Evrysdi enables majority of SMA children to sit, stand, and walk independently, two-year data shows

Positive data from the ongoing RAINBOWFISH study have confirmed the efficacy and safety of Evrysdi® (risdiplam) in treating children with spinal muscular atrophy (SMA) who began treatment before showing symptoms. These findings, presented by Roche at the 29th World Muscle Society Congress, showed that children treated with Evrysdi before six weeks of age achieved significant motor milestones similar to those of children without SMA. The study included 23 infants treated pre-symptomatically, with the median age of the first dose being 25 days.

Evrysdi, the only non-invasive therapy for SMA, has been approved in over 100 countries and has treated more than 16,000 people globally. The study revealed all participating children were able to swallow, feed orally, and none required permanent ventilation. The majority of the children achieved key motor milestones such as standing and walking, particularly those with three or more copies of the SMN2 gene. Children with two SMN2 copies also demonstrated significant progress, with all able to sit and most able to stand and walk independently after two years of treatment.

The study also assessed cognitive development using the Bayley Scales of Infant and Toddler Development, third edition (BSID-III), and found that the children’s cognitive skills were typical for their age. This marked the first time a clinical trial for SMA included cognition as an exploratory endpoint using a standardized scale. Natural history studies indicate that without treatment, children with Type 1 SMA would not typically reach such milestones or survive beyond the age of two.

Expert commentary from Laurent Servais, M.D., Ph.D., highlighted the importance of early intervention. He noted that motor neuron degeneration in SMA begins before symptoms appear, making timely treatment crucial for preserving muscle function. Levi Garraway, M.D., Ph.D., Roche’s Chief Medical Officer, emphasized the significance of these findings for improving the lives of children with SMA, particularly when used in conjunction with newborn screening programs.

Throughout the study, treatment with Evrysdi before six weeks of age showed promising results, with no deaths or adverse events leading to treatment discontinuation. Common adverse events included teething, gastroenteritis, diarrhea, eczema, and fever, which were consistent with those observed in other Evrysdi trials and generally resolved over time.

Roche leads the clinical development of Evrysdi in collaboration with the SMA Foundation and PTC Therapeutics. The medication modifies the splicing of the SMN2 gene to increase the production of the survival motor neuron (SMN) protein, crucial for maintaining motor neuron health and core functions such as swallowing, speaking, and breathing. Administered daily in liquid form, Evrysdi can be taken at home either by mouth or through a feeding tube.

Evrysdi has received several recognitions, including PRIME designation by the European Medicines Agency in 2018 and Orphan Drug Designation by the U.S. Food and Drug Administration in 2017. It was also awarded Drug Discovery of the Year by the British Pharmacological Society in 2021. The medication is currently under review in twelve additional countries, and Roche is developing a room-temperature stable tablet form of risdiplam.

The continued exploration of Evrysdi’s potential through various clinical trials underscores its promise in treating SMA. These trials include FIREFISH, SUNFISH, JEWELFISH, RAINBOWFISH, MANATEE, HINALEA 1, and HINALEA 2, each focusing on different aspects and patient groups affected by SMA. The results from these studies continue to support the effectiveness and safety of Evrysdi, offering hope to those impacted by this challenging condition.

SMA is a severe neuromuscular disease that affects approximately one in 10,000 babies and is a leading genetic cause of infant mortality. The disease is caused by mutations in the SMN1 gene, resulting in a deficiency of SMN protein essential for nerve and muscle function. Without adequate levels of this protein, muscle weakness and loss of motor functions occur over time.

Roche, a global leader in biotechnology and in-vitro diagnostics, has a long history of scientific excellence and innovation. The company’s focus on neuroscience aims to develop treatments for chronic and devastating diseases, including SMA. Founded in 1896, Roche remains committed to improving lives through its pioneering work in personalized healthcare and sustainability initiatives.