{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T04:25:49Z","timestamp":1772166349037,"version":"3.50.1"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,1,14]],"date-time":"2025-01-14T00:00:00Z","timestamp":1736812800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,1,14]],"date-time":"2025-01-14T00:00:00Z","timestamp":1736812800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100013995","name":"Sanofi Genzyme","doi-asserted-by":"publisher","award":["SGZ201812244"],"award-info":[{"award-number":["SGZ201812244"]}],"id":[{"id":"10.13039\/100013995","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. Over time, reductions in muscle strength result in respiratory failure and a loss of ambulation. Delayed diagnosis of LOPD deprives patients of treatments that can enhance quality of life and potentially slow disease progression. The objective of this study is to determine if patients with a nonspecific diagnosis, such as muscle weakness, may be at risk for LOPD using retrospective chart review of patients seen at two centers: an academic center and a community health system.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Initial data pulls identified 80,070 patients with one of the ICD-10 codes of interest. Chart review found 551 of these patients also had at least one lab value commonly abnormal in individuals with LOPD and of these 110 scored as \u201cat-risk\u201d. After removing phenocopies\/other confirmed unrelated diagnoses, 46 individuals were contacted either directly or through their healthcare provider for genetic counseling. Three patients had pretest genetic counseling and were tested for decreased levels of acid-\u03b1-glucosidase. One patient was found to have deficient acid-\u03b1-glucosidase. Additionally, a physician educated through the program ordered LOPD testing for their patient and diagnosed them with LOPD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study confirms that a symptom-based scoring tool and chart review combined with provider education can identify patients who are at increased likelihood to have a missed LOPD diagnosis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-024-03425-1","type":"journal-article","created":{"date-parts":[[2025,1,13]],"date-time":"2025-01-13T23:52:46Z","timestamp":1736812366000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE)"],"prefix":"10.1186","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8344-8078","authenticated-orcid":false,"given":"Dawn A.","family":"Laney","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kayla A.","family":"Banks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleanor G.","family":"Botha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Keever","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valynne","family":"Long","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allison L.","family":"Foley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,1,14]]},"reference":[{"issue":"5","key":"3425_CR1","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1097\/01.gim.0000218152.87434.f3","volume":"8","author":"PS Kishnani","year":"2006","unstructured":"Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. 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Muscle Nerve. 2009;40(1):149\u201360. https:\/\/doi.org\/10.1002\/mus.21393.","journal-title":"Muscle Nerve"},{"issue":"2","key":"3425_CR4","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1002\/mus.22296","volume":"45","author":"LD Hobson-Webb","year":"2012","unstructured":"Hobson-Webb LD, Kishnani PS. How common is misdiagnosis in late-onset Pompe disease? Muscle Nerve. 2012;45(2):301\u20132. https:\/\/doi.org\/10.1002\/mus.22296.","journal-title":"Muscle Nerve"},{"issue":"4","key":"3425_CR5","doi-asserted-by":"publisher","first-page":"594","DOI":"10.1002\/mus.23643","volume":"47","author":"A Dubrovsky","year":"2013","unstructured":"Dubrovsky A, Corderi J, Karasarides T, Taratuto AL. Pompe disease, the must-not-miss diagnosis: a report of 3 patients. 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The survey was conducted with the ethical principles that have their origins in the Declaration of Helsinki, in compliance with the approved protocol, Guidance on Good Clinical Practice guidelines, and applicable regulatory requirements. Approval was obtained from Emory Institutional Review Board, before conducting the study or enrolling any participants. Informed consent for genetic testing was obtained from all individuals undergoing testing. Emory Institutional Review Board waived authorization for the initial data pull and review of all electronic medical record data to identify and contact at risk individual and their providers.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"DL has disclosed that she has received honoraria and research funding as an investigator, researcher, speaker, board member registries\/coordinator for Sanofi Genzyme; has received research funding and honoraria as an investigator, speaker, coordinator for Amicus and Shire, now part of Takeda; and is a co-founder and has stock options for ThinkGenetic, Inc. AF and VL are research coordinators on studies and clinical trials from Sanofi Genzyme and Amicus Therapeutics. Authors KB, EB, and MK declare that they have no conflicts of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}],"article-number":"23"}}