Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease
- N1C Moderator
- May 28
- 2 min read
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., Alvin Hsu, B.S., Rachel A. Silverstein, B.S., Logan T. Hille, Ph.D., Aysel N. Ogul, Nancy A. Robinson-Garvin, Ph.D., Juliana C. Small, Ph.D., Sarah McCague, M.S., Samantha M.Burke, B.S.N., Christina M. Wright, M.D., Ph.D., Sarah Bick, M.D., Venkata Indurthi, Ph.D., Shweta Sharma, M.S., MichaelJepperson, M.S., Christopher A. Vakulskas, Ph.D., Michael Collingwood, B.S., Katie Keogh, Ph.D., Ashley Jacobi, B.S., Morgan Sturgeon, Ph.D., Christian Brommel, M.S., Ellen Schmaljohn, Ph.D., Gavin Kurgan, Ph.D., Thomas Osborne, B.S., He Zhang, Ph.D., Kyle Kinney, Ph.D., Garrett Rettig, Ph.D., Christopher J. Barbosa, Ph.D., Sean C. Semple, Ph.D., Ying K. Tam, Ph.D., Cathleen Lutz, Ph.D., Lindsey A. George, M.D., Benjamin P. Kleinstiver, Ph.D., David R. Liu, Ph.D., Kim Ng, M.D., Sadik H. Kassim, Ph.D., Petros Giannikopoulos, M.D., Mohamad-Gabriel Alameh, Ph.D., Fyodor D. Urnov, Ph.D., and Rebecca C. Ahrens-Nicklas, M.D., Ph.D.
May 15, 2025
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.)
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