title: How far away is spinal muscular atrophy gene therapy?
abstract: Spinal muscular atrophy (SMA) is a devastating motor neuron disease primarily affecting children, for which there is currently no known disease-modifying therapy or cure. The identification of the disease gene, survival motor neuron, led to an expansion in SMA research and allowed the creation of numerous animal and cellular models. This led to a significant increase in our understanding of the pathophysiology of SMA, culminating in the development of multiple SMN-dependent and -independent therapies. Among the most exciting options, viral gene therapy has emerged as one leading candidate. A growing body of pre-clinical evidence suggests that administration of scAAV9 carrying an SMN transgene can be both efficacious and translationally viable. In this article, we briefly review the progress which has been made in the field, and provide a commentary on some of the challenges which remain.
authors.affiliation: a 1 Centre for Integrative Physiology, University of Edinburgh, EH8 9XD, Edinburgh, UK.
authors.forename: Thomas H
authors.initials: TH
authors.lastname: Gillingwater
authors.forename: Lyndsay M
authors.initials: LM
authors.lastname: Murray
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D015316:Genetic Therapy / Q000639:trends*; D006801:Humans; D009046:Motor Neurons / Q000502:physiology; D009134:Muscular Atrophy, Spinal / Q000628:therapy*; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics
chemical_list: D055533:Survival of Motor Neuron 1 Protein
keywords: AAV9; SMN; delivery route; gene therapy; spinal muscular atrophy; therapeutic time window