Latest news with #risdiplam
Medscape
5 days ago
- Health
- Medscape
Start Spinal Muscular Atrophy Treatment at Birth?
Oral risdiplam (Evrysdi, Genentech) started in the first 6 weeks of life let most infants with presymptomatic spinal muscular atrophy (SMA) reach motor milestones typical of healthy babies, results of the RAINBOWFISH study showed. Infants treated before the development of clinical signs or symptoms of SMA had better functional and survival outcomes at 12 and 24 months than untreated infants in natural history studies. 'The impact of giving risdiplam soon after birth is quite dramatic. By age 2, we saw most of the children who we had treated were walking and in good general health,' Richard Finkel, MD, director of the experimental neuroscience program, St. Jude Children's Research Hospital, Memphis, Tennessee, said in a news release. The study was published online on August 13 in The New England Journal of Medicine . Altering Disease Trajectory SMA is a rare and often fatal genetic disease that causes progressive muscle weakness. It affects about 1 in 10,000 babies and is caused by a mutation in the survival motor neuron 1 ( SMN1 ) gene, which encodes the SMN protein, critical for the maintenance and function of motor neurons. Risdiplam is an orally administered, centrally and peripherally distributed small molecule that increases production of the SMN protein. As reported by Medscape Medical News , the FDA first approved oral risdiplam in 2020 for SMA in children older than 2 years. A label extension was approved 2 years later to include presymptomatic infants younger than 2 months with SMA, based on data from RAINBOWFISH. This new open-label study enrolled infants with genetically diagnosed SMA but no strongly suggestive clinical signs or symptoms. All infants were started on daily oral risdiplam (with the dose adjusted to 0.2 mg/kg of body weight) as early as 16 days of age. Of the eight children genetically predisposed to the most severe form of SMA, type 1, seven were able to sit at 12 months and five were able to walk by 24 months. Of the 18 children with three or more copies of the SMN2 gene (predicting less severe disease), all could sit by 12 months and walk by 24 months, with most reaching these milestones in timeframes comparable to those in children without SMA. The beneficial effects of risdiplam were evident across the spectrum of patients treated, but infants with higher SMN2 copy numbers and baseline ulnar compound muscle action potential (CMAP) amplitudes appeared to have more favorable responses, the researchers noted. All 23 infants who completed the 24-month assessment were alive without any respiratory support, and all maintained swallowing and oral feeding abilities. None of the children experienced any major treatment-related adverse events from daily risdiplam treatment. Early Treatment Critical 'For families facing a diagnosis of SMA, the results of this study offer real hope. Treating children before symptoms appear — when they are still developing normally — can change the entire trajectory of the disease. We are no longer just managing symptoms; we are preserving strength, function and quality of life from the very start,' study investigator Aledie Navas, MD, with Nemours Children's Hospital, Orlando, Florida, said in the release. The researchers are now testing the safety and efficacy of giving risdiplam prenatally, with promising early results reported earlier this year. In a linked editorial in The New England Journal of the Medicine , Charlotte Sumner, MD, with the Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, noted that risdiplam is one of three approved SMN-inducing treatments for SMA. The other two treatments are nusinersen, the intrathecally administered, splice-switching antisense oligonucleotide, and onasemnogene abeparvovec, the adeno-associated virus 9 gene-transfer therapy. 'All three drugs are substantially more effective when started before symptom onset, which has prompted neonatal screening programs for SMA in many countries to hasten treatment initiation,' Sumner pointed out. 'Sufficiently early SMA treatment probably not only halts irreversible neurodegeneration but also facilitates normal motor-neuron and muscle development,' Sumner noted.
Yahoo
04-06-2025
- Business
- Yahoo
Roche's Evrysdi tablet approved by European Commission as first and only for Spinal Muscular Atrophy (SMA)
Simplified storage and administration of new tablet formulation may provide greater freedom and independence for people with SMA Evrysdi offers the same efficacy and safety demonstrated in available oral solution Evrysdi is the only non-invasive disease-modifying SMA treatment, with more than 18,000 people with SMA treated globally to date Basel, 04 June 2025 - Roche (SIX: RO, ROG; OTCQX: RHHBY) announced today that the European Commission (EC) has approved a label extension for Evrysdi® (risdiplam) to include a new, room-temperature stable tablet for people living with spinal muscular atrophy (SMA). The 5mg tablet (approx. 6.5mm), which can either be swallowed whole or dispersed in water, can be taken with or without food and does not require refrigeration, when stored at room temperature. Administered at home, Evrysdi is the only non-invasive disease modifying treatment available for people living with SMA. 'The new Evrysdi tablet with its flexible administration represents progress toward more versatile SMA disease management," said Levi Garraway, M.D., Ph.D., Chief Medical Officer and Head of Global Product Development, Roche. 'With over 18,000 people treated to date, Evrysdi's proven efficacy, safety and convenience has significantly improved the course of disease for people living with SMA.' Evrysdi is designed to treat SMA by increasing and sustaining the production of SMN protein throughout the entire central nervous system (CNS) and in peripheral tissues. Together with this innovative mode of action, the new tablet formulation offers additional portability and convenience benefits for the thousands of people living with SMA, their families and caregivers. 'We welcome the development of new treatment formulations that have the potential to further simplify disease management and care for people living with SMA,' Nicole Gusset, Chief Executive Officer, SMA Europe commented. 'This is a disease requiring daily management, and it is paramount that people living with SMA, and those who care for them, are given options to optimise treatment administration.' The approval is based on data from a bioequivalence study (NCT04718181) evaluating the 5mg tablet formulation of Evrysdi, which can either be swallowed whole or dispersed in water. Results presented at SMA Europe's 4th Scientific International Congress in 2024 demonstrated that the tablet formulation and original oral solution provided bioequivalence to Evrysdi, meaning individuals taking the tablet can expect the same established efficacy and safety as the oral solution. The 5mg tablet formulation is suitable for people two years of age or older, who weigh 20kg (44 lbs) or more and are able to swallow without the use of a feeding tube. The original oral solution will remain available for those on other doses of Evrysdi and for those who may prefer the oral solution. Roche leads the clinical development of Evrysdi as part of a collaboration 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 of motor neuron (SMN) protein deficiency. Evrysdi is administered daily at home or on the go, either in liquid form (by feeding tube or by mouth) or in the form of a tablet, which can either be swallowed whole or dispersed in water. Evrysdi is designed to treat SMA by increasing and sustaining the production of SMN protein in the CNS and peripheral tissues. SMN protein is found throughout the body and is critical for maintaining healthy motor neurons and core functions. 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 (FDA) 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, with more than 18,000 people with SMA treated globally. Evrysdi is currently being, or has been, evaluated in numerous global multicenter 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 5 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 and has concluded after five years of follow up. JEWELFISH (NCT03032172) – an open-label exploratory trial designed to assess the safety, tolerability, pharmacokinetics and pharmacodynamics in people with SMA aged 6 months to 60 years who received other investigational or approved SMA therapies prior to receiving Evrysdi. The study has completed recruitment (n=174). RAINBOWFISH (NCT03779334) – an open-label, single-arm, multicenter study, investigating the efficacy, safety, pharmacokinetics, and pharmacodynamics of Evrysdi in babies (n=26), from birth to 6 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 2-10 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 2 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. PUPFISH (NCT05808764) – a Phase II, open-label study to investigate the pharmacokinetics and safety of Evrysdi in babies with SMA who are under 20 days of age (at first dose). The study is currently recruiting. About SMASMA 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 NeuroscienceNeuroscience 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 RocheFounded 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. For more information, please visit All trademarks used or mentioned in this release are protected by law. Roche Global Media RelationsPhone: +41 61 688 8888 / e-mail: Hans Trees, PhDPhone: +41 79 407 72 58 Sileia UrechPhone: +41 79 935 81 48 Nathalie AltermattPhone: +41 79 771 05 25 Lorena CorfasPhone: +41 79 568 24 95 Simon GoldsboroughPhone: +44 797 32 72 915 Karsten KleinePhone: +41 79 461 86 83 Nina MählitzPhone: +41 79 327 54 74 Kirti PandeyPhone: +49 172 6367262 Yvette PetillonPhone: +41 79 961 92 50 Dr Rebekka SchnellPhone: +41 79 205 27 03 Attachment Media Release Evrysdi Tablet EC Approval EnglishError in retrieving data Sign in to access your portfolio Error in retrieving data Error in retrieving data Error in retrieving data Error in retrieving data
Yahoo
04-06-2025
- Business
- Yahoo
Roche's Evrysdi tablet approved by European Commission as first and only for Spinal Muscular Atrophy (SMA)
Simplified storage and administration of new tablet formulation may provide greater freedom and independence for people with SMA Evrysdi offers the same efficacy and safety demonstrated in available oral solution Evrysdi is the only non-invasive disease-modifying SMA treatment, with more than 18,000 people with SMA treated globally to date Basel, 04 June 2025 - Roche (SIX: RO, ROG; OTCQX: RHHBY) announced today that the European Commission (EC) has approved a label extension for Evrysdi® (risdiplam) to include a new, room-temperature stable tablet for people living with spinal muscular atrophy (SMA). The 5mg tablet (approx. 6.5mm), which can either be swallowed whole or dispersed in water, can be taken with or without food and does not require refrigeration, when stored at room temperature. Administered at home, Evrysdi is the only non-invasive disease modifying treatment available for people living with SMA. 'The new Evrysdi tablet with its flexible administration represents progress toward more versatile SMA disease management," said Levi Garraway, M.D., Ph.D., Chief Medical Officer and Head of Global Product Development, Roche. 'With over 18,000 people treated to date, Evrysdi's proven efficacy, safety and convenience has significantly improved the course of disease for people living with SMA.' Evrysdi is designed to treat SMA by increasing and sustaining the production of SMN protein throughout the entire central nervous system (CNS) and in peripheral tissues. Together with this innovative mode of action, the new tablet formulation offers additional portability and convenience benefits for the thousands of people living with SMA, their families and caregivers. 'We welcome the development of new treatment formulations that have the potential to further simplify disease management and care for people living with SMA,' Nicole Gusset, Chief Executive Officer, SMA Europe commented. 'This is a disease requiring daily management, and it is paramount that people living with SMA, and those who care for them, are given options to optimise treatment administration.' The approval is based on data from a bioequivalence study (NCT04718181) evaluating the 5mg tablet formulation of Evrysdi, which can either be swallowed whole or dispersed in water. Results presented at SMA Europe's 4th Scientific International Congress in 2024 demonstrated that the tablet formulation and original oral solution provided bioequivalence to Evrysdi, meaning individuals taking the tablet can expect the same established efficacy and safety as the oral solution. The 5mg tablet formulation is suitable for people two years of age or older, who weigh 20kg (44 lbs) or more and are able to swallow without the use of a feeding tube. The original oral solution will remain available for those on other doses of Evrysdi and for those who may prefer the oral solution. Roche leads the clinical development of Evrysdi as part of a collaboration 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 of motor neuron (SMN) protein deficiency. Evrysdi is administered daily at home or on the go, either in liquid form (by feeding tube or by mouth) or in the form of a tablet, which can either be swallowed whole or dispersed in water. Evrysdi is designed to treat SMA by increasing and sustaining the production of SMN protein in the CNS and peripheral tissues. SMN protein is found throughout the body and is critical for maintaining healthy motor neurons and core functions. 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 (FDA) 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, with more than 18,000 people with SMA treated globally. Evrysdi is currently being, or has been, evaluated in numerous global multicenter 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 5 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 and has concluded after five years of follow up. JEWELFISH (NCT03032172) – an open-label exploratory trial designed to assess the safety, tolerability, pharmacokinetics and pharmacodynamics in people with SMA aged 6 months to 60 years who received other investigational or approved SMA therapies prior to receiving Evrysdi. The study has completed recruitment (n=174). RAINBOWFISH (NCT03779334) – an open-label, single-arm, multicenter study, investigating the efficacy, safety, pharmacokinetics, and pharmacodynamics of Evrysdi in babies (n=26), from birth to 6 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 2-10 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 2 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. PUPFISH (NCT05808764) – a Phase II, open-label study to investigate the pharmacokinetics and safety of Evrysdi in babies with SMA who are under 20 days of age (at first dose). The study is currently recruiting. About SMASMA 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 NeuroscienceNeuroscience 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 RocheFounded 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. For more information, please visit All trademarks used or mentioned in this release are protected by law. Roche Global Media RelationsPhone: +41 61 688 8888 / e-mail: Hans Trees, PhDPhone: +41 79 407 72 58 Sileia UrechPhone: +41 79 935 81 48 Nathalie AltermattPhone: +41 79 771 05 25 Lorena CorfasPhone: +41 79 568 24 95 Simon GoldsboroughPhone: +44 797 32 72 915 Karsten KleinePhone: +41 79 461 86 83 Nina MählitzPhone: +41 79 327 54 74 Kirti PandeyPhone: +49 172 6367262 Yvette PetillonPhone: +41 79 961 92 50 Dr Rebekka SchnellPhone: +41 79 205 27 03 Attachment Media Release Evrysdi Tablet EC Approval EnglishError in retrieving data Sign in to access your portfolio Error in retrieving data Error in retrieving data Error in retrieving data Error in retrieving data
