{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,8]],"date-time":"2024-05-08T00:35:54Z","timestamp":1715128554437},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,5,7]],"date-time":"2024-05-07T00:00:00Z","timestamp":1715040000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,5,7]],"date-time":"2024-05-07T00:00:00Z","timestamp":1715040000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Astellas Gene Therapies","award":["Astellas Gene Therapies"],"award-info":[{"award-number":["Astellas Gene Therapies"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital disease, which is not well-defined. To our knowledge, no studies characterizing the XLMTM disease burden have been conducted in Brazil. We identified and described patients with suspected XLMTM using administrative claims data from the Brazilian public healthcare system.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Data from 2015 to 2019 were extracted from the DATASUS database. As no XLMTM-specific ICD-10 code was available, a stepwise algorithm was applied to identify patients with suspected XLMTM by selecting male patients with a congenital myopathies code (G71.2), aged\u2009&lt;\u200918 years at index date (first claim of G71.2), with an associated diagnostic procedure (muscle biopsy\/genetic test) and without spinal muscular atrophy or Duchenne muscular dystrophy. We attempted to identify patients with suspected severe XLMTM based on use of both respiratory and feeding support, which are nearly universal in the care of XLMTM patients. Analyses were performed for the overall cohort and stratified by age at index date\u2009&lt;\u20095 years old and \u2265\u20095 years old.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Of 173 patients with suspected XLMTM identified, 39% were &lt;\u20095 years old at index date. Nearly all (<jats:italic>N<\/jats:italic>\u2009=\u2009166) patients (96%) were diagnosed by muscle biopsy (91% of patients\u2009&lt;\u20095 years old and 99% of patients\u2009\u2265\u20095 years old), six (3.5%) were diagnosed by clinical evaluation (8% of patients\u2009&lt;\u20095 years old and 1% of patients\u2009\u2265\u20095 years old), and one was diagnosed by a genetic test. Most patients lived in Brasilia (<jats:italic>n<\/jats:italic>\u2009=\u200955), S\u00e3o Paulo (<jats:italic>n<\/jats:italic>\u2009=\u200933) and Minas Gerais (<jats:italic>n<\/jats:italic>\u2009=\u200927). More than 85% of patients\u2009&lt;\u20095 years old and approximately 75% of patients\u2009\u2265\u20095 years old had physiotherapy at the index date. In both age groups, nearly 50% of patients required hospitalization at some point and 25% required mobility support. Respiratory and feeding support were required for 3% and 12% of patients, respectively, suggesting that between 5 and 21 patients may have had severe XLMTM.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>In this real-world study, genetic testing for XLMTM appears to be underutilized in Brazil and may contribute to underdiagnosis of the disease. Access to diagnosis and care is limited outside of specific regions with specialized clinics and hospitals. Substantial use of healthcare resources included hospitalization, physiotherapy, mobility support, and, to a lesser extent, feeding support and respiratory support.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-024-03144-7","type":"journal-article","created":{"date-parts":[[2024,5,7]],"date-time":"2024-05-07T12:02:04Z","timestamp":1715083324000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A healthcare claims analysis to identify and characterize patients with suspected X-Linked Myotubular Myopathy (XLMTM) in the Brazilian Healthcare System"],"prefix":"10.1186","volume":"19","author":[{"given":"Paulo Victor Sgobbi","family":"Souza","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tmirah","family":"Haselkorn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jader","family":"Baima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renato Watanabe","family":"Oliveira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabi\u00e1n","family":"Hern\u00e1ndez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina G.","family":"Birck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr","given":"Marcondes C.","family":"Fran\u00e7a","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,5,7]]},"reference":[{"key":"3144_CR1","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1186\/1750-1172-3-26","volume":"3","author":"H Jungbluth","year":"2008","unstructured":"Jungbluth H, Wallgren-Pettersson C, Laporte J. 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No direct patient identifiers have been provided in this manuscript.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Individual patient consent was not required for this secondary study using anonymized data from a public healthcare system database.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"PVSS is a neurologist, assistant at Ambulat\u00f3rio de Doen\u00e7as Neuromusculares (UNIFESP-EPM); TH and JB are employees and shareholders of Astellas Gene Therapy. CP is a consultant to Astellas Gene Therapy. RWO, FH, and MGB are employees of IQVIA. MF is a professor at the School of Medicine at UNICAMP.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}],"article-number":"188"}}