First Oral SMA Drug by Roche Now Available to Newborns

The US FDA has approved a label extension for Roche’s Evrysdi (risdiplam) to include infants under two months old with spinal muscular atrophy (SMA). Evrysdi, co-developed by Roche and Genentech with PTC Therapeutics and the SMA Foundation is one of three drugs currently available for treating the genetic condition that weakens muscles and causes movement impairments.

Evrysdi was first approved for patients older than two months in August 2020, the May 31st expanded use announcement added Roche as the third therapeutic option for newborns following Biogen’s Spinraza and Novartis’ Zolgensma. Evrysdi remains attractive thanks to its convenient oral administration and option to be taken at home. 

Mutation of SMN1 Gene 

SMA is caused by mutations in the survival motor neuron 1 (SMN1) gene, which then leads to a deficiency of survival motor neuron (SMN) protein. This protein is found throughout the body and is vital to nervous functions that control movements and breathing. Without it, nerve cells cannot function correctly, leading to muscle weakness over time. Most newborns affected by severe disease fail to survive beyond the first two years.

Evrysdi treats the condition by increasing and maintaining SMN protein production in the central nervous system (CNS) and peripheral tissues, the medicine encourages protein production from a similar SMN2 gene. 

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Treating SMA Early Ensures Motor Skills’ Development

FDA’s decision followed interim data from the global RAINBOWFISH study in newborns, which demonstrated 67% and 50% of the pre-symptomatic babies could stand and walk, respectively, after a year of Evrysdi treatment.

Director of the Experimental Neuroscience Program at St. Jude Children’s Research Hospital, Richard Finkel said the approval of Evrysdi as early treatment for pre-symptomatic SMA babies can help babies develop important motor skills. “With the inclusion of SMA in newborn screening programs, this approval provides the opportunity to start treating at home with Evrysdi soon after the diagnosis is confirmed.”

Without medical interventions, infants cannot achieve these motor milestones in the natural course of the disease, impacting patients’ ability to independently participate in aspects of daily life such as breathing, eating, walking, and even be life-altering.

Since 2020, Evrysdi’s market has been gradually expanding. Earlier this year, Evrysdi sales reached $230 million and is expected to grow due to this approval and its better price compared to Biogen’s Spinraza.

Author

Fujie Tham