Roche presents data from the risdiplam pivotal FIREFISH and SUNFISH studies in spinal muscular atrophy at the 2019 AAN Annual Meeting
- In the dose-finding Part 1 of FIREFISH, infants with Type 1 spinal muscular atrophy survive and achieve key milestones beyond those expected in the natural history of the disease
- New data from the dose-finding Part 1 of SUNFISH reinforce risdiplam as a promising investigational therapy for people with Type 2 or 3 spinal muscular atrophy
- No treatment-related safety findings leading to withdrawal seen to date in risdiplam trials
About SMA
Spinal muscular atrophy (SMA) is a severe, inherited, progressive neuromuscular disease that causes devastating muscle atrophy and disease-related complications.[4]?It is the most common genetic cause of infant mortality and one of the most common rare diseases, affecting approximately one in 11,000 babies.[5]?SMA leads to the progressive loss of nerve cells in the spinal cord that control muscle movement.[6]?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.[7] SMA is caused by a mutation in the survival motor neuron 1 (SMN1) gene that results in a deficiency of SMN protein.[6]?SMN protein is found throughout the body and increasing evidence suggests SMA is a multi-system disorder and the loss of SMN protein may affect many tissues and cells, which can stop the body from functioning.[8]About risdiplam
Risdiplam is an investigational orally-administered medicine being studied in a broad range of patients with SMA from 1 month to 60 years of age. It is designed to provide sustained increases in SMN protein centrally and peripherally through daily dosing and is being evaluated for its potential ability to help the SMN2 gene produce more functional SMN protein throughout the body.[9] Roche leads the clinical development of risdiplam as part of a collaboration with the SMA Foundation and PTC Therapeutics. Risdiplam is currently being evaluated in four multicentre trials in people with SMA:- FIREFISH (NCT02913482) ? an open-label, two-part seamless pivotal clinical trial in infants with Type 1 SMA. Part 1 was a dose-escalation study in 21 infants. The primary objective of Part 1 was to assess the safety profile of risdiplam in infants and determine the dose for Part 2. Per protocol, four infants enrolled (?Cohort A?) were required to remain at their low dose for over 12 months in order to evaluate longer term safety at multiple doses. The remaining patients (?Cohort B?; n=17) were allowed by the protocol to more quickly escalate to the expected therapeutic dose selected in Part 2. Part 2 is a pivotal, single-arm study of risdiplam in 41 infants with Type 1 SMA for 24 months, followed by an open-label extension. Enrolment for Part 2 was completed in November 2018. The primary objective of Part 2 is to assess efficacy as measured by the proportion of infants sitting without support after 12 months of treatment, as assessed in the Gross Motor Scale of the Bayley Scales of Infant and Toddler Development ? Third Edition (BSID-III) (defined as sitting without support for 5 seconds). Part 2 is ongoing.
- SUNFISH (NCT02908685) ? a two-part, double-blind, placebo-controlled pivotal clinical trial in children and young adults (2?25 years old) with Type 2 or 3 SMA. Part 1 determined the dose for the confirmatory Part 2. The primary objective of Part 2 is to evaluate motor function using total score of Motor Function Measure 32 (MFM-32) at 12 months. Enrolment for Part 2 was completed in September 2018 with 180 patients randomised and the study is ongoing.
- JEWELFISH (NCT03032172) ? an open-label exploratory trial in people with all types of SMA aged 6 months?60 years who have been previously treated with SMN-targeting therapy or olesoxime. The study is currently recruiting.
- RAINBOWFISH (NCT03779334) ? a new trial in pre-symptomatic SMA initiated earlier this year.
About Roche in neuroscience
Neuroscience is a major focus of research and development at Roche. The company?s goal is to develop treatment options based on the biology of the nervous system to help improve the lives of people with chronic and potentially devastating diseases. Roche has more than a dozen investigational medicines in clinical development for diseases that include multiple sclerosis, spinal muscular atrophy, neuromyelitis optica spectrum disorder, Alzheimer?s disease, Huntington?s disease, Parkinson?s disease, Duchenne muscular dystrophy and autism.About Roche
Roche is a global pioneer in pharmaceuticals and diagnostics focused on advancing science to improve people?s lives. The combined strengths of pharmaceuticals and diagnostics under one roof have made Roche the leader in personalised healthcare ? a strategy that aims to fit the right treatment to each patient in the best way possible. Roche is the world?s largest biotech company, with truly differentiated medicines in oncology, immunology, infectious diseases, ophthalmology and diseases of the central nervous system. Roche is also the world leader in in vitro diagnostics and tissue-based cancer diagnostics, and a frontrunner in diabetes management. Founded in 1896, Roche continues to search for better ways to prevent, diagnose and treat diseases and make a sustainable contribution to society. The company also aims to improve patient access to medical innovations by working with all relevant stakeholders. Thirty medicines developed by Roche are included in the World Health Organization Model Lists of Essential Medicines, among them life-saving antibiotics, antimalarials and cancer medicines. Moreover, for the tenth consecutive year, Roche has been recognised as the most sustainable company in the Pharmaceuticals Industry by the Dow Jones Sustainability Indices (DJSI). The Roche Group, headquartered in Basel, Switzerland, is active in over 100 countries and in 2018 employed about 94,000 people worldwide. In 2018, Roche invested CHF 11 billion in R&D and posted sales of CHF 56.8 billion. 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?www.roche.com.*Current location of Investigator: Dubowitz Neuromuscular Centre, UCL, Institute of Child Health, Great Ormond Street Hospital, London, UK All trademarks used or mentioned in this release are protected by law.