"prefix":"10.3390","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-2486-0518","authenticated-orcid":false,"given":"Alexandra","family":"Sharshakova","sequence":"first","affiliation":[{"name":"Institute for Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alisa","family":"Fattakhova","sequence":"additional","affiliation":[{"name":"Institute for Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8776-3662","authenticated-orcid":false,"given":"Valeriya","family":"Solovyeva","sequence":"additional","affiliation":[{"name":"Institute for Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"Sufianov","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University), 119991 Moscow, Russia"},{"name":"The Research and Educational Institute of Neurosurgery, Peoples\u2019 Friendship University of Russia (RUDN), 117198 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Galina","family":"Sufianova","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Tyumen State Medical University, 625023 Tyumen, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grigorii","family":"Kutovoi","sequence":"additional","affiliation":[{"name":"Institute for Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9427-5739","authenticated-orcid":false,"given":"Albert","family":"Rizvanov","sequence":"additional","affiliation":[{"name":"Institute for Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia"},{"name":"Division of Medical and Biological Sciences, Tatarstan Academy of Sciences, 420111 Kazan, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,4,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ymgme.2011.02.004","article-title":"Pompe Disease: Design, Methodology, and Early Findings from the Pompe Registry","volume":"103","author":"Byrne","year":"2011","journal-title":"Mol. 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