Patient and Parent Perspectives on the Use of Nusinersen for Spinal Muscular Atrophy
At the end of 2016, the U.S. Food and Drug Administration (FDA) approved nusinersen for the treatment of spinal muscular atrophy (SMA).1 Because of the high threshold for FDA approval, an abundance of data on nusinersen and its physiological effects on SMA patients...
Spinal Muscular Atrophy and the Role of MicroRNA
Mutations in the survival motor neuron 1 gene (SMN1), which result in reduced expression and lower levels of the full-length SMN protein, are responsible for spinal muscular atrophy (SMA).1 Given the role that microRNAs (miRNAs) play in gene expression, it is perhaps...
Eosinophilic Oesophagitis in Spinal Muscular Atrophy
Though rare, spinal muscular atrophy (SMA) does sometimes co-occur with other rare conditions. Both SMA type 2 and eosinophilic oesophagitis (EoE) occur in approximately 0.16-4 per 10,000 people,1–4 but the conditions have also been simultaneously observed in...
Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy
Spinal muscular atrophy (SMA) that co-occurs with progressive myoclonic epilepsy (PME) is a rare inherited syndrome referred to as SMA-PME. It is caused by a mutation in the ASAH1 gene, which is a gene that encodes acid ceramidase.1 ASAH1 is located on chromosome 8,...Disease Modifying Therapies in Spinal Muscular Atrophy: Preclinical Products
The therapies that are being developed for spinal muscular atrophy (SMA) generally fall into two categories: those that aim to increase levels of survival motor neuron (SMN) protein and those that are SMN-independent.1 The therapies that aim to increase SMN protein...HCP — SMA News Today
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