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Page last checked: 21st December 2022
Last updated: 4th May 2022


The latest data from the FIREFISH study of risdiplam was presented at the 14th European Paediatric Neurology Society (EPNS) Congress.

In summary, it showed that:

  • 91% of infants treated with Evrysdi in the FIREFISH study were still alive at three years.
  • Infants treated with Evrysdi maintained or continued to improve in measures of motor function, including their ability to swallow, sit without support, stand with support and walk while holding on.
  • The study also showed overall continued reductions in serious adverse events and hospitalisations over time.

The FIREFISH study evaluated the efficacy and safety of Evrysdi in infants aged 1-7 months at the time of enrolment with Type 1 SMA. The study was in two parts:

  • Part 1: a dose-finding period
  • Part 2: evaluation of the efficacy and safety of risdiplam at the dose selected in Part 1.

The pooled population includes participants treated with Evrysdi™ at the approved dose for a minimum of three years.

Evrysdi™ is currently approved in 79 countries and the dossier is under review in a further 29 countries.

Patients enrolled via Part 1 of the trial

Patients involved in Part 1 continued to receive treatment at the dose selected from the 12-week dose-finding study.

Outcomes for infants with SMA Type 1 following 12 months of risdiplam treatment were:

  • 7 out of 17 (41%) able to sit without support for at least five seconds, compared to 0% of untreated infants (natural history data).
  • 11 (65%) able to sit (with or without support),
  • 9 (53%) achieved upright head control (assessed by HINE-2)
  • 1 (6%) achieved the milestone of standing (supporting own weight).
  • 10 out of 17 (59%) achieved a CHOP-INTEND total score of 40 points or more.
    • Median change from baseline to month 12 in CHOP-INTEND was 17.5 points.
    • The maximum CHOP-INTEND score was 57 points after 12 months treatment, increasing from a maximum of 49 points after 8 months.
    • After 16 months of treatment, 82% (14/17) of high-dose patients had a CHOP-INTEND score ≥40.
  • After 16 months of treatment, no infant required tracheostomy or reached permanent ventilation
  • 86% (18/21) of all infants were event-free after receiving risdiplam for 16 months. An event is defined as the time when ventilation support for breathing is required for at least 16 hours a day for 14 consecutive days, or sadly when a patient dies.

Patients enrolled via Part 2 of the trial

Outcomes for infants with SMA Type 1 receiving 12 months of risdiplam treatment:

  • 29% of infants (12/41; p<0.0001) able to sit without support for at least five seconds, compared to 0% of untreated infants (natural history data).
  • 18 (43.9%) able to hold their head upright.
  • 13 (31.7%) able to roll to the side.
  • 2 (4.9%) able to stand with support (measured with HINE-2).


  • 90% (37/41) had a CHOP-INTEND score increase of at least 4 points.
  • 56% (23/41) achieved a score above 40; the median increase was 20 points.


  • 85% (35/41) were event-free


February: Data from part 1 of FIREFISH, were published in the New England Journal of Medicine. The study met its primary endpoint with 29% of infants sitting without support for at least five seconds by month 12, a milestone not seen in the natural course of the condition. Safety for Evrysdi™ in the FIREFISH Part 2 study was consistent with its known safety profile.

April: At the 73rd American Academy of Neurology Annual Meeting, Roche presented results demonstrating that risdiplam continued to improve motor function and survival in babies who have SMA Type 1.


October: Data on Part 1 of the Firefish trial presented at the virtual 25th Annual Congress of the World Muscle Society showed that infants treated with the therapeutic dose of risdiplam continued to improve and achieve motor milestones.


May: Roche reported at the 2019 American Academy of Neurology Conference that enrollment for this study was now complete and preliminary results were expected in early 2020.


June: PTC Therapeutics presented preliminary data at the 2018 Cure SMA conference in Dallas indicating that risdiplam appeared to be well tolerated at all doses tested and to date had not caused any drug-related adverse events causing patient withdrawal from the trial.


August: Roche had begun to enrol SMA patients in the FIREFISH Phase II trials of their splice-modifying drug, RG7916 (also known as RO7034067) in the US, Belgium, Italy, Switzerland, and Turkey.


September: Roche announced that they were to begin recruiting SMA patients into this trial.