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Spinal Muscular Atrophy News

October 11, 2022

Genentech presented Evrysdi's data in previously-treated children with spinal muscular atrophy.

Genentech announced new two-year data of the JEWELFISH study, evaluating Evrysdi (risdiplam) in children pre-treated with other approved SMA treatments, including Spinraza (nusinersen) and Zolgensma (onasemnogene abeparvovec). The study was conducted in individuals with Type 1, 2, or 3 SMA.

Treatment with Evrysdi improved motor function and increased SMN protein levels, and the efficacy was sustained after two years of treatment.

Genentech announced that it enrolled the widest patient pool range in the JEWELFISH trial. The safety was consistent with the previously reported profile.

More than 7,000 infants, children, and adults have been treated with Evrysdi.


April 29, 2022

Evrysdi improved survival and motor milestones in infants with type 1 SMA

Roche announced that Evrysdi (risdiplam) improved survival and motor milestones in infants with type 1 spinal muscular atrophy (SMA).

In the FIREFISH study, 91% of infants who were treated with Evrysdi were alive after three years. The infants showed improvement in motor functions, ability to swallow, sit without support, and stand with support between two to three years.

In the FIREFISH, there are two parts, Part-1 includes identifying the dose, and Part-2 evaluates the safety and efficacy of the dose determined in Part-1.

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Novartis presented new data of Zolgensma; demonstrating efficacy in presymptomatic and symptomatic infants with SMA

Novartis presented the data of Zolgensma (onasemnogene abeparvovec) in presymptomatic and symptomatic infants with spinal muscular atrophy (SMA). SPR1NT is Phase 3, an open-label, single-arm study.

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All children who are presymptomatic in SPR1NT two-copy cohort survived with respiratory or nutritional support. Eleven out of fourteen infants with SMA could sit independently for ≥30 seconds, which falls within the WHO window of normal development.

Also read: NICE assessment outcomes

Among the symptomatic children, 82% of children developed a motor function that was not observed in the natural history of SMA Type 1. 49% of children (16 children) could sit for ≥30 seconds.

The safety profile was similar to the previously reported profile.