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Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis
dc.contributor.authorSadjadi, Reza
dc.contributor.authorSullivan, Stacey
dc.contributor.authorGrant, Natalie
dc.contributor.authorThomas, Susan E.
dc.contributor.authorDoyle, Maya
dc.contributor.authorHammond, Colleen
dc.contributor.authorCorre, Camille
dc.contributor.authorMello, Nicholas
dc.contributor.authorDavid, William S.
dc.contributor.authorEichler, Florian
dc.date.accessioned2020-12-02T14:41:55Z
dc.date.availableWITHHELD_13_MONTHS
dc.date.available2020-12-02T14:41:55Z
dc.date.issued2020-12
dc.identifier.citationSadjadi, Reza; Sullivan, Stacey; Grant, Natalie; Thomas, Susan E.; Doyle, Maya; Hammond, Colleen; Corre, Camille; Mello, Nicholas; David, William S.; Eichler, Florian (2020). "Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis." Muscle & Nerve 62(6): 681-687.
dc.identifier.issn0148-639X
dc.identifier.issn1097-4598
dc.identifier.urihttps://hdl.handle.net/2027.42/163642
dc.description.abstractBackgroundNephropathic cystinosis is a lysosomal storage disorder with late‐onset 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.MethodsWe 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.ResultsThere were significant differences in the Timed Up and Go Test (TUG) and Timed 25‐Foot Walk (25‐FW) between baseline and 1‐y follow‐up (P < .05). Maximum expiratory pressure (MEP) and peak cough flow (PCF) significantly improved following respiratory training (P < .05).ConclusionsImproved 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‐being.See Editorial on pages 652–652 in this issue.
dc.publisherJohn Wiley & Sons, Inc.
dc.subject.othernephropathic Cystinosis
dc.subject.otherrespiratory therapy
dc.subject.othervideo fluoroscopy
dc.subject.otherdysphagia
dc.subject.otherEMST150
dc.subject.otherdistal myopathy
dc.titleClinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelNeurosciences
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/163642/2/mus27039.pdfen_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/163642/1/mus27039_am.pdfen_US
dc.identifier.doi10.1002/mus.27039
dc.identifier.sourceMuscle & Nerve
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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