Roche reveals two-year data for Evrysdi in children with spinal muscular atrophy

Roche has shared promising two-year results from an ongoing study of their spinal muscular atrophy (SMA) treatment, Evrysdi (risdiplam), in children who received the treatment pre-symptomatically as infants, before reaching six weeks of age. SMA is a severe and progressive neuromuscular disorder, affecting approximately one in every 10,000 newborns. This condition is marked by a deficiency of the SMN protein, which is crucial for motor neuron function.

The severity of SMA can vary, but it generally leads to significant impairment or loss of physical abilities such as walking, eating, and breathing. Roche’s Evrysdi, which is administered orally or via a feeding tube, aims to increase and maintain the levels of the SMN protein in the central nervous system and peripheral tissues, thus addressing the core issue of the disease.

The recent findings were part of the RAINBOWFISH study, results of which were presented at the World Muscle Society Congress. These results demonstrated that all participating children with three or more copies of the SMN2 gene achieved key developmental milestones such as standing and walking, in alignment with typical developmental windows set by the World Health Organization. Among children with two copies of the SMN2 gene, 100% were able to sit, and 60% could stand and walk independently after two years of treatment.

Moreover, the study highlighted that all children could swallow and feed orally after two years of treatment, with none requiring permanent ventilation. Cognitive development in these children was also reported to be on par with peers who do not have SMA.

Levi Garraway, Roche’s chief medical officer and head of global product development, remarked that the two-year results affirm the potential of early Evrysdi intervention to significantly enhance the lives of children with SMA. He emphasized the value of integrating Evrysdi with newborn screening programs, noting that it is the only non-invasive SMA treatment that can be given within the first hours of a child's life.

Roche is leading the clinical development of Evrysdi in collaboration with the SMA Foundation and PTC Therapeutics. The treatment has already received approval in over 100 countries. The latest two-year data follows the presentation of five-year data at the Cure SMA Research and Clinical Care Meeting, held four months earlier.

In the five-year open-label extension of the FIREFISH study, 91% of children treated with Evrysdi were alive, 81% were alive without the need for permanent ventilation, and 59% could sit without support for at least 30 seconds. These long-term results further underscore the efficacy and potential benefits of Evrysdi as a treatment for SMA, offering hope for improved quality of life for affected children and their families.