New and developing therapies in spinal muscular atrophy. (September 2018)

• Record Type: Journal Article
• Authors: Kariyawasam, Didu; Carey, Kate A.; Jones, Kristi J.; Farrar, Michelle A.
• Is Part Of: Paediatric respiratory reviews. Volume 28(2018)
• Page Start: 3
• Page End: 10
• Publication Date: 2018-09
• Subjects: AAV Adeno associated virus -- ASO anti-sense oligonucleotide -- SMA spinal muscular atrophy -- SMN survival motor neuron; Spinal muscular atrophy -- Survival motor neuron -- Treatment -- Nusinersen -- Gene therapy; Pediatric respiratory diseases -- Periodicals; Respiratory organs -- Diseases -- Periodicals; Respiratory Tract Diseases -- Periodicals; Respiratory Therapy -- Periodicals; Child -- Periodicals; Appareil respiratoire -- Infections, chez l'enfant -- Périodiques; Appareil respiratoire -- Maladies, chez l'enfant -- Périodiques; 618.922
• DOI: 10.1016/j.prrv.2018.03.003
• Languages: English
• ISSNs: 1526-0542

Abstract

Abstract: Great progress has been made in the clinical translation of several therapeutic strategies for spinal muscular atrophy (SMA), including measures to selectively address Survival Motor Neuron (SMN) protein deficiency with SMN1 gene replacement or modulation of SMN2 encoded protein levels, as well as neuroprotective approaches and supporting muscle strength and function. This review highlights these novel therapies. This is particularly vital with the advent of the first disease modifying therapy, which has brought to the fore an array of questions surrounding who, how and when to treat, and stimulated challenges in resource limited healthcare systems to streamline access for those eligible for drug therapy. The overhaul of the landscape for all those involved in SMA extends to the design of further drug trials and the necessity of multidisciplinary supportive care to potentiate the effects of disease modifying medications. The impact of respiratory complications in SMA is central to management in the current era of emerging novel therapies. These fundamental changes in our knowledge and management approach to those with SMA are explored further in this review.