Matthew Klein, MD, Chief Development Officer at PTC Therapeutics, explains the significance of risdiplam (evrysdi), a daily therapy for spinal muscular atrophy (SMA), being an oral treatment that can be self-administered.
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.
Risdiplam was approved for all types of SMA in patients 2 months and older. According to Dr. Klein, the significance of risdiplam being a daily oral therapy is three-fold. First, the drug is broadly distributed throughout the body. Second, as an oral treatment, it is sustainable in that patients can reasonably take it for the rest of their life. Third, the drug can be administered at home rather than at a hospital, which has been particularly important during the COVID-19 pandemic.
To learn more about SMA and other neurological disorders, visit checkrare.com/diseases/neurology