（3）脊髄筋萎縮症の原因遺伝子と疾患修飾治療薬の開発

抄録

Spinal muscular atrophy (SMA) is a lower motor neuron disease characterized by muscle atrophy and progressive muscle weakness due to the degeneration and loss of anterior horn cells of the spinal cord. For a long time, it was a disease that received only care in hospitals and at home as a disease without cure. SMA is caused by the deletion or mutation of the survival of motor neuron 1 (SMN1) gene, therefore only a small amount of functional full-length survival motor protein (SMN) protein is produced from the SMN2 gene. There are three disease-modifying therapies that increase the production of the SMN protein: nusinersen, a nucleic acid drug with an exon inclusion mechanism; risdipram, a small molecule-drug with a similar mechanism; and onasemnogene abeparvovec, an adeno-associated virus 9 vector containing the SMN gene. Each drug was listed on the national health insulance (NHI) drug price based on the success of global clinical trials in which the author acted as the principal investigator. With the development of these effective therapeutic agents, early diagnosis and early treatment are essential. By administering the drug before the symptoms appear, it is possible to suppress or reduce the symptoms of SMA, and newborn screening at a nationwide level is expected to realized.