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Nusinersen

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https://www.readbyqxmd.com/read/29443664/nusinersen-versus-sham-control-in-later-onset-spinal-muscular-atrophy
#1
Eugenio Mercuri, Basil T Darras, Claudia A Chiriboga, John W Day, Craig Campbell, Anne M Connolly, Susan T Iannaccone, Janbernd Kirschner, Nancy L Kuntz, Kayoko Saito, Perry B Shieh, Már Tulinius, Elena S Mazzone, Jacqueline Montes, Kathie M Bishop, Qingqing Yang, Richard Foster, Sarah Gheuens, C Frank Bennett, Wildon Farwell, Eugene Schneider, Darryl C De Vivo, Richard S Finkel
BACKGROUND: Nusinersen is an antisense oligonucleotide drug that modulates pre-messenger RNA splicing of the survival motor neuron 2 ( SMN2) gene. It has been developed for the treatment of spinal muscular atrophy (SMA). METHODS: We conducted a multicenter, double-blind, sham-controlled, phase 3 trial of nusinersen in 126 children with SMA who had symptom onset after 6 months of age. The children were randomly assigned, in a 2:1 ratio, to undergo intrathecal administration of nusinersen at a dose of 12 mg (nusinersen group) or a sham procedure (control group) on days 1, 29, 85, and 274...
February 15, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29434670/advances-in-spinal-muscular-atrophy-therapeutics
#2
REVIEW
Valeria Parente, Stefania Corti
Spinal muscular atrophy (SMA) is a progressive, recessively inherited neuromuscular disease, characterized by the degeneration of lower motor neurons in the spinal cord and brainstem, which leads to weakness and muscle atrophy. SMA currently represents the most common genetic cause of infant death. SMA is caused by the lack of survival motor neuron (SMN) protein due to mutations, which are often deletions, in the SMN1 gene. In the absence of treatments able to modify the disease course, a considerable burden falls on patients and their families...
2018: Therapeutic Advances in Neurological Disorders
https://www.readbyqxmd.com/read/29422644/advances-in-therapy-for-spinal-muscular-atrophy-promises-and-challenges
#3
REVIEW
Ewout J N Groen, Kevin Talbot, Thomas H Gillingwater
Spinal muscular atrophy (SMA) is a devastating motor neuron disease that predominantly affects children and represents the most common cause of hereditary infant mortality. The condition results from deleterious variants in SMN1, which lead to depletion of the survival motor neuron protein (SMN). Now, 20 years after the discovery of this genetic defect, a major milestone in SMA and motor neuron disease research has been reached with the approval of the first disease-modifying therapy for SMA by US and European authorities - the antisense oligonucleotide nusinersen...
February 9, 2018: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29411170/the-potential-of-antisense-oligonucleotide-therapies-for-inherited-childhood-lung-diseases
#4
REVIEW
Kelly M Martinovich, Nicole C Shaw, Anthony Kicic, André Schultz, Sue Fletcher, Steve D Wilton, Stephen M Stick
Antisense oligonucleotides are an emerging therapeutic option to treat diseases with known genetic origin. In the age of personalised medicines, antisense oligonucleotides can sometimes be designed to target and bypass or overcome a patient's genetic mutation, in particular those lesions that compromise normal pre-mRNA processing. Antisense oligonucleotides can alter gene expression through a variety of mechanisms as determined by the chemistry and antisense oligomer design. Through targeting the pre-mRNA, antisense oligonucleotides can alter splicing and induce a specific spliceoform or disrupt the reading frame, target an RNA transcript for degradation through RNaseH activation, block ribosome initiation of protein translation or disrupt miRNA function...
February 6, 2018: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/29380287/overview-of-current-drugs-and-molecules-in-development-for-spinal-muscular-atrophy-therapy
#5
Hannah K Shorrock, Thomas H Gillingwater, Ewout J N Groen
Spinal muscular atrophy (SMA) is a neurodegenerative disease primarily characterized by a loss of spinal motor neurons, leading to progressive paralysis and premature death in the most severe cases. SMA is caused by homozygous deletion of the survival motor neuron 1 (SMN1) gene, leading to low levels of SMN protein. However, a second SMN gene (SMN2) exists, which can be therapeutically targeted to increase SMN levels. This has recently led to the first disease-modifying therapy for SMA gaining formal approval from the US Food and Drug Administration (FDA) and European Medicines Agency (EMA)...
January 29, 2018: Drugs
https://www.readbyqxmd.com/read/29365350/transforaminal-lumbar-puncture-for-intrathecal-nusinersen-administration
#6
Anthony P Geraci, Karen Black, Michael Jin, Simcha Rimler, Adam Evans
No abstract text is available yet for this article.
January 24, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29228163/ethical-challenges-confronted-when-providing-nusinersen-treatment-for-spinal-muscular-atrophy
#7
Alyssa M Burgart, David Magnus, Holly K Tabor, Erin Daksha-Talati Paquette, Joel Frader, Jaqueline J Glover, Brian M Jackson, Charlotte H Harrison, David K Urion, Robert J Graham, John F Brandsema, Chris Feudtner
The US Food and Drug Administration's December 2016 approval of nusinersen for the treatment of patients with all subtypes of spinal muscular atrophy ushered in a new era for patients with spinal muscular atrophy, their families, and all those involved in their care. The extreme cost of the medication and the complicated logistical requirements for administering nusinersen via lumbar puncture have created practical challenges that raise important ethical considerations. We discuss 6 challenges faced at the institutional level in the United States: cost, limited evidence, informed consent, treatment allocation, fair distribution of responsibilities, and transparency with stakeholders...
February 1, 2018: JAMA Pediatrics
https://www.readbyqxmd.com/read/29228077/nusinersen-for-spinal-muscular-atrophy-are-we-paying-too-much-for-too-little
#8
Vinay Prasad
No abstract text is available yet for this article.
December 11, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/29208343/single-center-experience-with-intrathecal-administration-of-nusinersen-in-children-with-spinal-muscular-atrophy-type-1
#9
Astrid Pechmann, Thorsten Langer, Sabine Wider, Janbernd Kirschner
BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disorder mainly characterized by proximal muscle weakness. There have been enormous advances in therapeutic development with the possibility to influence the clinical course of the disease. Nusinersen is the first approved drug to treat SMA. It is administered intrathecally and acts as splicing modifier of the SMN2 gene. METHODS: Lumbar punctures were performed using a standardized protocol. To evaluate safety and feasibility of the intrathecal treatment, vital signs and the need for sedation, analgesia or mechanical ventilation during the procedure were monitored...
November 21, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29169204/newborn-genetic-screening-for-spinal-muscular-atrophy-in-the-uk-the-views-of-the-general-population
#10
Felicity K Boardman, Chloe Sadler, Philip J Young
BACKGROUND: Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder and a leading genetic cause of infant death worldwide. However, there is no routine screening program for SMA in the UK. Lack of treatments and the inability of screening tests to accurately predict disease severity are among the key reasons implementation of screening has faltered in the UK. With the recent release of the first therapy for SMA (Nusinersen), calls are being made for a reconsideration of this stance; however, very little is known about the views of the general public...
November 23, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29132728/expanded-access-program-with-nusinersen-in-sma-type-i-in-italy-strengths-and-pitfalls-of-a-successful-experience
#11
EDITORIAL
Sonia Messina, Marika Pane, Valeria Sansone, Claudio Bruno, Michela Catteruccia, Giuseppe Vita, Concetta Palermo, Emilio Albamonte, Marina Pedemonte, Enrico Bertini, Luca Binetti, Eugenio Mercuri
No abstract text is available yet for this article.
September 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29130140/transforaminal-intrathecal-delivery-of-nusinersen-using-cone-beam-computed-tomography-for-children-with-spinal-muscular-atrophy-and-extensive-surgical-instrumentation-early-results-of-technical-success-and-safety
#12
John J Weaver, Niranjana Natarajan, Dennis W W Shaw, Susan D Apkon, Kevin S H Koo, Giri M Shivaram, Eric J Monroe
BACKGROUND: Nusinersen, the only treatment approved by the United States Food and Drug Administration for spinal muscular atrophy (SMA), is delivered intrathecally. Many children with SMA have extensive spinal instrumentation and deformities, often precluding the use of standard approaches for gaining intrathecal access. Furthermore the anatomical distortion that often occurs with rotoscoliosis can complicate the use of fluoroscopic guidance. Compared to fluoroscopy, CT affords superior guidance for complex needle placements...
November 13, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/29109789/nucleic-acid-based-theranostics-for-tackling-alzheimer-s-disease
#13
REVIEW
Madhuri Chakravarthy, Suxiang Chen, Peter R Dodd, Rakesh N Veedu
Nucleic acid-based technologies have received significant interest in recent years as novel theranostic strategies for various diseases. The approval by the United States Food and Drug Administration (FDA) of Nusinersen, an antisense oligonucleotide drug, for the treatment of spinal muscular dystrophy highlights the potential of nucleic acids to treat neurological diseases, including Alzheimer's disease (AD). AD is a devastating neurodegenerative disease characterized by progressive impairment of cognitive function and behavior...
2017: Theranostics
https://www.readbyqxmd.com/read/29105153/making-sense-of-antisense-oligonucleotides-a-narrative-review
#14
REVIEW
Neelam Goyal, Pushpa Narayanaswami
Synthetic nucleic acid sequences that bind to ribonucleic acid (RNA) through Watson-Crick base pairing are known as antisense oligonucleotides (ASOs) because they are complementary to "sense strand" nucleic acids. ASOs bind to selected sequences of RNA and regulate the expression of genes by several mechanisms depending on their chemical properties and targets. They can be used to restore deficient protein expression, reduce the expression of a toxic protein, modify functional effects of proteins, or reduce toxicity of mutant proteins...
March 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29091570/nusinersen-versus-sham-control-in-infantile-onset-spinal-muscular-atrophy
#15
RANDOMIZED CONTROLLED TRIAL
Richard S Finkel, Eugenio Mercuri, Basil T Darras, Anne M Connolly, Nancy L Kuntz, Janbernd Kirschner, Claudia A Chiriboga, Kayoko Saito, Laurent Servais, Eduardo Tizzano, Haluk Topaloglu, Már Tulinius, Jacqueline Montes, Allan M Glanzman, Kathie Bishop, Z John Zhong, Sarah Gheuens, C Frank Bennett, Eugene Schneider, Wildon Farwell, Darryl C De Vivo
BACKGROUND: Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that is caused by an insufficient level of survival motor neuron (SMN) protein. Nusinersen is an antisense oligonucleotide drug that modifies pre-messenger RNA splicing of the SMN2 gene and thus promotes increased production of full-length SMN protein. METHODS: We conducted a randomized, double-blind, sham-controlled, phase 3 efficacy and safety trial of nusinersen in infants with spinal muscular atrophy...
November 2, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/29079012/a-historical-and-current-review-of-newborn-screening-for-neuromuscular-disorders-from-around-the-world-lessons-for-the-united-states
#16
REVIEW
Lainie Friedman Ross, Angus John Clarke
BACKGROUND: We aimed to review the history of newborn screening for three neuromuscular disorders (Duchenne muscular dystrophy, Pompe disease, and spinal muscular atrophy [SMA]) to determine best practices. METHODS: The history of newborn screening for Duchenne muscular dystrophy began in 1975 with the measurement of creatinine kinase on newborn male blood spots from two Midwestern hospitals in the United States. Over the next 40 years, ten programs were implemented around the globe although none currently remain...
December 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29067661/designing-effective-antisense-oligonucleotides-for-exon-skipping
#17
Takenori Shimo, Rika Maruyama, Toshifumi Yokota
During the past 10 years, antisense oligonucleotide-mediated exon skipping and splice modulation have proven to be powerful tools for correction of mRNA splicing in genetic diseases. In 2016, the US Food and Drug Administration (FDA)-approved Exondys 51 (eteplirsen) and Spinraza (nusinersen), the first exon skipping and exon inclusion drugs, to treat patients with Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA), respectively. The exon skipping of DMD mRNA aims to restore the disrupted reading frame using antisense oligonucleotides (AONs), allowing the production of truncated but partly functional dystrophin proteins, and slow down the progression of the disease...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29034834/challenges-and-advances-in-gene-therapy-approaches-for-neurodegenerative-disorders
#18
Aneesh Donde, Philip C Wong, Liam L Chen
INTRODUCTION: The recent approval of Spinraza (nusinersen), an antisense oligonucleotide, by U.S. Food and Drug Administration to treat patients with spinal muscular atrophy, has reignited interests of researchers in designing and testing new gene therapy approaches to treat neurological disorders, in particular, to curb neurodegenerative diseases of the central nervous system which represent an everincreasing public health burden to today's society. CONCLUSION: This review highlights several key factors to be taken into consideration to design successful preclinical and clinical gene therapy experiments with respect to the vehicle of delivery and the route of administration to CNS-specific targets, with an additional focus on antisense oligonucleotide therapy and recent clinical trial developments...
October 13, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/29020560/expanded-access-for-nusinersen-in-patients-with-spinal-muscular-atropy-negotiating-limited-data-limited-alternative-treatments-and-limited-hospital-resources
#19
Benjamin S Wilfond, Christian Morales, Holly A Taylor
No abstract text is available yet for this article.
October 2017: American Journal of Bioethics: AJOB
https://www.readbyqxmd.com/read/29020544/is-there-a-right-to-try-experimental-therapies-ethical-criteria-for-selecting-patients-with-spinal-muscular-atrophy-to-receive-nusinersen-in-an-expanded-access-program
#20
Nancy S Jecker
No abstract text is available yet for this article.
October 2017: American Journal of Bioethics: AJOB
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