Spinal muscular atrophy (SMA) is a severe progressive neuromuscular disorder caused by mutations in the surviving motor neuron 1 (SMN1) gene, resulting in a deficiency of the SMN protein, which is essential for the neural function that controls muscles and movements, so that nerve cells cannot function properly, resulting in muscle weakness over time. On March 16, Roche released new data on Evrysdi (risdiplam) treatment of SMA.
Evrysdi is a viable motor neuron 2 (SMN2) splicing regulator designed to treat SMAs caused by chromosome 5q mutations that cause SMN protein deficiency. Evrysdi is administered daily at home in liquid form by oral or feeding tube.
Evrysdi(risdiplam)
The presentation includes three years of new data from the SUNFISH study, further confirming the long-term efficacy and safety of Evrysdi in a wide range of people aged 2-25 years of type 2 or type 3 SMA. Other presentations include exploratory two-year efficacy data from SUNFISH Part 2 showing that Evrysdi improves or stabilizes motor function compared to untreated external controls.
Roche also announced the latest interim data from the RAINBOWFISH study, which looked at infants under SMA under two years of age before symptoms appeared. The data were presented at the Muscular Dystrophy Association (MDA) Clinical and Scientific Conference on March 13-16, 2022.
In the SUNFISH study, the overall score for motor function measurement 32 (MFM32) in people treated with Evrysdi continued into the third year compared to the baseline increase previously observed in the first year. The increase in total revised upper limb module (RULM) and Hammersmith Functional Motor Scale Extension (HFMSE) scores relative to baseline also continued between the first and third years.
In the SUNFISH study, Evrysdi was well tolerated over a three-year period. The overall incidence of adverse events (AE) at SUNFISH decreased over three years, and a trend towards a decrease in the incidence of serious adverse events (SAEs) was observed in the third year of treatment. Overall, AE and SAE reflect underlying disease, and no treatment-related AE led to withdrawal from the study.
In addition, for the first time, an external comparative analysis of sunfish two-year data from untreated control groups was conducted.
A weighted exploratory analysis of the MFM overall score showed that in SUNFISH Part 2, the proportion of patients who experienced significant improvement (change ≥3 points) or stability (change ≥0 points) in 24 months of administration of Evrysdi was higher than that of the control group that did not receive treatment. P=0.025 and p=0.002, respectively.
In addition, the latest interim data from the RAINBOWFISH study demonstrate the safety and efficacy of Evrysdi for newborns. The results showed that most infants who were treated with Evrysdi for at least 12 months were able to stand and walk within the standard time frame for healthy infants. In January, the U.S. Food and Drug Administration (FDA) approved a priority review of supplemental new drug applications (sNDAs) to use Evrysdi for pre-symptom infants under two months of age with SMA.
Note: This article aims to introduce medical and health research, without any basis for medication, specific medication guidelines, please consult the attending physician.