期刊
CURRENT OPINION IN NEUROLOGY
卷 35, 期 5, 页码 693-698出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/WCO.0000000000001102
关键词
clinical and basic research; new therapies; spinal muscular atrophy
资金
- Clinician Scientist Program of Ulm University - Charcot Stiftung
This review aims to summarize the major clinical and basic science achievements in the field of spinal muscular atrophy.
Purpose of review The development of new therapies has brought spinal muscular atrophy (SMA) into the spotlight. However, this was preceded by a long journey - from the first clinical description to the discovery of the genetic cause to molecular mechanisms of RNA and DNA technology. Recent findings Since 2016, the antisense oligonucleotide nusinersen has been (FDA) approved for the treatment of SMA, followed by the gene replacement therapy onasemnogene abeparvovec-xioi in 2019 and the small-molecule risdiplam in 2020. These drugs, all targeting upregulation of the SMN protein not only showed remarkable effects in clinical trials but also in real-world settings. SMA has been implemented in newborn screening in many countries around the world. SMN-independent strategies targeting skeletal muscle, for example, may play another therapeutic approach in the future. Summary This review aims to summarize the major clinical and basic science achievements in the field of SMA.
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