筋萎縮性側索硬化症（ＡＬＳ）　新治療薬相次ぎ承認…「いずれ治療可能な病気になると信じている」
https://www.yomiuri.co.jp/yomidr/article/20250217-OYTET50005/
#yomidr_yomiuri #江村泰山 #知りたい #医療_健康_介護のニュース_解説 #梶龍児 #三保浩一郎 #ＡＬＳ #徳島大 #日本ＡＬＳ協会 #バイオジェン_ジャパン #ロゼバラミン #ＳＯＤ１ #クアルソディ #バイオジェン #yomiDr #ヨミドクター #読売新聞

Mutations in SOD1 gene can cause #familialALS in a process involving dissociation of the #SOD1 dimer. This study shows that a novel cyclic thiosulfinate cross-linker can stabilize the SOD1 dimer in vivo, with therapeutic implications for fALS #PLOSBiology https://plos.io/3UpT8yL

#FDA just approved Qalsody (tofersen) for #ALS with #SOD1 mutation (~2% of ALS cases), based on a ⬇️ of the #biomarker neurofilament (NFL) in the plasma.
🔹 ALS is a progressive neurodegenerative disorder, attacking nerve cells that control voluntary muscles (e.g., breathing)
🔹 Qalsody is given intrathecally (in the spine) with 3 initial doses at 14-day intervals and maintenance every 28 days
🔹 Most common side effects were pain, fatigue, joint pain, ⬆️ white blood cells in the CSF, and muscle pain