Genentech Presents New 2-Year Data for Evrysdi (risdiplam) in Infants with Type 1 SMA

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Genentech, a member of the Roche Group, today announced new 2-year data from Part 1 of the pivotal FIREFISH study of Evrysdi™ (risdiplam) in infants aged 2-7 months with symptomatic Type 1 spinal muscular atrophy (SMA). The 2-year results in infants treated with the therapeutic dose of Evrysdi (17/21) showed that they continued to improve and achieve motor milestones. The data were presented at the virtual 25th International Annual Congress of the World Muscle Society.

This exploratory analysis showed the follow results at 2 years of treatment:

  • 88% of infants were alive and required no permanent ventilation at 2 years.
  • 59% (10/17 vs. 7/17 at 1-year) of infants at 2 years were able to sit without support for at least 5 seconds, assessed by the Gross Motor Scale of the Bayley Scales of Infant and Toddler Development – Third Edition (BSID-III).
  • 65% (11/17 vs. 9/17 at 1-year) had maintained upright head control.
  • 29% (5/17 vs. 2/17 at 1-year) could turn themselves over.
  • 30% (5/17 vs. 1/17 at 1-year) were able to stand either supporting weight or with support.
  • 71% (12/17 vs. 10/17 at 1-year) of infants achieved a CHOP-INTEND* score of 40 points or more and all infants increased their score from month 12 to month 24.
  • Of the infants alive at 2 years (n=14), 100% maintained the ability to swallow and 93% (13/14) were able to feed orally.

Safety for Evrysdi in the FIREFISH study was consistent with its previously reported safety profile and no new safety signals were identified. The most common adverse events (n=21) included fever (pyrexia; 71%), upper respiratory tract infection (52%), cough (33%), vomiting (33%), diarrhea (29%) and respiratory tract infection (29%). The most serious adverse event that occurred in 24% of infants was pneumonia.

Evrysdi is being studied in more than 450 people as part of a broad and robust clinical trial program in SMA, with people ranging from birth to 60 years old, and includes pre-symptomatic people and those previously treated with other SMA-targeting therapies. Genentech leads the clinical development of Evrysdi as part of a collaboration with the SMA Foundation and PTC Therapeutics.

*Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders

About Evrysdi™ (risdiplam)
Evrysdi is a survival of motor neuron 2 (SMN2) splicing modifier designed to treat SMA caused by mutations in chromosome 5q that lead to SMN protein deficiency. Evrysdi is administered daily at home in liquid form by mouth or by feeding tube. The U.S. Food and Drug Administration (FDA) approved Evrysdi for the treatment of SMA in adults and children 2 months of age and older. It is currently being evaluated in four multicenter trials in people with SMA:

  • FIREFISH (NCT02913482) – an open-label, two-part pivotal clinical trial in infants with Type 1 SMA. Part 1 was a dose-escalation study in 21 infants with the primary objective of assessing the safety profile of risdiplam in infants and determining the dose for Part 2. Part 2 is a pivotal, single-arm study of risdiplam in 41 infants with Type 1 SMA treated for 2 years, followed by an open-label extension. Enrollment for Part 2 was completed in November 2018. The primary objective of Part 2 was to assess efficacy as measured by the proportion of infants sitting without support after 12 months of treatment, as assessed in the Gross Motor Scale of the Bayley Scales of Infant and Toddler Development – Third Edition (BSID-III) (defined as sitting without support for 5 seconds). The study met its primary endpoint.
  • SUNFISH (NCT02908685) – SUNFISH is a two-part, double-blind, placebo controlled pivotal study in people aged 2-25 years with Types 2 or 3 SMA. Part 1 (n=51) determined the dose for the confirmatory Part 2. Part 2 (n=180) evaluated motor function using total score of Motor Function Measure 32 (MFM-32) at 12 months. MFM-32 is a validated scale used to evaluate fine and gross motor function in people with neurological disorders, including SMA. The study met its primary endpoint.
  • JEWELFISH (NCT03032172) – an open-label exploratory trial designed to assess the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics (PD) in people with SMA aged 6 months to 60 years who received other investigational or approved SMA therapies for at least 90 days prior to receiving risdiplam. The study has completed recruitment (n=174).
  • RAINBOWFISH (NCT03779334) – an open-label, single-arm, multicenter study, investigating the efficacy, safety, pharmacokinetics and pharmacodynamics of risdiplam in babies (~n=25), from birth to six weeks of age (at first dose) with genetically diagnosed SMA who are not yet presenting with symptoms. The study is currently recruiting.

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