Current advances in drug development in spinal muscular atrophy

被引:10
作者
Singh, Priyamvada [1 ,2 ,3 ]
Liew, Wendy K. M. [1 ,2 ]
Darras, Basil T. [1 ,2 ]
机构
[1] Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA
[2] Harvard Univ, Sch Med, Boston, MA 02115 USA
[3] St Vincent Hosp, Worcester, MA 01604 USA
关键词
clinical trials; current developments; spinal muscular atrophy; therapy; INCREASES SMN EXPRESSION; PLACEBO-CONTROLLED TRIAL; VALPROIC ACID INCREASES; FUNCTIONAL MOTOR SCALE; MOUSE MODEL; NEUROMUSCULAR-JUNCTIONS; PROTEIN-LEVELS; MESSENGER-RNA; DOUBLE-BLIND; STEM-CELLS;
D O I
10.1097/MOP.0b013e32836565ac
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Purpose of reviewSpinal muscular atrophy (SMA) is a pediatric neuromuscular condition characterized by progressive proximal muscle weakness. It is one of the most common genetic causes of infant mortality across different races and is caused by mutation of the survival of motor neuron 1 (SMN1) gene on chromosome 5q13.Recent findingsTo date, there have been many therapeutics developments for SMA targeting various potential pathways such as increasing SMN gene expression, enhancing SMN2 exon 7 inclusion, neuroprotection, cell replacement, and gene therapy.SummaryAlthough SMA remains an incurable disease to date, recent advances in the field of basic and translational research have enhanced our understanding of the pathogenesis of the disease and opened new possibilities for therapeutic intervention. This article reviews and highlights past and current translational research on SMA therapeutics.
引用
收藏
页码:682 / 688
页数:7
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