{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T05:09:21Z","timestamp":1780549761489,"version":"3.54.1"},"reference-count":34,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T00:00:00Z","timestamp":1761609600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T00:00:00Z","timestamp":1761609600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100004948","name":"Astellas Pharma","doi-asserted-by":"publisher","award":["Not applicable"],"award-info":[{"award-number":["Not applicable"]}],"id":[{"id":"10.13039\/501100004948","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To describe the disease burden in patients with Pompe disease treated with enzyme replacement therapy (ERT) in the US as defined by comorbid conditions, supportive services, and treatment patterns.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A retrospective cohort study (01\/01\/2012\u201309\/30\/2022) was conducted using the Merative\u2122 MarketScan Research Databases. Inclusion criteria were: \u2265\u20092 outpatient or \u22651 inpatient claims of Pompe disease, \u2265\u20091 claim of ERT, and continuous enrollment in medical\/prescription coverage for \u226590 days before diagnosis date for patients \u22652 years and \u22651-month post-index date. Patients were stratified into infantile-onset Pompe disease (IOPD) or late-onset Pompe disease (LOPD) cohorts based on age at diagnosis and clinical presentation. Key comorbidities, supportive services, and treatment modifications were presented as cumulative incidence.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A total of 105 patients were included (IOPD: n\u2009=\u200950; LOPD: n\u2009=\u200955). For IOPD and LOPD groups, the 12-month cumulative incidence was 84.5% and 79.4% for respiratory, 57.4% and 54.3% for ambulatory, 67.8% and 33.4% for gastrointestinal, and 16.9% and 28.7% for cardiovascular comorbidities, respectively; 12-month cumulative incidence was 66.9% and 31.8% for physical therapy, 59.5% and 3.9% for speech therapy, 48.6% and 1.8% for immune tolerance induction or intravenous immunoglobulin, 47.3% and 11.2% for nutritional therapy, 15.1% and 17.0% for respiratory support, 27.8% and 3.7% for occupational therapy, and 8.3% and 11.1% for ambulatory support, respectively. Fourteen (IOPD: n\u2009=\u20092; LOPD: n\u2009=\u200912) patients switched ERT therapy, and 21 (IOPD: n\u2009=\u200914; LOPD: n\u2009=\u20097) had \u22651 dose modification.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Patients with Pompe disease demonstrate substantial comorbidity burden and utilization of supportive services despite ERT treatment.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/22143602251387210","type":"journal-article","created":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T15:16:48Z","timestamp":1761664608000},"page":"362-372","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States"],"prefix":"10.1177","volume":"13","author":[{"given":"Nishitha R","family":"Pillai","sequence":"first","affiliation":[{"name":"University of Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faryn","family":"Solomon","sequence":"additional","affiliation":[{"name":"Astellas Pharma Global Development, Inc., Northbrook, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4177-4590","authenticated-orcid":false,"given":"Robert D","family":"Steiner","sequence":"additional","affiliation":[{"name":"University of Wisconsin School of Medicine and Public Health"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bin","family":"Xie","sequence":"additional","affiliation":[{"name":"Astellas Pharma Global Development, Inc., Northbrook, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tmirah","family":"Haselkorn","sequence":"additional","affiliation":[{"name":"Astellas Pharma Global Development, Inc., Northbrook, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Young","sequence":"additional","affiliation":[{"name":"Astellas Pharma Global Development, Inc., Northbrook, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nigel","family":"Rozario","sequence":"additional","affiliation":[{"name":"Astellas Pharma Global Development, Inc., Northbrook, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Walzer","sequence":"additional","affiliation":[{"name":"Astellas Pharma Global Development, Inc., Northbrook, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2757-8131","authenticated-orcid":false,"given":"Benedikt","family":"Schoser","sequence":"additional","affiliation":[{"name":"Ludwig-Maximilians-University"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,10,28]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24148"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.21037\/atm.2019.04.49"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.21037\/atm.2019.05.29"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24272"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61555-X"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.3390\/biom10091339"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11940-022-00736-1"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000218152.87434.f3"},{"key":"e_1_3_3_10_2","volume-title":"GeneReviews\u00ae","author":"Sperry E, Leslie N, Berry L, et al.","year":"2007","unstructured":"Sperry E, Leslie N, Berry L, et al. Pompe disease. In: Adam MP, Feldman J, Mirzaa GM, et al. (eds) GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle, 2007; 1993\u20132025, https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1261\/."},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.2.332"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.11.033"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-02067-x"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.3390\/ph16091199"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-017-0983-2"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-016-8219-8"},{"key":"e_1_3_3_17_2","unstructured":"US Food and Drug Administration. 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