▎WuXiEdited by Kant Content Team

Recently, Roche announced positive two-year data from its ongoing RAINBOWFISH study at the 29th World Muscle Society (WMS) Congress. The study evaluates the efficacy and safety of its drug Evrysdi (risdiplam) in spinal muscular atrophy (SMA) patients who have not yet shown symptoms and began treatment within 6 weeks of birth. The research found,Most children reach key motor milestones, are able to swallow and feed orally, and demonstrate cognitive abilities consistent with healthy children, and none of the patients require permanent ventilation therapy.According to the press release,Evrysdi is the first non-invasive SMA therapy, has been approved in more than 100 countries, and over 16,000 SMA patients worldwide have received treatment.

SMA is a severe, progressive, and potentially fatal neuromuscular disease.It affects approximately one in ten thousand infants and is the leading genetic cause of infant mortality.SMA is caused bySMN1Caused by a gene mutation leading to a deficiency in the survival motor neuron protein (SMN).This protein is found throughout the body and is crucial for controlling the function of muscles and motor nerves.Although SMA mainly occurs during infancy, patients may be of any age range from infants to adults.

Evrysdi is a targetedSMN2A small molecule mRNA splicing modulator developed jointly by Genentech, a subsidiary of Roche, and PTC Therapeutics.Carried in the human bodySMN2Although the gene can also express SMN protein, the normal SMN protein expression level is very low due to mRNA splicing errors, which cannot compensate.SMN1SMN protein deficiency caused by gene mutation. Evrysdi regulatesSMN2Splicing of gene mRNA to increase the level of mRNA capable of expressing normal SMN protein, thereby alleviating symptoms in SMA patients.Evrysdi is a liquid formulation medication that can be taken orally at home or administered through a feeding tube in liquid form.According to the press release,Evrysdi is the first orally administered, non-invasive small molecule drug for SMA treatment, which can be delivered to the central nervous system (CNS) and peripheral tissues through systemic administration.

▲EvrysdiBy adjustingSMN2 RNA Splicing Enhances SMN Protein Levels (Image Source:PTC Therapeutics Official Website)

Analysis shows that all patients treated with Evrysdi and having three or moreSMN2All copied children (n=18) reached the milestones of standing and walking (100%)., which was assessed using the Bayley Scales of Infant Development, Third Edition (BSID-III), and the Hammersmith Infant Neurological Examination-2 (HINE-2) motor scale. Most patients achieved these milestones within the typical developmental stages for children as defined by the World Health Organization (WHO). Among those with twoSMN2Among the copied children (n=5), after two years of treatment, all children were able to sit (100%), and most children could stand and walk independently (60%).After two years of treatment, all children were able to swallow and receive oral feeding, and no child required permanent ventilation.Natural history studies show that,Without treatment, children with Type 1 SMA will not reach such milestones and typically do not survive past the age of two.

In addition,After two years of Evrysdi treatment, children in the study demonstrated cognitive abilities comparable to those of children without SMA., this is the assessment conducted through the BSID-III cognitive scale. According to the press release,This study is the first clinical trial in SMA research to use a standardized scale to assess cognition as an exploratory endpoint.

In terms of safety, no deaths or adverse events (AEs) leading to discontinuation of the drug or treatment were reported. The most common adverse events were teething, gastroenteritis, diarrhea, eczema, and fever. The adverse events observed in the second-year analysis were generally consistent with those observed in other trials of Evrysdi in SMA.

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References:

[1] Majority of children with spinal muscular atrophy (SMA) treated with Roche’s Evrysdi are able to sit, stand and walk independently, two-year data demonstrate. Retrieved October 14, 2024 from https://www.roche.com/media/releases/med-cor-2024-10-14

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