脊髄性筋萎縮症（SMA）診断・治療の現状と今後の期待

抄録

In spinal muscular atrophy, the nucleic acid drug nusinersen, the gene therapy drug onasemnogene abeparvovec, and the small molecule drug risdiplam have been approved as disease-modifying therapies (DMT) through international joint clinical trials in which Japan also participated, and clinical experience has been accumulated. Clinical trials of pre-symptomatic administration of all three types of DMT have been successful, and the realization of an early diagnosis and treatment system through publically funded newborn mass screening tests is close to being realized.