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Today, Roche announced the results of its latest three-year clinical trial of its oral therapy Evrysdi (risdiplam) for patients with type 1 spinal muscular atrophy (SMA). The results of the trial showed that an estimated 91% of patients with type 1 SMA who received Evrysdi were still alive after 3 years of treatment and continued to improve or maintain motor function. These results further demonstrate the long-term efficacy and safety of Evrysdi.
SMA is a progressive, potentially fatal, severe neuromuscular disorder. It is the leading genetic cause of infant death. SMA is due to a mutation in the SMN1 gene that results in a deficiency of motor neuron survival protein (SMN). This protein is present throughout the body and is essential for controlling the function of muscles and motor nerves. Although the SMN2 gene carried in the human body can also express the SMN protein, due to the mRNA splicing error, the normal SMN protein expression level is very low, and the SMN protein deletion caused by the SMN1 gene mutation cannot be compensated. Type 1 SMA is the most severe type of SMA, with patients showing symptoms within 6 months of birth and, if left untreated, usually dying before the age of 2 years.
Evrysdi is a small molecule mRNA splicing regulator for the SMN2 gene developed by Genentech in collaboration with PTC Therapeutics. Evrysdi relieves symptoms in patients with SMAs by modulating splicing of the SMN2 gene mRNA to increase mRNA levels expressing normal SMN proteins. Evrysdi is a liquid-formulated drug that can be administered orally at home or in liquid form through a feeding tube. The U.S. FDA approved the drug in August 2020, making it the first oral therapy approved for the treatment of SMA for infants and adults aged 2 months and older with SMA.
This clinical trial evaluated the efficacy and safety of Evrysdi in children aged 1 to 7 months of age with type 1 SMA. Trial results showed that children treated with Evrysdi maintained or improved their ability to sit up without assistance at 24 to 36 months. Of the 48 children who were able to be evaluated, 32 maintained the ability to sit up without assistance for at least 5 seconds after 24 months of treatment, and 4 acquired this ability after 24 months of treatment. None of the children who have acquired this ability have lost this ability after 3 years of treatment.
Most children treated with Evrysdi were maintained or improved by the Hammersmith Infant Neurological Scale 2 (HINE-2) between 24 and 36 months of age, including head upright, standing without assistance, and walking independently.
"These long-term results for infants treated with Evrysdi are very encouraging, with the vast majority improving or maintaining motor function after three years. Without treatment, they usually cannot survive more than two years. Dr. Levi Garraway, Roche's Chief Medical Officer and Head of Global Product Development, said, "These results further support that Evrysdi can provide convincing outcomes for a wide range of SMA patients, including infants with the most severe SMA types." ”
Resources:
[1] New three-year data for Roche’s Evrysdi (risdiplam) show long-term improvements in survival and motor milestones in babies with Type 1 spinal muscular atrophy (SMA). Retrieved April 29, 2022, from https://www.roche.com/media/releases/med-cor-2022-04-29
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