Claudio Santos, MD, MBA of PTC Therapeutics provides an update on the orphan drug being developed by the company, in partnership with Roche, to treat spinal muscular atrophy (SMA). The drug, risdiplam, is a  survival motor neuron-2 (SMN2) splicing modifier currently under review by the U.S. Food and Drug Administration (FDA) as a treatment option for all types of SMA.

SMA is a rare neuromuscular disorder that results in progressive muscle atrophy. It is a genetic disorder caused but a mutation in the survival motor neuron-1 (SMN1) gene that results in a deficiency of SMN protein. A second gene, SMN2, can also produce SMN protein but in relatively small amounts under normal circumstances.  

Risdiplam helps to increase and sustain SMN protein in the body to attenuate the normal neuromuscular degradation observed in SMA. 

To learn more about this and other rare neuromuscular disorders, visit


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