Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis
Autor: | Susan E. Thomas, William S. David, Natalie Grant, Maya Doyle, Nicholas Mello, Camille Corre, Stacey Sullivan, Florian Eichler, Reza Sadjadi, Colleen Hammond |
---|---|
Rok vydání: | 2020 |
Předmět: |
Adult
Male 0301 basic medicine Pediatrics medicine.medical_specialty Maximal Respiratory Pressures Physiology Cystinosis Walk Test Expiratory Muscle Strength Training Timed Up and Go test 030105 genetics & heredity Breathing Exercises Young Adult 03 medical and health sciences Cellular and Molecular Neuroscience 0302 clinical medicine Muscular Diseases Nephropathic Cystinosis Physiology (medical) Outcome Assessment Health Care medicine Humans Muscle Strength Patient Reported Outcome Measures Respiratory system Myopathy Clinical Trials as Topic Hand Strength business.industry Respiratory Aspiration Middle Aged Physical Functional Performance Dysphagia Distal Myopathies Clinical trial Female Neurology (clinical) medicine.symptom Deglutition Disorders business Airway 030217 neurology & neurosurgery |
Zdroj: | Muscle & Nerve. 62:681-687 |
ISSN: | 1097-4598 0148-639X |
DOI: | 10.1002/mus.27039 |
Popis: | 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 |
Databáze: | OpenAIRE |
Externí odkaz: |