Dr. Jacqueline Montes speaks about her recent Grant

Dr. Jacqueline Montes was awarded a $1,238,959 grant from Genentech to study exercise intolerance and fatigue in individuals with spinal muscular atrophy (SMA).

The impact of SMN insufficiency on muscle mitochondrial function and the relationship to exercise intolerance and fatigue, and their responsiveness to treatment in spinal muscular atrophy (SMA) is not known. If muscle function is compromised by SMN insufficiency, treatment strategies targeting muscle in addition to spinal cord motor neurons may ameliorate fatigue and improve exercise capacity. The purpose of this study is to determine the relative impact of systemic (Risdiplam) versus CNS-administered (Nusinersen) SMN repletion therapy on exercise capacity as well as muscle structure and function in individuals with SMA.

This 3-year investigator-initiated observational study, sponsored by Genentech, will enroll 34 ambulatory children and adults with SMA and include assessments of aerobic capacity (cardiopulmonary exercise testing) and other functional assessments as well as MRI, muscle ultrasound and near infrared spectroscopy to evaluate muscle structure and function.

Congratulations Dr. Montes!