Infant Cured by First Personalized Gene Editing Therapy

Doctors at Children's Hospital of Philadelphia and Penn Medicine have made medical history by treating baby KJ, born with the rare and fatal metabolic disorder CPS1 deficiency, using a personalized CRISPR gene-editing therapy. The condition, which causes toxic ammonia buildup and affects about 1 in 1.3 million infants, is typically fatal without a liver transplant. Within six months of diagnosis, a multidisciplinary team developed a bespoke gene-editing therapy tailored to KJ's unique mutation and administered it in three infusions. Early results show significant improvements in KJ's liver function and overall health, offering hope for other patients with ultra-rare genetic disorders. This is the first time a fully customized gene-editing drug has been used for an individual, highlighting the potential for rapid, individualized treatments. While this success marks a major milestone, experts caution that economic and logistical hurdles remain for wider adoption.