Jim Willison, a patient with spinal muscular atrophy (SMA), discusses his experience being part of a clinical trial for risdiplam (Evrysdi).
SMA is a genetic disease that affects motor neurons in the spinal cord and control of muscle movement. It is caused by a mutation in the survival motor neuron gene 1 (SMN1) which affects nerve cells and leads to loss of muscle function. Risdiplam helps to increase and sustain SMN protein in the body to prevent the neuromuscular degradation observed in SMA.
As Mr. Willison asserts, “clinical trials are not for the faint of heart.” For him, it was a year before he got his first dose of risdiplam. Nevertheless, once he started receiving treatment, he noticed greater overall well-being, an increase in energy, greater endurance, and a quicker recovery after visiting the gym. For him, this demonstrates risdiplam to be an effective treatment for his SMA.
For more information about SMA and other rare neuromuscular disorders, visit checkrare.com/diseases/musculoskeletal-diseases.