Matthew Klein, MD, Chief Development Officer at PTC Therapeutics, explains the mechanism of action of risdiplam (Evrysdi), an approved daily therapy for spinal muscular atrophy (SMA) in 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.
As Dr. Klein explains, risdiplam, modifies the splicing of SMN2 messenger RNA to include exon 7 which results in an increase in the concentration of the functional SMN protein.
Dr. Klein notes that a slicing compound is in development for Huntington disease as well.
To learn more about SMA and other neurological disorders, visit checkrare.com/diseases/neurology
