COLUMBIA SMA PROJECT: A RANDOMIZED, CONTROL TRIAL OF THE EFFECTS OF EXERCISE ON MOTOR FUNCTION AND STRENGTH IN PATIENTS WITH SPINAL MUSCULAR ATROPHY (SMA)

Background: Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disease characterized by weakness and muscle atrophy due to loss of spinal cord motor neurons. While exercise is utilized to improve strength and function in SMA, its effectiveness on modulating function in this disease has not been explored. Objective/Hypothesis: We hypothesize that exercise will improve performance on clinical measures of strength and function and increase exercise capacity among ambulatory subjects with SMA. Specific Aims: The study will examine the effect of endurance and strengthening exercise on clinical measures and exercise capacity in ambulatory patients with SMA.Study Design: Fourteen ambulatory participants with genetically confirmed SMA will be enrolled. The examining therapist will be blinded to intervention status as well as study design. Subjects will be randomly assigned to two cohorts. The experimental group will receive 6 months of intervention, followed by 6 months of closely monitored ongoing treatment that will maintain evaluator blinding, and 6 months of subject-directed exercise. Group 2 will serve as the subject control group. This cohort will receive 6 months of exercise intervention starting in the seventh month. The exercise protocol will include home-based cycle ergometry performed five times weekly for 30 minutes, plus a strengthening program performed three times weekly. The primary outcome will be distance walked in the 6-minute walk test. Additional clinical and functional measures and exercise capacity will be measured. Relevance: Lack of clinical evidence supporting its use has slowed the incorporation of exercise into the clinical care of patients with neuromuscular disease. Demonstration of clinical benefit from intensive exercise would impact clinical management in SMA.