Key Takeaways

Infants with presymptomatic spinal muscular atrophy who were treated with risdiplam had improved functional and survival outcomes.

At 12 months, most treated infants were able to sit and stand unsupported.

With an incidence of approximately one in 10,000 births, spinal muscular atrophy is a leading genetic cause of infant death.

Infants up to 6 weeks old with genetically diagnosed presymptomatic spinal muscular atrophy (SMA) treated with oral risdiplam (Evrysdi) appeared to have better functional and survival outcomes compared with a natural history cohort, the RAINBOWFISH trial found.

After 12 months of treatment, four of five infants with two SMN2 copies and a baseline ulnar compound muscle action potential (CMAP) amplitude of at least 1.5 mV met the primary outcome

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