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.
283 Articles
283 Articles
Baby in the US becomes the first treated with personalized CRISPR Gene-Editing
In a groundbreaking advancement in genetic medicine, a baby in the United States has become the first person to be treated with a personalized CRISPR gene-editing therapy, marking a historic moment for science and the future of rare disease treatment. According to a report by ScienceAlert, the infant was born with a rare and deadly […]
How a custom-made gene therapy could save one baby's life
A baby born with a rare, life-threatening genetic disease is now thriving after receiving an experimental gene-editing treatment. He's one of the first to be successfully treated with a bespoke therapy targeting a tiny but deadly error in his DNA. His doctors hope the technology could one day help the estimated 350 million people worldwide with rare diseases.
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