Roche’s Evrysdi Shows Remarkable Motor and Cognitive Outcomes in Children with SMA After Two Years of Early Treatment

Roche’s Evrysdi Shows Remarkable Motor and Cognitive Outcomes in Children with SMA After Two Years of Early Treatment

(IN BRIEF) Roche has announced positive two-year data from its RAINBOWFISH study, showcasing the effectiveness of Evrysdi® (risdiplam) in treating children with spinal muscular atrophy (SMA) when administered before symptoms appear. The study revealed that most children achieved key motor milestones, such as sitting, standing, and walking independently, with no need for permanent ventilation. All participants were able to swallow and feed orally. The treatment also demonstrated cognitive development similar to children without SMA. With Evrysdi approved in over 100 countries, the findings highlight the importance of early intervention to improve outcomes in children with SMA.

(PRESS RELEASE) BASEL, 14-Oct-2024 — /EuropaWire/ — Roche has shared promising two-year results from the ongoing RAINBOWFISH study, which evaluates the effectiveness and safety of its spinal muscular atrophy (SMA) treatment, Evrysdi® (risdiplam), in children treated pre-symptomatically. Data presented at the 29th World Muscle Society Congress reveal that the majority of infants who began treatment before six weeks of age achieved significant motor milestones such as sitting, standing, and walking independently. Additionally, all participants were able to swallow, feed orally, and none required permanent ventilation.

These findings are particularly significant for SMA, where early intervention is crucial due to the rapid onset of motor neuron degeneration before symptoms appear. Dr. Laurent Servais, Professor of Paediatric Neuromuscular Diseases at the MDUK Oxford Neuromuscular Centre, emphasized the importance of timely treatment, noting that children treated with Evrysdi have achieved milestones typically unattainable without treatment.

The study found that all children with three or more SMN2 gene copies achieved standing and walking milestones, while 60% of those with two SMN2 copies could stand and walk independently after two years of treatment. All participants demonstrated cognitive skills in line with typical child development, with no deaths or serious adverse events leading to discontinuation.

Evrysdi, which is currently the only non-invasive SMA treatment available, is approved in over 100 countries and has been used to treat more than 16,000 individuals globally. Levi Garraway, Roche’s Chief Medical Officer, highlighted the potential of early intervention with Evrysdi to significantly improve the quality of life for children with SMA, particularly when integrated with newborn screening programs. Roche is developing Evrysdi in partnership with the SMA Foundation and PTC Therapeutics.

About Evrysdi® (risdiplam)
Evrysdi is a survival motor neuron 2 (SMN2) splicing modifier designed to treat SMA caused by mutations in chromosome 5q that lead to survival motor neuron (SMN) protein deficiency. Evrysdi is administered daily at home in liquid form either by feeding tube or by mouth.

Evrysdi is designed to treat SMA by increasing and sustaining the production of SMN protein in the central nervous system (CNS) and peripheral tissues. SMN protein is found throughout the body and is critical for maintaining healthy motor neurons and core motor functions, such as swallowing, speaking and breathing.

Evrysdi was granted PRIME designation by the European Medicines Agency (EMA) in 2018 and Orphan Drug Designation by the U.S. Food and Drug Administration in 2017. In 2021, Evrysdi was awarded Drug Discovery of the Year by the British Pharmacological Society as well as the Society for Medicines Research Award for Drug Discovery. Evrysdi is currently approved in more than 100 countries, and the dossier is under review in a further 12 countries. A new risdiplam room-temperature stable tablet is currently under review by regulators.

Evrysdi is currently being, or has been, evaluated in numerous global multicentre trials in people with SMA:

• FIREFISH (NCT02913482) – an open-label, two-part pivotal clinical trial in infants with Type 1 SMA. Infants were approximately 5.5 months of age (median) at the time of enrollment and of the 58 infants that completed the first year of treatment, 52 entered the open-label extension study. The study met its primary endpoint and has concluded after five years of follow up.
• SUNFISH (NCT02908685) – a two-part, double-blind, placebo-controlled pivotal study in people aged 2-25 years with Types 2 or 3 SMA. The study met its primary endpoint.
• JEWELFISH (NCT03032172) – an open-label exploratory trial designed to assess the safety, tolerability, pharmacokinetics and pharmacodynamics in people with SMA aged six months to 60 years who received other investigational or approved SMA therapies for at least 90 days prior to receiving Evrysdi. The study has completed recruitment (n=174).
• RAINBOWFISH (NCT03779334) – an open-label, single-arm, multicentre study, investigating the efficacy, safety, pharmacokinetics, and pharmacodynamics of Evrysdi in babies (n=26), from birth to six weeks of age (at first dose) with genetically diagnosed SMA who are not yet presenting with symptoms. The study met its primary endpoint.
• MANATEE (NCT05115110) – a phase II/III clinical study to evaluate the safety and efficacy of GYM329 (RG6237), an anti-myostatin molecule targeting muscle growth, in combination with Evrysdi for the treatment of SMA in patients two-10 years of age. The FDA Office of Orphan Products Development granted GYM329 Orphan Drug Designation for the treatment of patients with SMA in December 2021. The study is currently recruiting.
• HINALEA 1 (NCT05861986) and HINALEA 2 (NCT05861999) – phase IV clinical studies to evaluate the effectiveness and safety of Evrysdi in patients under two years of age at enrollment, who received onasemnogene abeparvovec gene therapy either pre-symptomatically or post-symptomatically, following a genetically confirmed diagnosis of 5q–autosomal recessive SMA. The studies are currently recruiting.

About SMA
SMA is a severe, progressive neuromuscular disease that can be fatal. It affects approximately one in 10,000 babies and is the leading genetic cause of infant mortality. SMA is caused by a mutation of the survival motor neuron 1 (SMN1) gene, which leads to a deficiency of SMN protein. This protein is found throughout the body and is essential to the function of nerves that control muscles and movement. Without it, nerve cells cannot function correctly, leading to muscle weakness over time. Depending on the type of SMA, an individual’s physical strength and their ability to walk, eat or breathe can be significantly diminished or lost.

About Roche in Neuroscience
Neuroscience is a major focus of research and development at Roche. Our goal is to pursue groundbreaking science to develop new treatments that help improve the lives of people with chronic and potentially devastating diseases.

Roche is investigating more than a dozen medicines for neurological disorders, including multiple sclerosis, spinal muscular atrophy, neuromyelitis optica spectrum disorder, Alzheimer’s disease, Huntington’s disease, Parkinson’s disease and Duchenne muscular dystrophy. Together with our partners, we are committed to pushing the boundaries of scientific understanding to solve some of the most difficult challenges in neuroscience today.

About Roche
Founded in 1896 in Basel, Switzerland, as one of the first industrial manufacturers of branded medicines, Roche has grown into the world’s largest biotechnology company and the global leader in in-vitro diagnostics. The company pursues scientific excellence to discover and develop medicines and diagnostics for improving and saving the lives of people around the world. We are a pioneer in personalised healthcare and want to further transform how healthcare is delivered to have an even greater impact. To provide the best care for each person we partner with many stakeholders and combine our strengths in Diagnostics and Pharma with data insights from the clinical practice.

For over 125 years, sustainability has been an integral part of Roche’s business. As a science-driven company, our greatest contribution to society is developing innovative medicines and diagnostics that help people live healthier lives. Roche is committed to the Science Based Targets initiative and the Sustainable Markets Initiative to achieve net zero by 2045.

Genentech, in the United States, is a wholly owned member of the Roche Group. Roche is the majority shareholder in Chugai Pharmaceutical, Japan.

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SOURCE: Roche