SMA1 Infant Life-Saving Zolgensma Therapy Unavailable in Canada

Ground-breaking new drug Zolgensma that could stop progression of Spinal Muscular Atrophy Type 1 (SMA1) is the most expensive medication in the world
Source: Disabled World - Category: Disability Tags: Pharmaceutical Source Type: news

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MORC2 encodes an ATPase that plays a role in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous variants in MORC2 have been reported in individuals with autosomal-dominant Charcot-Marie-Tooth disease type 2Z and spinal muscular atrophy, and the onset of symptoms ranges from infancy to the second decade of life. Here, we present a cohort of 20 individuals referred for exome sequencing who harbor pathogenic variants in the ATPase module of MORC2. Individuals presented with a similar phenotype consisting of developmental delay, intellectual disability, growth retardation, microcephaly, and variable...
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Report Source Type: research
This study investigated agreement in illness perceptions of children with Spinal Muscular Atrophy (SMA) and their parents, the association between the child’s illness perceptions and QoL, and the relation between child-parent agreement in illness perceptions and the child’s QoL. Twenty -six children and their parents completed the Brief Illness Perception Questionnaire (BIPQ) and the Kidscreen-52 QoL questionnaire (children only). Correspondence between children’s and parents’ illness perceptions was low. Generally, parents held more negative illness perceptions about SMA. Whe reas children’s ...
Source: Journal of Developmental and Physical Disabilities - Category: Disability Source Type: research
Basel, 22 May 2020 - Roche (SIX: RO, ROG; OTCQX: RHHBY) will present new pooled pivotal satralizumab safety results for the treatment of neuromyelitis optica spectrum disorder (NMOSD), a rare, debilitating central nervous system disorder. These data are being presented at the 6th Annual Meeting of the European Academy of Neurology (EAN) and show satralizumab was well-tolerated in a broad patient population – including adolescents, for whom there is no approved medicine. Satralizumab is an investigational humanised monoclonal antibody that targets the interleukin-6 (IL-6) receptor, believed to play a key role in the i...
Source: Roche Media News - Category: Pharmaceuticals Source Type: news
Conclusion Our data show that fatigue does not play a relevant role in DMD. Analysis of fatigue is not a useful outcome parameter in DMD studies. For this reason we suggest the 2MWT, which is better accepted by the patients, as an alternative to the commonly 6MWT. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text
Source: Neuropediatrics - Category: Neurology Authors: Tags: Original Article Source Type: research
ConclusionPreference-based measures exhibit important issues and discrepancies relating to validity and responsiveness in the context of congenital mobility impairment, thus care must be taken when utilising these measures in conditions associated with congenital mobility impairments.
Source: Health Economics Review - Category: International Medicine & Public Health Source Type: research
Abstract Spinal muscular atrophy (SMA) is a severe, inherited disease characterized by the progressive degeneration and death of motor neurons of the anterior horns of the spinal cord, which results in muscular atrophy and weakness of variable severity. Its early-onset form is invariably fatal in early childhood, while milder forms lead to permanent disability, physical deformities and respiratory complications. Recently, two novel revolutionary therapies, antisense oligonucleotides and gene therapy, have been approved, and might prove successful in making long-term survival of these patients likely. In this persp...
Source: Neurobiology of Disease - Category: Neurology Authors: Tags: Neurobiol Dis Source Type: research
AbstractPrevious studies demonstrated the benefits of motor exercise and physical activity in neuromuscular disorders. However, very few papers assessed the effects of sport practise. The aim of this multicentre study was to assess the impact of sport activity on self-esteem and emotional regulation in a cohort of athletes with neuromuscular disorders. The 38 patients with Duchenne, Becker or other types of muscular dystrophy or spinal muscular atrophy practising sport (aged 13 –49 years) and 39 age-, gender-, disability- and disease-matched patients not practising sport were enrolled. Testing procedures to asse...
Source: Neurological Sciences - Category: Neurology Source Type: research
Spinal muscular atrophy (SMA) is an autosomal recessive condition characterized by degeneration of the anterior horn cells of the spinal cord, which causes progressive muscle atrophy and weakness. SMA type 1 is the most common type and is associated with severe disability and early mortality. Concomitant restrictive respiratory physiology often manifests with significant implications for anesthetic management. Here, we describe a successful spinal anesthetic for orthopedic surgery in an SMA type 1 patient receiving intrathecal nusinersen maintenance therapy, an antisense oligonucleotide designed to increase expression of t...
Source: A&A Case Reports - Category: Anesthesiology Tags: Case Report Source Type: research
This article covers the publically available data on therapeutic strategies that address the underlying cause of SMA and clinical data available on approved treatments and drugs in the pipeline.Expert opinion: The newer therapeutic options in SMA have a good safety profile and deliver a therapeutic benefit in most patients. It is essential that the recommended standards of care are delivered along with the drugs for the best outcomes. No biomarkers to distinguish responders from non-responders are available; it is important that biomarkers be identified. Early treatment is essential for the maximum efficacy of the newly av...
Source: Expert Opinion on Pharmacotherapy - Category: Drugs & Pharmacology Tags: Expert Opin Pharmacother Source Type: research
CONCLUSIONS: This proof-of-concept study is the first attempt to explore SMA in a comprehensive manner from the perspective of the ICF-CY using a selected set of codes. These codes define essential child dimensions that can make up an ICF-CY core set, as identified by a trained multidisciplinary team, to guide assessment, treatment and rehabilitation. CLINICAL REHABILITATION IMPACT: Although limited to a single patient, this study makes nonetheless a strong point: we suggest using the ICF-CY as an essential tool in SMA management at a time when gene therapy with nusinersen is changing the phenotypes of activity and fu...
Source: European Journal of Physical and Rehabilitation Medicine - Category: Rehabilitation Authors: Tags: Eur J Phys Rehabil Med Source Type: research
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