オマタ　タク   OMATA Taku   小俣　卓    所属   医学部 医学科（附属八千代医療センター）    職種   准教授
言語種別	英語
発表タイトル	Timeline to treatment for one case of spinal muscular atrophy detected at newborn screening
会議名	第65回日本小児神経学会学術集会
学会区分	全国規模の学会
発表形式	ポスター掲示
講演区分	一般
発表者・共同発表者	◎Omata Taku, Kawaguchi Risa, Yamaguchi Ryo, Fujimoto Ryo, Aoyama Hiromi, Murayama Kei
発表年月日	2023/05/25
開催地 （都市, 国名）	岡山県
開催期間	2023/05/24～2023/05/27
概要	【Introduction】 In addition to currently screened neonatal diseases, there are other diseases that require early detection and early treatment. We report on one positive case identified on optional screening by the Clinical & Research Association for Rare, Intractable Diseases (CReARID), and present the subsequent diagnosis and course of treatment. 【Case】 A 17-day-old infant was referred to our hospital after testing positive for spinal muscular atrophy (SMA) during newborn screening. Genetic testing and anti-AAV9 antibody testing were performed immediately, and relevant departments were simultaneously contacted to begin preparations for treatment. At 26 days of age, SMN1 deletion and three copies of SMN2 were confirmed. After explaining the results and treatment policy in detail to the parents, it was decided to administer onasemnogen. At 40 days, he was started on prednisolone. Onasemnogen was administered on the next day at 41 days. 【Discussion】 Prompt treatment is required for positive SMA cases. In particular, nusinersen can be administered earlier in cases with two copies, so administration of nusinersen prior to onasemnogen can also be considered. For three-copy cases, previous studies show that all cases treated following neonatal screening met age-appropriate developmental milestones. Therefore, prior administration of nusinersen was not performed in this case. The Japanese Society of Child Neurology is currently reviewing treatment guidelines.