SOUTH SAN FRANCISCO, Calif. — Genentech, part of the Roche Group, shared positive two-year results from the RAINBOWFISH study at the 29th World Muscle Society Congress, held from October 8-12, 2024. The study evaluated the efficacy and safety of Evrysdi® (risdiplam) in children with spinal muscular atrophy (SMA) who received treatment before the onset of symptoms, specifically those treated as infants under six weeks old (n=23).
The findings indicate that most participants achieved significant motor milestones, including the ability to swallow and feed orally, with no cases requiring permanent ventilation. Dr. Laurent Servais, a professor of Pediatric Neuromuscular Diseases, emphasized the importance of early intervention, noting that these children reached developmental milestones typically unattainable without treatment.
Among children with three or more copies of the SMN2 gene (n=18), all achieved standing and walking milestones, while children with two copies (n=5) demonstrated similar success in sitting and some in standing and walking independently after two years. Notably, all participants displayed cognitive skills comparable to those of children without SMA.
Dr. Levi Garraway, Genentech's Chief Medical Officer, stated that these results confirm Evrysdi's potential to enhance the lives of children with SMA, especially when combined with newborn screening programs. The treatment was initiated before six weeks of age, with a median first dose at 25 days.
No deaths or serious adverse events were reported during the study. Common side effects included teething, gastroenteritis, diarrhea, eczema, and fever, which were consistent with those observed in other trials involving Evrysdi.
Evrysdi is a splicing modifier designed to treat SMA caused by mutations leading to SMN protein deficiency. It is administered daily at home and is currently approved in over 100 countries, with more than 16,000 individuals treated globally.
SMA is a severe neuromuscular disorder affecting approximately one in 10,000 births, making it the leading genetic cause of infant mortality. The disease is characterized by the degeneration of motor neurons due to a deficiency of SMN protein, essential for muscle function.