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Abstract Details

Clinical Trial Readiness Study of Distal Myopathy and Dysphagia in Nephropathic Cystinosis
Neuromuscular and Clinical Neurophysiology (EMG)
S56 - Neuromuscular Therapeutics (4:30 PM-4:42 PM)
006

Nephropathic cystinosis is a lysosomal storage disorder manifesting in early renal failure and anemia often requiring hemodialysis and kidney transplant. Prolonged patient survival following renal transplantation has revealed late-onset systemic complications, including the development of myopathy and dysphagia. Currently employed outcome measures lack sensitivity and responsiveness for evaluation of dysphagia in patients with nephropathic cystinosis. 

Clinical trial readiness study of myopathy, dyspnea and dysphagia in patients with nephropathic cystinosis

We evaluated 20 patients with nephropathic cystinosis (median age 28.5) in two visits (visit1, visit2) over the course of one year to identify outcomes sensitive to detect changes over time. Following the observational phase of the study, patients underwent a 5-week exercise regimen using an EMST-150 respiratory trainer to identify any effect on aspiration and dysphagia (visit3).

There were no significant changes in M.D.Anderson Dysphagia Inventory and Eating-Assessment-Tool, grip dynamomyometry over the course of the observational phase of the study or following exercise regimen. There were significant differences between Timed-Up&Go (visit1, mean 7.0, 95%CI [6.3;7.8]; visit2, mean 7.9, 95%CI [7.0;8.8]) and 25-Foot-Walk (visit1, mean 4.9, 95%CI [4.5;5.4]; visit2, mean 5.7, 95%CI [5.2;6.3]). Maximum Expiratory Pressure (visit2, mean 63.4, 95%CI [45.4;81.4]; visit3, mean 80.9, 95%CI [60.4; 101.5]) and Peak Cough Flow (visit2, mean 233.2, 95%CI [184.9;281.5]; visit3, mean 258.0, 95%CI [207.5;310.5]) significantly improved following respiratory training. Videofluoroscopic evaluation at visit 3 was notable for improvement in three patients with baseline high Penetration-Aspiration-Scale scores.

Patients with more severe dysphagia showed modest improvements in the dysphagia score following the exercise regimen, suggesting possible benefit in more severely affected patients and pointing to the value of stratification in future trials. Improved respiratory measures may enhance the ability to expel aspirated material from the airway, prevent pulmonary sequelae associated with chronic aspiration, and yield an overall improvement in physical health and well being.

Authors/Disclosures
Reza Seyedsadjadi, MD
PRESENTER
Dr. Seyedsadjadi has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alnylam. Dr. Seyedsadjadi has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for DYSIMMUNE DISEASES FOUNDATION. The institution of Dr. Seyedsadjadi has received research support from AAN.
No disclosure on file
Natalie Grant Natalie Grant has nothing to disclose.
No disclosure on file
No disclosure on file
William S. David, MD, PhD, FAAN (EMG /Neuromuscular Unit) Dr. David has received personal compensation in the range of $500-$4,999 for serving as an officer or member of the Board of Directors for Dysimmune Disorders foundation. Dr. David has received publishing royalties from a publication relating to health care.
Florian Eichler, MD (Massachusetts General Hospital) An immediate family member of Dr. Eichler has received personal compensation for serving as an employee of UpToDate. Dr. Eichler has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for SwanBio Therapeutics. Dr. Eichler has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Alnylam. Dr. Eichler has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Leal Therapeutics. Dr. Eichler has received personal compensation in the range of $100,000-$499,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Swan Bio. Dr. Eichler has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Sanofi. Dr. Eichler has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for UpToDate. Dr. Eichler has stock in SwanBio Therapeutics. The institution of Dr. Eichler has received research support from Minoryx Therpeutics. The institution of Dr. Eichler has received research support from ASPA Therapeutics. The institution of Dr. Eichler has received research support from bluebird bio. The institution of Dr. Eichler has received research support from Ionis Pharmaceuticals. Dr. Eichler has received intellectual property interests from a discovery or technology relating to health care.