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Roche’s Evrysdi Achieves Remarkable Milestone in SMA Treatment for Pre-Symptomatic Babies

In a groundbreaking development, Roche has unveiled highly positive results from the primary analysis of the ongoing RAINBOWFISH study, which evaluated the efficacy and safety of their medication, Evrysdi® (risdiplam), in babies with pre-symptomatic Spinal Muscular Atrophy (SMA). The study included a group of 26 infants, aged from birth to six weeks. These findings were presented at the 28th World Muscle Society (WMS) Congress held from 3rd to 7th October 2023.

Evrysdi, a survival motor neuron 2 (SMN2) splicing modifier, represents a significant milestone as it is the only non-invasive SMA treatment. It can be administered within hours of a baby’s birth, with the potential to enable them to achieve milestones such as sitting, standing, and walking, akin to individuals without SMA. These results further emphasize the medication’s safety and effectiveness, confirming its efficacy in patients of varying age groups, including babies, children, and adults.

The critical aspect illuminated by clinical studies is that the loss of motor neurons in SMA may begin before any symptoms manifest. As such, early intervention becomes pivotal in improving clinical outcomes. The RAINBOWFISH study encompassed infants with two or more copies of the SMN2 gene, and it is important to note that the severity of the disease is generally inversely related to the number of these gene copies.

The RAINBOWFISH study achieved its primary endpoint with an impressive 80% of the primary efficacy population, consisting of five infants, demonstrating the ability to sit without support for at least five seconds after one year of Evrysdi treatment. This assessment was conducted using the Bayley Scales of Infant and Toddler Development, third edition (BSID-III). Additionally, 81% of the infants could independently sit for 30 seconds, including those with a low CMAP (Compound Muscle Action Potential) amplitude at baseline, and most were progressing to standing and walking. Remarkably, without treatment, children afflicted with Type 1 SMA would not be expected to sit.

This study marked a significant step forward as it was the first to assess cognition using a standardized scale (BSID) as an exploratory endpoint. The results indicate that after one year of Evrysdi treatment, the infants exhibited cognitive skills typical of normal child development.

Adverse events (AEs) reported during the study were more reflective of the infants’ age rather than the underlying SMA condition. The majority of AEs were not considered related to the treatment, and no deaths or AEs that led to withdrawal or treatment discontinuation were observed. Common AEs included teething, COVID-19, pyrexia, gastroenteritis, eczema, and constipation. Importantly, the AEs observed in the RAINBOWFISH primary analysis were generally consistent with AEs reported in other Evrysdi trials for SMA.

The significance of initiating SMA treatment before symptoms manifest is underscored by these findings. This approach aims to preserve motor neurons while they are still abundant, which can have a profound positive impact on the disease’s progression.

Roche’s ongoing commitment to SMA research is evident, with plans to investigate Evrysdi in combination with an anti-myostatin molecule, designed to promote muscle growth, in patients aged 2-10 years with SMA in the Phase 2/3 MANATEE trial.

Spinal Muscular Atrophy (SMA) is a severe neuromuscular disease, often fatal, and is the leading genetic cause of infant mortality. It is caused by a mutation in the survival motor neuron 1 (SMN1) gene, resulting in a deficiency of the SMN protein. This protein is vital for nerve function in controlling muscles and movement. Without it, nerve cells lose their function, leading to progressive muscle weakness and, in some cases, a loss of the ability to walk, eat, or breathe.

Roche’s commitment to neuroscience is evidenced by its efforts to develop new treatments for a range of neurological disorders, including SMA, multiple sclerosis, Alzheimer’s disease, and more.

The positive results from the RAINBOWFISH study represent a significant advancement in SMA treatment, offering hope for patients and their families. Roche continues to play a crucial role in advancing medical science and improving the lives of those affected by severe diseases. Evrysdi’s approval and effectiveness across different age groups mark a milestone in the treatment of SMA and provide new possibilities for those affected by this condition.

Source: F. Hoffmann-La Roche Ltd


Dr Chinenye Otorkpa

Dr. Chinenye Otorkpa is a Family Physician with a passion for women and children's well-being. She holds a Master's degree in International Public health from Liverpool John Moores University and an active membership in the World Association of Family Physicians (WONCA). She combines her medical expertise and global network connections to provide holistic healthcare.
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