“Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease” (2025), by Kiran Musunuru et al. Genetics and Biochemistry research paper. Original abstract below, unchanged. No free PDF was found.

Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease

Kiran Musunuru, Sarah A. Grandinette, Xiao Wang et al. · May 15, 2025 · Genetics and Biochemistry

Abstract

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.).

Source page DOI: 10.1056/nejmoa2504747