難病の乳児が個別化遺伝子治療で初の成功(Infant with rare, incurable disease is first to successfully receive personalized gene therapy treatment)

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2025-05-15 アメリカ国立衛生研究所 (NIH)

米国NIH支援のもと、フィラデルフィア小児病院とペンシルベニア大学の研究チームが、致死性の希少遺伝病「CPS1欠損症」の乳児に世界初の個別化遺伝子編集治療を成功させた。この疾患は体内のアンモニア代謝ができず重篤な症状を引き起こす。研究ではDNAを切らずに変異塩基を修正するベースエディティング技術を使用し、脂質ナノ粒子を介して肝細胞に投与。治療後、乳児の症状が著しく改善され、希少疾患に対する新たな治療戦略の可能性を示した。

<関連情報>

希少遺伝病治療のための患者特異的in vivo遺伝子編集 Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease

Kiran Musunuru, M.D., Ph.D., Sarah A. Grandinette, B.S., Xiao Wang, Ph.D., Taylor R. Hudson, M.S., Kevin Briseno, B.S., Anne Marie Berry, M.S., Julia L. Hacker, M.S., +37 , and Rebecca C. Ahrens-Nicklas, M.D., Ph.D.
The New England Journal of Medicine  Published May 15, 2025
DOI:10.1056/NEJMoa2504747

Summary

Base editors can correct disease-causing genetic variants. After a neonate had received a diagnosis of severe carbamoyl-phosphate synthetase 1 deficiency, a disease with an estimated 50% mortality in early infancy, we immediately began to develop a customized lipid nanoparticle–delivered base-editing therapy. After regulatory approval had been obtained for the therapy, the patient received two infusions at approximately 7 and 8 months of age. In the 7 weeks after the initial infusion, the patient was able to receive an increased amount of dietary protein and a reduced dose of a nitrogen-scavenger medication to half the starting dose, without unacceptable adverse events and despite viral illnesses. No serious adverse events occurred. Longer follow-up is warranted to assess safety and efficacy. (Funded by the National Institutes of Health and others.)

医療・健康
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