Roche’s Drug Improves Infants with Type 1 Spinal Muscular Atrophy

Roche recently announced new three-year data of its study evaluating Evrysdi (risdiplam) in infants with symptomatic Type 1 spinal muscular atrophy (SMA).  

The FIREFISH study evaluated the safety and efficacy of Evrysdi in infants aged 1–7 months with Type 1 SMA. Researchers split the study into two parts. Part 1 was the dose-finding period, and Part 2 evaluated the efficacy and safety of the dose selected in Part 1.  

The study found that 91% of infants treated with Evrysdi were alive after three years of treatment and continued to improve or maintain motor functions, including swallowing, sitting without support, standing with support, and walking while holding on between two and three years of treatment. 

Specifically, 20 infants maintained and 15 gained the ability to sit without support for at least 30 seconds. No infant who gained the ability to sit without support lost this ability after three years of treatment.  

Additionally, most infants treated with Evrysdi maintained the ability to feed orally and swallow up to month 36. Notably, Type 1 SMA children who did not receive treatment are never able to sit without support.  

The most common adverse events in the trial were pyrexia (60%), upper respiratory tract infection (57%), and pneumonia (43%). In comparison, the most common serious adverse events were pneumonia (36%), respiratory distress (10%), viral pneumonia (9%), acute respiratory failure (5%), and respiratory failure (5%).  

“These long-term results in babies treated with Evrysdi are very encouraging, with the vast majority improving or maintaining motor functions after three years. Without treatment, they would typically not survive beyond two years of age,” Levi Garraway, MD, PhD, chief medical officer and head of global product development, said in the announcement.  

“Support for the compelling efficacy of Evrysdi continues to grow for a broad range of people, including infants with one of the most severe forms of SMA,” Garraway continued.  

SMA is a genetic disease that affects the motor nerve cells in the spinal cord, resulting in progressive muscle wasting and weakness. SMA Type 1, also known as Werdnig–Hoffman disease and infantile-onset SMA, is a relatively common “rare disorder,” affecting nearly 1 in 6,000 babies.