脊髄性筋萎縮症における治療の進歩と発症前診断・発症前治療

抄録

A few years ago, infant–onset SMA patients, who had to make the ultimate choice between spending a lifetime with a ventilator or not, are now treated with the nucleic acid drug, the gene therapy vector formulation, or the small molecule compound. The efficacy and safety of presymptomatic treatment have been recognized, and expectations for newborn screening as an early diagnosis are increasing. 95% of newborns born in the United States have undergone SMA newborn screening, and have been started as an extended newborn mass screening test in seven local governments in Japan. A new era is beginning in which people who are supposed to receive care become caregivers.