The Effect of Exercise on Muscle Dysfunction in Cystinosis

Trial ID: NCT04071548


Classification of activity tolerance is of importance in chronic progressive myopathies, not only to better understand functional implications of the disease state itself, but also for purposes of exercise prescription for health maintenance. Maximal exercise testing has been considered as the gold standard of assessing maximal aerobic capacity, however testing in individuals with neuromuscular disease is often limited due to pain, activity intolerance, musculoskeletal impairments, fatigue and other such related variables. Often, submaximal exercise testing can overcome some of these obstacles, and as such, is used frequently in the clinical environment. Non-ambulatory exercise testing utilizing an arm ergometer specifically has not been studied as heavily, especially in those with progressive myopathies. For this study, we will use maximal aerobic capacity testing for individuals with Cystinosis Myopathy utilizing a bike ergometer to allow testing of individuals regardless of their ambulatory status.

Official Title

The Effect of Exercise on Muscle Dysfunction in Cystinosis

Stanford Investigator(s)

Richard J. Reimer, MD
Richard J. Reimer, MD

Associate Professor of Neurology (Adult Neurology) and, by courtesy, of Molecular and Cellular Physiology


Inclusion Criteria:

>=18 years -<= 60 years male or female with documented diagnosis of Cystinosis

Exclusion Criteria:

All Cystinosis participants:

   - female subject who is known or suspected to be pregnant

   - excluded for other illnesses or medications that may impact growth, nutritional
   status, development, or bone health unrelated to cystinosis

Exercise intervention:

   - exercise limitation due to pre-existing heart disease

   - individuals on medications that limit heart rate (beta adrenergic blockers)

   - unable to plantar flex or dorsiflex ankle against resistance

   - unable to use pedal ergometer


other: HIIT Exercise

Contact Information

Stanford University
School of Medicine
300 Pasteur Drive
Stanford, CA 94305
Tina Duong, MPT, PHDc