Express has shown efficacy for SMA patients aged 1-60 years, and the latest clinical results of Roche's innovative oral therapy are positive

▎ WuXi AppTec content team editor On June 11, 2021, Roche announced that oral spinal muscular atrophy (SMA) therapy Evrysdi (risdiplam) has obtained positive results in two clinical studies
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The latest data from the trial showed that in patients between 1 and 60 years old who had previously received other SMA therapies, Evrysdi more than doubled the level of SMN protein, and the safety was consistent with previous studies
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In addition, SMA infants under 2 months who started treatment before the onset of symptoms reached age-consistent exercise milestones and improved exercise function after receiving Evrysdi treatment for at least 12 months
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It is worth mentioning that risdiplam's regulatory application has been included in the priority review in China and is expected to be approved this year
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SMA is a serious progressive neuromuscular disease that can be fatal
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It is the main genetic cause of infant death
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SMA is caused by a mutation in the SMN1 gene, which results in a deficiency of SMN protein
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This protein is found throughout the body and is essential for the function of neurons that control muscles and movement
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Without it, nerve cells can't function normally, which will cause muscle weakness over time
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Depending on the type of SMA, an individual's physical strength and ability to walk, eat, or breathe may be significantly weakened or lost
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There are two genes that can produce SMN protein in the human body, namely SMN1 gene and SMN2 gene, SMN1 gene is the dominant gene, SMN2 gene only produces a small amount of SMN protein (about 10%)
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Evrysdi is a SMN2 splicing regulator.
Although the SMN2 gene carried in the human body can also express SMN protein, the normal SMN protein expression level is very low due to mRNA splicing errors, which cannot compensate for the SMN protein loss caused by the SMN1 gene mutation
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Evrysdi regulates the splicing of SMN2 gene mRNA to increase the level of mRNA that can express normal SMN protein, thereby alleviating the symptoms of SMA patients
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The press release pointed out that the open-label JEWELFISH trial recruited the broadest patient population in SMA clinical trials, including SMA type 1-3 patients of various ages and disease severity who had been treated with other therapies
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The latest trial data shows that regardless of which therapy the patient has previously received, Evrysdi will continue to increase the patient's median SMN protein level by >2 times compared with baseline
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In addition, an exploratory interim analysis showed that the patient's motor function remained stable after one year of treatment
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In terms of safety, the safety characteristics of the trial are consistent with previous studies
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In addition, Roche also provided preliminary data from another RAINBOWFISH trial, which showed that among the five infants who received Evrysdi treatment for at least 12 months, all infants achieved sitting, turning and crawling without assistance
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"Data from JEWELFISH further supports the use of Evrysdi in patients aged 1 to 60 years
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"Roche Chief Medical Officer and head of global product development Dr.
Levi Garraway said, "In addition, the early findings of the RAINBOWFISH trial are very encouraging
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All in all, we hope that Evrysdi will continue to help address the unmet treatment needs of the diverse SMA patient population
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"Reference: [1] New Roche data for Evrysdi show improved motor function in pre-symptomatic babies after one year and confirm safety profile in previously treated people with spinal muscular atrophy (SMA).
Retrieved June 11, 2021, from https:/ / Note: This article aims to introduce the progress of medical and health research, not a treatment plan recommendation
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If you need treatment plan guidance, please go to a regular hospital
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