Adequately Reflecting The Clinical Benefits In Rare Disease Economic Modeling Using Sma Type I As A Casestudy

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

Related Links:

Publication date: Available online 31 March 2020Source: Food Quality and PreferenceAuthor(s): Andrijana Mušura Gabor, Bojan Stojnić, David Ban-Ostić
Source: Food Quality and Preference - Category: Food Science Source Type: research
This study consists of a case series describing 13 single pregnancies of 11 women with a history of anorexia nervosa, and a cross-sectional study comparing 13 cases with 240 healthy controls. In the case group, nine cases conceived while underweight, including three who had fertility treatment. Anorexia symptoms during pregnancy were quite common, and pregnant smokers presented with extremely disturbed eating behaviors. In a cross-sectional study, premature birth and the standard deviations from the mean birth weight and mean head circumference at birth were evaluated as outcome measures. The adjusted odds ratios or the ad...
Source: The Tohoku Journal of Experimental Medicine - Category: Research Authors: Tags: Tohoku J Exp Med Source Type: research
Publication date: May 2020Source: Journal of Functional Foods, Volume 68Author(s): Lorenzo Zanella, Fabio Vianello
Source: Journal of Functional Foods - Category: Nutrition Source Type: research
Authors: Dunne-Castagna VP, Mills DA, Lönnerdal B Abstract Secretory immunoglobulin A (SIgA) is intimately involved in the transfer of maternal immunity to the newborn breastfed infant. Recent research demonstrates the significance of SIgA in the initial development of the newborn's microbiota and in the establishment of a tolerogenic immunologic disposition towards nonpathogenic organisms and environmental antigens. SIgA has long been known to prevent pathogen binding to the host epithelium through immune exclusion involving numerous mechanisms. This process primarily involves T-cell-dependent, somatically hy...
Source: Nestlee Nutrition Institute Workshop Series - Category: Nutrition Tags: Nestle Nutr Inst Workshop Ser 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 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
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
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
More News: Brain | Genetics | Motor Neurone Disease | Neurology | Nutrition | Orthopaedics | Rare Diseases | Respiratory Medicine | Spinal Muscular Atrophy