Roche (SIX: RO, ROG; OTCQX: RHHBY) presented promising two-year findings from the ongoing RAINBOWFISH study at the 29th World Muscle Society (WMS) Congress, held from October 8-12, 2024. The study evaluates the efficacy and safety of Evrysdi® (risdiplam) in infants with spinal muscular atrophy (SMA) who started treatment before showing symptoms and within six weeks of birth (n=23). Results showed that most children reached key motor milestones, could swallow and feed orally, and demonstrated cognitive skills comparable to those without SMA, with none requiring permanent ventilation.
“Motor neuron degeneration in SMA begins before symptoms appear, making early intervention crucial to preserving muscle function,” said Dr. Laurent Servais, Professor of Paediatric Neuromuscular Diseases at the MDUK Oxford Neuromuscular Centre. “These results are encouraging, as children treated early with Evrysdi achieved milestones like sitting, standing, and walking, which would typically be out of reach without treatment.”
The study found that all children with three or more copies of the SMN2 gene (n=18) achieved standing and walking milestones (100%), based on assessments from the Bayley Scales of Infant and Toddler Development, third edition (BSID-III) and the Hammersmith Infant Neurological Examination, Module 2 (HINE-2). Most achieved these milestones within the World Health Organisation (WHO) standards for typical child development. Among those with two SMN2 copies (n=5), all were able to sit (100%), and most could stand and walk independently (60%) after two years of treatment. Additionally, all children could swallow and feed orally, and none needed permanent ventilation. Historically, children with Type 1 SMA, without treatment, would not reach these developmental stages or live beyond two years.
After two years on Evrysdi, children in the study showed cognitive skills on par with their peers without SMA, as measured by the BSID-III Cognitive Scale. This trial is the first in SMA research to use a standardized scale to assess cognition as an exploratory endpoint.
“These two-year results highlight the potential of early Evrysdi treatment to significantly improve the lives of children with SMA,” stated Dr. Levi Garraway, Roche’s Chief Medical Officer and Head of Global Product Development. “Together with newborn screening programs, Evrysdi is the only non-invasive SMA treatment that can be given during a child’s first hours of life.”
The RAINBOWFISH study administered Evrysdi to children before symptoms emerged, with a median first dose age of 25 days. The outcomes were evaluated based on the number of SMN2 gene copies, with fewer copies typically indicating more severe SMA.
No deaths or treatment discontinuations due to adverse events (AEs) occurred during the study. The most common AEs included teething, gastroenteritis, diarrhea, eczema, and fever, consistent with AEs seen in other Evrysdi trials and more indicative of age rather than the underlying SMA. Most AEs were not treatment-related and resolved over time.
Roche is developing Evrysdi in collaboration with the SMA Foundation and PTC Therapeutics.
