{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T03:59:13Z","timestamp":1781582353828,"version":"3.54.5"},"reference-count":49,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,8,20]],"date-time":"2020-08-20T00:00:00Z","timestamp":1597881600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100005674","name":"Cystinosis Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005674","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Nephropathic cystinosis is a lysosomal storage disorder with late\u2010onset systemic complications, such as myopathy and dysphagia. Currently employed outcome measures lack sensitivity and responsiveness for dysphagia and myopathy, a limitation to clinical trial readiness.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We evaluated 20 patients with nephropathic cystinosis in two visits over the course of a year to identify outcomes sensitive to detect changes over time. Patients also underwent an expiratory muscle strength training program to assess any effects on aspiration and dysphagia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>There were significant differences in the Timed Up and Go Test (TUG) and Timed 25\u2010Foot Walk (25\u2010FW) between baseline and 1\u2010y follow\u2010up (<jats:italic>P<\/jats:italic>&lt;\u2009.05). Maximum expiratory pressure (MEP) and peak cough flow (PCF) significantly improved following respiratory training (<jats:italic>P<\/jats:italic>&lt;\u2009.05).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Improved respiratory outcomes may enhance patients ability to expel aspirated material from the airway, stave off pulmonary sequelae associated with chronic aspiration, and yield an overall improvement in physical health and well\u2010being.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.27039","type":"journal-article","created":{"date-parts":[[2020,8,1]],"date-time":"2020-08-01T09:03:17Z","timestamp":1596272597000},"page":"681-687","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis"],"prefix":"10.1002","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3829-6030","authenticated-orcid":false,"given":"Reza","family":"Sadjadi","sequence":"first","affiliation":[{"name":"Department of Neurology Massachusetts General Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stacey","family":"Sullivan","sequence":"additional","affiliation":[{"name":"Department of Speech, Language and Swallowing Disorders Massachusetts General Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Grant","sequence":"additional","affiliation":[{"name":"Center for Rare Neurological Diseases Massachusetts General Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan E.","family":"Thomas","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology, Department of Pediatrics and Communicable Diseases University of Michigan School of Medicine Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Doyle","sequence":"additional","affiliation":[{"name":"Department of Social Work, School of Health Sciences Quinnipiac University Hamden Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colleen","family":"Hammond","sequence":"additional","affiliation":[{"name":"Cystinosis Adult Care Excellence Initiative Reading Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Corre","sequence":"additional","affiliation":[{"name":"Center for Rare Neurological Diseases, Department of Neurology Massachusetts General Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Mello","sequence":"additional","affiliation":[{"name":"Center for Rare Neurological Diseases, Department of Neurology Massachusetts General Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William S.","family":"David","sequence":"additional","affiliation":[{"name":"Department of Neurology Massachusetts General Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"Eichler","sequence":"additional","affiliation":[{"name":"Center for Rare Neurological Diseases, Department of Neurology Massachusetts General Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,8,20]]},"reference":[{"key":"e_1_2_9_2_1","first-page":"254","article-title":"Neurobehavioral consequences of a genetic metabolic disorder: visual processing deficits in infantile nephropathic cystinosis","volume":"13","author":"Ballantyne AO","year":"2000","journal-title":"Neuropsychiatry Neuropsychol Behav Neurol"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10141"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.10.2.165"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7112129"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)33425-2"},{"key":"e_1_2_9_7_1","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/S0065-3101(24)00302-5","article-title":"Cystinosis coming of age","volume":"33","author":"Gahl WA","year":"1986","journal-title":"Adv Pediatr"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra020552"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj0410240"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(77)90197-8"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI108448"},{"key":"e_1_2_9_12_1","first-page":"582","article-title":"Survival time in cystinosis. 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