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Δευτέρα 25 Ιανουαρίου 2021

Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis.

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Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis.

Muscle Nerve. 2020 12;62(6):681-687

Authors: Sadjadi R, Sullivan S, Grant N, Thomas SE, Doyle M, Hammond C, Corre C, Mello N, David WS, Eichler F

Abstract
BACKGROUND: Nephropathic 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.
METHODS: 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.
RESULTS: There 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).
CONCLUSIONS: 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-being.

PMID: 32737993 [PubMed - indexed for MEDLINE]

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