{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T03:12:59Z","timestamp":1789269179833,"version":"build-2803163510"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,9,5]],"date-time":"2025-09-05T00:00:00Z","timestamp":1757030400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100020595","name":"National Science and Technology Council","doi-asserted-by":"publisher","award":["113\u20102314\u2010B\u2010075\u2010069"],"award-info":[{"award-number":["113\u20102314\u2010B\u2010075\u2010069"]}],"id":[{"id":"10.13039\/100020595","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011912","name":"Taipei Veterans General Hospital","doi-asserted-by":"publisher","award":["V114C\u2010129"],"award-info":[{"award-number":["V114C\u2010129"]}],"id":[{"id":"10.13039\/501100011912","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004339","name":"Sanofi","doi-asserted-by":"publisher","award":["NCT05017402"],"award-info":[{"award-number":["NCT05017402"]}],"id":[{"id":"10.13039\/100004339","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Pompe disease (PD), a severe inherited metabolic myopathy caused by the deficiency of acid \u03b1\u2010glucosidase (GAA), is characterized by progressive myopathy with reduced muscle strength, endurance, and respiratory insufficiency. The primary GAA deficiency treatment is enzyme replacement therapy (ERT) with alglucosidase alfa; however, its long\u2010term efficacy seems to diminish with time. In 2021, a new ERT medication, avalglucosidase alfa, was approved for patients over 6\u2009months of age with PD in Taiwan. This study presents the first real\u2010world data focusing on improvements in airway abnormalities through a multifaceted analysis. A 19\u2010year\u2010old male patient was diagnosed with late\u2010onset PD 6\u2009years and 8\u2009months ago and treated with alglucosidase alfa for 52\u2009months before switching to avalglucosidase alfa for 28\u2009months. Multifaceted clinical performance metrics, including airway abnormalities, were recorded using a flexible bronchoscope. The therapy switch improved airway abnormalities, as demonstrated by flexible bronchoscopy in polysomnography results, activity endurance, core muscle strength, body mass index, and disease\u2010specific biomarkers, including creatine kinase, aspartate transaminase, and urinary glucose tetrasaccharide (Glc4) levels. This study highlights the potential benefits of avalglucosidase alfa in managing respiratory outcomes in patients with late\u2010onset PD, suggesting its promising effects for long\u2010term treatment.<\/jats:p>","DOI":"10.1002\/ajmg.a.64230","type":"journal-article","created":{"date-parts":[[2025,9,6]],"date-time":"2025-09-06T06:04:34Z","timestamp":1757138674000},"page":"229-234","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Marked Improvements in Airway Abnormalities and Multifaceted Outcomes After 2\u2009Years Switching to Avalglucosidase Alfa: Evaluation of A 19\u2010Year\u2010Old Male Diagnosed With Late\u2010Onset Pompe Disease"],"prefix":"10.1002","volume":"200","author":[{"given":"Chih\u2010Hsuan","family":"Lu","sequence":"first","affiliation":[{"name":"Department of Pediatrics Taipei Veterans General Hospital  Taipei 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