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First Personalized Gene Therapy Using Base Editing Shows Promising Results in Baby with Rare Disorder

  • A nine-and-a-half-month-old baby named KJ Muldoon from Pennsylvania received a personalized gene-editing therapy for severe CPS1 deficiency in early 2024.
  • KJ's life-threatening metabolic disorder caused toxic ammonia buildup, requiring strict medication and diet, but urgent treatment was needed to prevent brain damage or death.
  • Researchers rapidly developed a CRISPR-based therapy within seven months that corrected KJ's specific genetic mutation, gained expedited FDA approval, and administered multiple doses without safety concerns.
  • Following treatment, KJ tolerated increased protein intake, reduced medication, improved growth from the 9th percentile, and doctors plan hospital discharge while monitoring for possible future liver transplant.
  • Experts hailed this unprecedented case as a milestone for personalized gene therapies, offering hope for treating rare diseases despite future barriers and the need for further research.
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Nature broke the news in United Kingdom on Thursday, May 15, 2025.
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