How an RNA targeting approach helped patients living with spinal muscular atrophy

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Muscle weakness. Joint pain. Breathing difficulties. Spinal muscular atrophy (SMA) is a rare disease that presents patients with myriad physical challenges. But patients and their carers must also deal with the emotional and psychological burden of the condition.

Though a cure does not currently exist, pharma companies are in pursuit of treatments to simplify disease management. Roche’s recently approved RNA-targeting small molecule Evrysdi (risdiplam) was designed to manipulate the genetic machinery of cells to restore lost function. Paulo Fontoura, Global Head and SVP of Neuroscience and Rare Diseases Clinical Development at Roche, acknowledges that the approach sounds like science fiction – but it’s very real. SMA is caused by a deficiency in survival motor neuron (SMN) protein – the result of a mutation in the SMN1 gene. Evrysdi acts as a splicing modifier of a second gene, called SMN2, whichboosts the levels of functional SMN protein (SMN2) in the central nervous system and peripheral tissues. 

Bringing this approach to reality alongside partners at PTC Therapeutics has meant that patients worldwide have been able to access treatment. And for its considerable impact on the SMA community, the drug received the British Pharmacological Society’s Drug Discovery of the Year Award. Small molecule drugs are, after all, easier to manufacture than their bio counterparts, potentially increasing accessibility.

In this video, Fontoura shares his views about the company’s approach to the production of Evrsydi, as well as his thoughts on the future of small molecule development.