Roche ’s Risdiplam meets primary endpoint in pivotal FIREFISH trial in infants with type 1 spinal muscular atrophy

             Basel, 23 January 2020 - Roche (SIX: RO, ROG; OTCQX: RHHBY) today announced positive topline results from the pivotal Part 2 of the FIREFISH study, evaluating risdiplam in infants aged 1-7 months with Type 1 spinal muscular atrophy (SMA). The primary outcome measure of the study was the proportion of infants sitting without support for at least five seconds at 12-months of treatment, assessed by the Gross Motor Scale of the Bayley Scales of Infant and Toddler Development Third Edition (BSID-III). Safety for risdiplam in the FIREFISH study was consistent with its known safety profile and no new safety signals were identified. To date, more than 400 patients have been treated with risdiplam across all studies, with no treatment related safety findings leading to study withdrawal in any risdiplam trial.“This large, global trial confirms the efficacy of risdiplam in an advanced and difficult-to-treat population, including many infants whose disease had already progressed significantly before starting treatment,” said Levi Garraway, M.D., Ph. D., Roche’s Chief Medical Officer and Head of Globa l Product Development. “We are very encouraged by these results and we look forward to sharing them with regulators. We also thank the entire SMA community for their continued partnership.” Risdiplam is an investigational survival motor neuron-2 (SMN2) splicing modifier, designed to in...
Source: Roche Investor Update - Category: Pharmaceuticals Source Type: news

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Source: Revista Espanola de Enfermedades Digestivas - Category: Gastroenterology Tags: Rev Esp Enferm Dig Source Type: research
Publication date: Available online 14 February 2020Source: Drug Discovery Today: Disease ModelsAuthor(s): Daniela Braconi, Annalisa Santucci
Source: Drug Discovery Today: Disease Models - Category: Drugs & Pharmacology Source Type: research
Source: Neurological Sciences - Category: Neurology Source Type: research
Spinal muscular atrophy (SMA) is a motoneuron disease caused by the loss of the geneSMN1, encoding a protein essential for motoneuron survival. Additional copies of an alternateSMN gene,SMN2, are present in the genome, but exon 7 is skipped in SMN2 mRNA producing an unstable protein (SMN Δ7). Therapeutic approaches for SMA include (1) viral‐mediated replacement ofSMN1, (2) antisense oligonucleotide (ASO) or small molecule mediated correction SMN2 splicing, and (3) increasedSMN2 expression induced by histone deacetylase (HDAC) inhibitors. This Editorial highlights this study by Pagliarni et al. in which they used co...
Source: Journal of Neurochemistry - Category: Neuroscience Authors: Tags: EDITORIAL HIGHLIGHT Source Type: research
             Basel, 23 January 2020 - Roche (SIX: RO, ROG; OTCQX: RHHBY) today announced positive topline results from the pivotal Part 2 of the FIREFISH study, evaluating risdiplam in infants aged 1-7 months with Type 1 spinal muscular atrophy (SMA). The primary outcome measure of the study was the proportion of infants sitting without support for at least five seconds at 12-months of treatment, assessed by the Gross Motor Scale of the Bayley Scales of Infant and Toddler Development Third Edition (BSID-III). Safety for risdiplam in the FIREFISH study was con...
Source: Roche Media News - Category: Pharmaceuticals Source Type: news
Reena Goswami1, Gayatri Subramanian2, Liliya Silayeva1, Isabelle Newkirk1, Deborah Doctor1, Karan Chawla2, Saurabh Chattopadhyay2, Dhyan Chandra3, Nageswararao Chilukuri1 and Venkaiah Betapudi1,4* 1Neuroscience Branch, Research Division, United States Army Medical Research Institute of Chemical Defense, Aberdeen, MD, United States 2Department of Medical Microbiology and Immunology, University of Toledo College of Medicine and Life Sciences, Toledo, OH, United States 3Roswell Park Comprehensive Cancer Center, Buffalo, NY, United States 4Department of Physiology and Biophysics, Case Western Reserve University, Clev...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Spinal muscular atrophy (SMA) is a rare, hereditary, autosomal recessive neuromuscular disorder caused by deletion of the survival motor neuron 1 gene (SMN1). Type I SMA is one of the most severe forms of SMA that affects infants between 0-6 months of age where they never develop the ability to sit and have a short life expectancy. Nusinersen is the first approved treatment for SMA, and prior management of the disease centred on the symptomatic treatment of respiratory, nutritional, and orthopaedic function decline.
Source: Value in Health - Category: International Medicine & Public Health Authors: Source Type: research
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Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Source Type: research
Authors: Verschueren A Abstract Motor or motor-predominant neuropathies may arise from disease processes affecting the motor axon and/or its surrounding myelin. Lower motor neuron syndrome (LMNS) arises from a disease process affecting the spinal motor neuron itself. The term LMNS is more generally used, rather than motor neuronopathy, although both entities are clinically similar. Common features are muscle weakness (distal or proximal) with atrophy and hyporeflexia, but no sensory involvement. They can be acquired or hereditary. Immune-mediated neuropathies (multifocal motor neuropathy, motor-predominant chronic ...
Source: Revue Neurologique - Category: Neurology Tags: Rev Neurol (Paris) Source Type: research
Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. The presence of a second, nearl...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Source Type: research
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