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

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 evaluate...

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Bibliographic Details
Published in:Muscle & nerve 2020-12, Vol.62 (6), p.681-687
Main Authors: Sadjadi, Reza, Sullivan, Stacey, Grant, Natalie, Thomas, Susan E., Doyle, Maya, Hammond, Colleen, Corre, Camille, Mello, Nicholas, David, William S., Eichler, Florian
Format: Article
Language:English
Subjects:
Adult
Breathing Exercises - methods
Clinical trials
Clinical Trials as Topic
Complications
Cough
Cystinosis
Cystinosis - physiopathology
Deglutition Disorders - physiopathology
Deglutition Disorders - rehabilitation
Distal Myopathies - physiopathology
Distal Myopathies - rehabilitation
distal myopathy
Dysphagia
EMST150
Female
Hand Strength
Humans
Male
Maximal Respiratory Pressures
Middle Aged
Muscle Strength
Muscular Diseases - physiopathology
Muscular Diseases - rehabilitation
Myopathy
nephropathic Cystinosis
Outcome Assessment, Health Care
Patient Reported Outcome Measures
Physical Functional Performance
Physical training
Respiratory Aspiration - prevention & control
respiratory therapy
Training
video fluoroscopy
Walk Test
Well being
Young Adult
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Summary: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
ISSN:0148-639X
1097-4598
DOI:10.1002/mus.27039