A baby named KJ Muldoon, born with a rare genetic disease called severe carbamoyl phosphate synthetase 1 (CPS1) deficiency, has shown remarkable progress after receiving personalized gene therapy. This groundbreaking treatment, tailored specifically to KJ’s condition, was developed in just seven months by a team of experts from the Children’s Hospital of Philadelphia (CHOP) and the University of Pennsylvania. KJ’s condition, which affects approximately one in a million babies, hampers ammonia removal from the body, leading to toxic buildup in the blood.
Following the administration of the experimental gene-editing treatment in February, KJ experienced significant improvements in his health. His ability to eat normally has increased, and he requires fewer medications. Notably, he has been recovering well from common illnesses like colds, which previously exacerbated his symptoms. KJ’s parents, Kyle and Nicole Muldoon, expressed gratitude for the positive impact of the treatment on their son’s well-being.
The researchers behind KJ’s personalized therapy utilized CRISPR, a Nobel Prize-winning gene editing tool, to correct the disease-causing mutation in his genes. Published in the New England Journal of Medicine, this study marks a crucial advancement in gene therapy for rare genetic disorders lacking definitive medical treatments. By sharing their findings promptly, the team aims to inspire similar innovative treatments for other genetic conditions, potentially revolutionizing the field of gene therapy in the coming years.
