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