{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:22:53Z","timestamp":1790677373596,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,1,17]],"date-time":"2014-01-17T00:00:00Z","timestamp":1389916800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["faseb.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The FASEB Journal"],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Effective dosages for enzyme replacement therapy (ERT) in Pompe disease are much higher than for other lysosomal storage disorders, which has been attributed to low cation\u2010independent mannose\u20106\u2010phosphate receptor (CI\u2010MPR) in skeletal muscle. We have previously demonstrated the benefit of increased CI\u2010MPR\u2010mediated uptake of recombinant human acid\u2010\u03b1\u2010glucosidase during ERT in mice with Pompe disease following addition of albuterol therapy. Currently we have completed a pilot study of albuterol in patients with late\u2010onset Pompe disease already on ERT for &gt;2 yr, who were not improving further. The 6\u2010min walk test (6MWT) distance increased in all 7 subjects at wk 6 (30\u00b113 m;\n                    <jats:italic>P<\/jats:italic>\n                    =0.002), wk 12 (34\u00b114 m;\n                    <jats:italic>P<\/jats:italic>\n                    =0.004), and wk 24 (42\u00b137 m;\n                    <jats:italic>P<\/jats:italic>\n                    =0.02), in comparison with baseline. Grip strength was improved significantly for both hands at wk 12. Furthermore, individual subjects reported benefits;\n                    <jats:italic>e.g<\/jats:italic>\n                    ., a female patient could stand up from sitting on the floor much more easily (time for supine to standing position decreased from 30 to 11 s), and a male patient could readily swing his legs out of his van seat (hip abduction increased from 1 to 2+ on manual muscle testing). Finally, analysis of the quadriceps biopsies suggested increased CI\u2010MPR at wk 12 (\n                    <jats:italic>P<\/jats:italic>\n                    =0.08), compared with baseline. With the exception of 1 patient who succumbed to respiratory complications of Pompe disease in the first week, only mild adverse events have been reported, including tremor, transient difficulty falling asleep, and mild urinary retention (requiring early morning voiding). Therefore, this pilot study revealed initial safety and efficacy in an open label study of adjunctive albuterol therapy in patients with late\u2010onset Pompe disease who had been stable on ERT with no improvements noted over the previous several years.\u2014Koeberl, D. D., Austin, S., Case, L. E., Smith, E. C., Buckley, A. F., Young, S. P., Bali, D., Kishnani, P. S. Adjunctive albuterol enhances the response to enzyme replacement therapy in late\u2010onset Pompe disease.\n                    <jats:italic>FASEB J<\/jats:italic>\n                    . 28, 2171\u20132176 (2014).\n                    <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.fasebj.org\">www.fasebj.org<\/jats:ext-link>\n                  <\/jats:p>","DOI":"10.1096\/fj.13-241893","type":"journal-article","created":{"date-parts":[[2014,1,17]],"date-time":"2014-01-17T23:54:10Z","timestamp":1390002850000},"page":"2171-2176","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Adjunctive albuterol enhances the response to enzyme replacement therapy in late\u2010onset Pompe disease"],"prefix":"10.1096","volume":"28","author":[{"given":"Dwight D.","family":"Koeberl","sequence":"first","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics Duke University Medical Center Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Austin","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics Duke University Medical Center Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura E.","family":"Case","sequence":"additional","affiliation":[{"name":"Division of Physical Therapy Department of Community and Family Medicine Duke University Medical Center Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward C.","family":"Smith","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics Department of Pediatrics Duke University Medical Center Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne F.","family":"Buckley","sequence":"additional","affiliation":[{"name":"Department of Pathology Duke University Medical Center Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah P.","family":"Young","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics Duke University Medical Center Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deeksha","family":"Bali","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics Duke University Medical Center Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priya S.","family":"Kishnani","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics Duke University Medical Center Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,1,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2003.08.022"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2004.09.017"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.02.006"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.11.005"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1249\/00005768-199511000-00002"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.8.1434"},{"key":"e_1_2_6_8_1","first-page":"71","article-title":"Adult acid maltase deficiency: an open trial with albuterol and branched-chain aminoacids","volume":"14","author":"Angelini C.","year":"2004","journal-title":"Basic Appl. 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