Grants at a glance - Summer 2018

Jacqueline Montes, assistant professor of Rehabilitation and Regenerative Medicine in the Program for Physical Therapy at Columbia University Medical Center in New York, New York, was awarded an MDA clinical trial travel grant totaling $60,000 to help support the costs of patients traveling to participate in a trial to study oxidative capacity and exercise tolerance in ambulatory SMA. In a previous study, Dr. Montes’ team found that exercise does not improve function or fitness in ambulatory SMA children and adults despite increases in exercise ability. Understanding the underlying mechanisms preventing the expected improvements is necessary to design appropriate treatment strategies for SMA patients to benefit from exercise. There has been laboratory evidence to suggest that mitochondria are affected by lack of SMN. A reduction in oxidative capacity disproportionate to lean mass and disease severity would further support evidence of mitochondrial depletion in SMA. Alternative exercise training strategies and/or concomitant targeted therapeutic intervention may be necessary to achieve an aerobic conditioning effect. The results from this 6-month observational study of 42 patients (14 ambulatory SMA, 14 ambulatory mitochondrial myopathy, and 14 healthy controls) would provide preliminary data, using non-invasive methods, on oxidative capacity in ambulatory SMA patients and disease controls to aid in the design of exercise intervention studies. Furthermore, this information would link previous laboratory and preclinical findings of mitochondrial depletion in SMA to the clinical condition and provide important information for future studies designed to improve oxidative capacity and fitness in SMA patients.