A baby born with a rare genetic disorder is thriving after receiving an experimental gene editing treatment tailored specifically for him, researchers say.
KJ Muldoon, from Clifton Heights, Pennsylvania, was diagnosed shortly after birth with CPS1 deficiency, a condition that impairs the body’s ability to remove toxic ammonia from the blood. Without treatment, half of affected infants do not survive.
Doctors at Children’s Hospital of Philadelphia and Penn Medicine developed a personalized therapy using CRISPR base editing, which corrects a single faulty DNA letter without cutting the strand, reducing risks of unintended changes.
KJ received his first infusion in February, followed by two more doses, and has since improved—eating more normally and requiring less medication.
“This is the first step towards the use of gene editing therapies to treat a wide variety of rare genetic disorders,” said Dr. Kiran Musunuru, co-author of the study published in the New England Journal of Medicine.
While researchers caution it is early, KJ’s progress offers hope for millions with rare diseases currently lacking effective treatments.