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In a groundbreaking medical first, doctors in the United States have successfully treated an infant with a severe genetic disorder using custom gene-editing therapy. The child, referred to as KJ, was diagnosed with CPS1 deficiency, a rare condition that drastically impacts ammonia processing and affects approximately one in 1.3 million individuals. Experts estimate that around half of those afflicted do not survive past infancy.
Specialists from the Children’s Hospital of Philadelphia and the University of Pennsylvania developed the therapy after KJ's diagnosis, implementing the complex process within six months. KJ received his first infusion in February, followed by two additional doses in March and April. According to Dr. Rebecca Ahrens-Nicklas, a senior physician involved in the treatment, KJ is currently thriving and has experienced an increased dietary tolerance and reduced medication needs.
Details of the treatment, which involves advanced base editing technology, were published in the New England Journal of Medicine. While the therapy shows promise, researchers emphasize the importance of ongoing monitoring for KJ's long-term health outcomes.