Baby Becomes World’s 1st Gene-Editing Therapy

A Pennsylvania baby, KJ Muldoon born in August of 2024 with a rare, life-threatening genetic disorder, which usually kills nearly half the infants who are born with it, has become the world’s first patient to receive gene-editing therapy.

KJ was born with Carbamoyl Phosphate Synthetase 1 deficiency (CPS1) where, until now, the only effective treatment was undergoing a liver transplant. CPS1 lacks the enzyme needed to help with the removal of ammonia from the body, ultimately resulting in building up in the blood and becoming toxic. CPS1 is so rare; it only affects one in a million babies.

KJ’s doctors at the Children’s Hospital of Philadelphia and Penn Medicine suggested trying a technology, gene-editing therapy, CRISPR, designed to remedy the mutated gene.  KJ has gotten 3 treatments so far and he’s been able to eat normally, gain weight, recover from common colds, take less medication, and seems to be thriving and growing, although he’s not out of the woods yet and will have to be watched for years.

By - FZ