A baby born with a rare, life-threatening genetic disorder is now growing and thriving, thanks to a first-of-its-kind experimental gene editing treatment developed specifically for him.
A Groundbreaking Approach to CPS1 Deficiency
KJ Muldoon, from Clifton Heights, Pennsylvania, was diagnosed shortly after birth with CPS1 deficiency, a rare condition affecting about one in a million babies. The disorder prevents the body from removing ammonia, causing toxic buildup in the blood. Typically, liver transplants are the only option, but KJ’s parents, Kyle and Nicole, chose to try an experimental therapy.
“We weighed all the options,” said Nicole. “After prayers, research, and consultations, we decided to go for the gene editing treatment.”
Custom Therapy in Record Time
Within six months, researchers at Children’s Hospital of Philadelphia and Penn Medicine used base editing, a more precise form of CRISPR, to correct the single-letter mutation in KJ’s DNA. Delivered via lipid nanoparticles, the treatment reached KJ’s liver cells without cutting the DNA, thus reducing the risk of errors.
In February, KJ received the first infusion. After follow-ups in March and April, his health began to improve—he ate better, required less medication, and overcame routine illnesses with greater ease.
Hope for the Future of Rare Diseases
As reported by CNN, though it’s early, researchers are optimistic. “Each small milestone—like rolling over—is a victory,” Nicole shared. Experts believe this case could open doors for personalized treatments for other rare genetic diseases.
Importantly, the therapy’s cost was comparable to a liver transplant, suggesting custom treatments could become more affordable over time. Researchers hope this breakthrough sets a precedent for future therapies. It could bring hope to the 350 million people living with rare diseases worldwide.