2025-05-15 アメリカ国立衛生研究所 (NIH)
<関連情報>
- https://www.nih.gov/news-events/news-releases/infant-rare-incurable-disease-first-successfully-receive-personalized-gene-therapy-treatment
- https://www.nejm.org/doi/full/10.1056/NEJMoa2504747
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.)
