Alternative gene therapy target identified in spinal muscular atrophy mice

Nature Reviews Neurology, Published online: 04 September 2019; doi:10.1038/s41582-019-0262-5Alternative gene therapy target identified in spinal muscular atrophy mice
Source: Nature Reviews Neurology - Category: Neurology Authors: Source Type: research

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 To cure the previously incurable we must take two giant steps: the first towards better understanding the science behind a cure, and the second towards ensuring accessibility for those people in need of the treatment.   Although there is still much to discover, we got the science right some time ago. The first gene replacement therapy – Gendicine (Shenzhen SiBiono GeneTech) – was approved in China in 2003 and has been successfully administered to more than 30,000 patients with head and neck squamous cell carcinoma. A single dose of this medication costs $400.  Another example of early ...
Source: EyeForPharma - Category: Pharmaceuticals Authors: Source Type: news
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder due to mutations in the SMN1 gene, causing degeneration of motor neurons in the spinal cord, with subsequent muscle wasting and weakness. In the last few years there have been exciting advances with revised standards of care and clinical trials using different therapeutic approaches such as antisense oligonucleotides [1,2], small molecules or gene therapy [3], showing increased life expectancy and functional and respiratory improvements.
Source: Neuromuscular Disorders - Category: Neurology Authors: Tags: Review Source Type: research
Spinal muscular atrophy (SMA) is the most frequent genetic cause of infant death. It is an autosomal recessive neuromuscular disorder due to mutations in the SMN1 gene, leading to a selective loss of spinal cord -motor neurons and proximal muscle weakness. Remarkable progress has been made in the last years on the development of therapeutic approaches for SMA, including gene therapy. In particular, intravenous administration of self-complementary (sc) recombinant AAV9-SMN1 vectors have shown efficacy in several animal models and a clinical trial in type 1 SMA patients.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Infantile onset SMA is the most common genetic cause of death in infants. Since the introduction of Standards of Care (SoC), a more proactive approach to care for SMA resulted in improvements in the natural history of the disease. However, for SMA1 infants the approach has, until more recently, with the introduction of novel treatments like antisense nucleotide and gene therapy, in most cases been palliative. In view of this dramatic change in the care of SMA patients, from a palliative approach to causal therapies, an audit was conducted to identify the mortality of SMA1-3 patients accessing neuromuscular centres in Newca...
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
The last few years have seen great advances in the treatment for spinal muscular atrophy (SMA) and new potential therapeutic approaches, including gene therapy, look promising. There is now clear evidence that early treatments are associated with better long-term clinical outcomes, highlighting the importance of an early genetic diagnosis. We reviewed the diagnostic pathway of SMA type 1 in the two main sites of the national MRC Centres for Neuromuscular Diseases (London and Newcastle), in order to identify any delay in the diagnosis and suggest areas for improvement to optimise patient's access to standards of care and novel therapies.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Multivitamins, drugs, gene therapies, human skin, heart, eyeballs, kidneys, entire dead bodies – everything comes with a price tag. Putting aside the moral questions of why and how come that the capitalist market priced even our body parts and health, we asked the question of how much is life worth: what is the maximum that you would/should pay for a life-saving drug? How high is too high a cost if a drug can save 200-300 babies a year from debilitating illness or death? And ultimately, does the pricing of new technologies, especially gene therapies, enable to fulfill their promise? There’s a price for ever...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Bioethics Biotechnology Future of Pharma Genomics cost daraprim drug drug price Gene gene therapy genetics insulin life medication pricing policy rare disease rare disorder Source Type: blogs
Spinal muscular atrophy (SMA) is a rare neuromuscular condition, characterized by loss of motor neurons as a result of a mutation in the survival motor neuron gene. This results in muscle wasting and in the most common and severe type, death before 24 months. Over the recent years there has been a dynamic shift in the therapeutic options for these patients involving both clinical trials in genetic modifying therapies to indirectly improve the survival motor neuron protein level and hence strength, muscle promotor therapies, up/down regulation of modifier genes and more recently gene therapy to replace the mutated survival motor neuron gene.
Source: Paediatrics and Child Health - Category: Pediatrics Authors: Tags: Symposium: neurology Source Type: research
Date: August 26, 2019 Issue #:  1579Summary:  On August 6, 2019, the FDA issued a statement on data manipulation/inaccuracy issues withZolgensma, a virus vector-based gene therapy approved for one-time IV treatment of children
Source: The Medical Letter - Category: Drugs & Pharmacology Authors: Source Type: research
Abstract Antisense oligonucleotides (ASOs) are a widely used form of gene therapy, which is translatable to multiple disorders. A major obstacle for ASO efficacy is its bioavailability for in vivo and in vitro studies. To overcome this challenge we use cell-penetrating peptides (CPPs) for systemic delivery of ASOs. One of the most advanced clinical uses of ASOs is for the treatment of spinal muscular atrophy (SMA). In this chapter, we describe the techniques used for in vitro screening and analysing in vivo biodistribution of CPP-conjugated ASOs targeting the survival motor neuron 2, SMN2, the dose-dependent modif...
Source: Mol Biol Cell - Category: Molecular Biology Authors: Tags: Methods Mol Biol Source Type: research
AveXis knowingly submitted manipulated data in its application for Zolgensma, the first gene therapy approved for spinal muscular atrophy, the agency says; the product will remain on market for now.Medscape Medical News
Source: Medscape Neurology and Neurosurgery Headlines - Category: Neurology Tags: Neurology & Neurosurgery News Source Type: news
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