Cardiac pathology in spinal muscular atrophy: a systematic review

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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Basel, 12 June 2020 - Roche (SIX: RO, ROG; OTCQX: RHHBY) today presented two-year data from Part 1 of its pivotal SUNFISH trial in people aged 2-25 years with Type 2 or 3 spinal muscular atrophy (SMA) at the virtual Cure SMA Annual Conference, 8-12 June, 2020. The results of an exploratory efficacy analysis show risdiplam significantly improved motor function after 24 months of treatment compared to natural history data. In addition, preliminary 12 month data from JEWELFISH, a trial in people with all types of SMA aged 6 months to 60 years previously treated with other SMA therapies, showed that treatment with risdiplam le...
Source: Roche Media News - Category: Pharmaceuticals Source Type: news
Basel, 28 April 2020 - Roche (SIX: RO, ROG; OTCQX: RHHBY) today presented 1-year data from FIREFISH Part 2, a pivotal global study evaluating risdiplam in infants aged 1 – 7 months old with symptomatic Type 1 spinal muscular atrophy (SMA). The study met its primary endpoint with 29% of infants (12/41; p
Source: Roche Media News - Category: Pharmaceuticals Source Type: news
Basel, 07 April 2020 - Roche (SIX: RO, ROG; OTCQX: RHHBY), today announced that the U.S. Food and Drug Administration (FDA) has extended the Prescription Drug User Fee Act (PDUFA) date for its review of the New Drug Application (NDA) of risdiplam with a decision expected by August 24, 2020. The extension is a result of the recent submission of additional data by Roche, including data from the pivotal SUNFISH Part 2 study, in close collaboration with the FDA. These data were recently presented at the 2nd International Scientific and Clinical Congress on Spinal Muscular Atrophy. In November 2019, the FDA granted Priority Rev...
Source: Roche Investor Update - Category: Pharmaceuticals Source Type: news
             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
Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable prese...
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
Spinal muscular atrophy (SMA) is one of the most common rare diseases with 1 in 10,000 people worldwide affected. It is an autosomal-recessive disorder caused by mutations in the survival motor neuron 1 gene (SMN1) leading to motor neuron degeneration. Clinically, SMA manifests in various ranges of severity including progressive muscle weakness and loss of motor function. Several therapeutic strategies, including modulation of SMN2 splicing and SMN1 replacement by gene therapy, are currently under investigation.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
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