Girl, 15, delighted because NHS made a life-changing drug available
Abbie Bolt, 15, from Minster in Kent, suffers from spinal muscular atrophy (SMA) and has to be hooked up to a machine throughout the night to help her breathe. Pictured with mother Mel.
This article is part of a Special Issue entitled: RNA structure and splicing regulation edited by Francisco Baralle, Ravindra Singh and Stefan Stamm.
AbstractPurpose of ReviewSpinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a mutation in theSMN1 gene. It is relatively common worldwide, affecting approximately 1 in 11,000 live births, and about 1 in every 54 individuals is a carrier. The FDA-approved nusinersen (Spinraza) in December 2016 and onasmenogene abeparvovec (Zolgensma) in May 2019 for treatment of SMA after clinical trials showed slowed progression, improved motor function, and improved survival in treated infants and children. This review is aimed at educating medical professionals to facilitate a better understanding of SMA genetics,...
Journal of Proteome ResearchDOI: 10.1021/acs.jproteome.9b00159
Discussion: Routine CSF cytology performed by experienced personnel represents an important and feasible tool for safety monitoring during treatment with intrathecally administered therapeutics. Analysis of leukocyte subpopulations did not raise safety concerns during nusinersen therapy. The potential significance of the unique phagocytic cells for disease course and treatment response needs to be further elucidated in the future.
Shane Philipps, 17 months, from Haddon Heights, New Jersey, was diagnosed at 10 months, with Spinal Muscular Atrophy, a disease which weakens the physical muscles.
Authors: Park JM, Nishio H, Shin JH, Park JS PMID: 31286713 [PubMed]
CONCLUSION: Gene therapies have the potential to significantly influence the course of neuromuscular diseases. First positive intermediate results have been published and the first treatment has recently been approved in the USA. Long-term data on sustained effects and toxicity of gene therapies are not yet available. These novel treatment options will present new challenges for the healthcare systems concerning diagnosis, treatment and reimbursement. PMID: 31286145 [PubMed - as supplied by publisher]
HP Abstract Over the last years, the experimental compound olesoxime, a mitochondria-targeting cholesterol derivative, has emerged as a promising drug candidate for neurodegenerative diseases. Numerous preclinical studies have successfully proved olesoxime's neuroprotective properties in cell and animal models of clinical conditions such as amyotrophic lateral sclerosis, Huntington disease, Parkinson disease, peripheral neuropathy and spinal muscular atrophy. The beneficial effects were attributed to olesoxime's potential impact on oxidative stress, mitochondrial permeability transition or cholesterol homoeostasi...
Cell Death &Disease, Published online: 04 July 2019; doi:10.1038/s41419-019-1727-6Reduced P53 levels ameliorate neuromuscular junction loss without affecting motor neuron pathology in a mouse model of spinal muscular atrophy
AbstractOnasemnogene abeparvovec (onasemnogene abeparvovec-xioi; formerly AVXS-101; ZOLGENSMA®) is an adeno-associated viral vector-based gene therapy designed to deliver a functional copy of the humansurvival motor neuron (SMN) gene to the motor neuron cells of patients with spinal muscular atrophy (SMA). It has been developed by AveXis, a Novartis company, and was approved in May 2019 in the USA for the treatment of paediatric patients aged