Dalia Moawad, MD, Executive Director, Head of Neurological Rare Diseases, Medical Affairs at Genentech, discusses the mechanism of action of risdiplam (Evrysdi), a drug indicated for the treatment of spinal muscular atrophy (SMA) in SMA1 patients 2 months and older.

SMA is a rare inherited neuromuscular disorder caused by an inadequate level of the survivor motor neuron (SMN) protein due to mutations in the SMN1 gene. The absence of the SMN protein leads to cellular imbalances in motor neurons that in turn causes the motor neuron endplates to not properly connect to muscle and the motor neurons die.

As Dr. Moawad explains, risdiplam is a survival motor neuron 2 (SMN2) splicing modifier designed to treat SMA by increasing the production of SMN protein. 

Recently, 3-year data was announced that demonstrated the long-term safety and efficacy of risdiplam.

To learn more about SMA and other rare neurological disorders, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/