Скачать или смотреть A Breakthrough in Medicine: Personalized Gene Editing to Save KJ

Diagnosed with CPS1 deficiency, a rare urea cycle disorder, KJ was successfully treated with a first-of-its-kind personalized gene editing therapy developed by Children’s Hospital of Philadelphia and Penn Medicine.

Read about the breakthrough. https://www.chop.edu/centers-programs...

KJ was just 2 days old when a doctor at the Hospital of the University of Pennsylvania (Penn) noticed something was wrong. Though the baby seemed healthy at birth, he’d become unusually lethargic, wasn’t eating and struggled to maintain his temperature.

The doctor checked KJ’s blood ammonia level – which can be a marker for some metabolic diseases – and found it was extremely high. Doctors told KJ’s parents their son was very sick, but the best place for him was right next door at Children’s Hospital of Philadelphia (CHOP).

After a battery of tests and examinations at CHOP, KJ was diagnosed with CPS1 deficiency, a rare urea cycle disorder. Urea cycle disorders are genetic conditions caused by deficiencies in specific enzymes and lead to a toxic buildup of ammonia in the body. Left unchecked, the toxic accumulation can be fatal.

KJ was placed on dialysis to filter the ammonia out of this blood and stabilize his condition while clinicians considered long-term treatment. At the time, the only lifesaving treatment for CPS1 deficiency was a liver transplant, which is rare and often better suited to children who are older, larger and in better health.

But there was some hope. Before KJ was even born, a team of scientists at CHOP and the University of Pennsylvania (Penn) had begun researching how to use gene editing to create customized treatments for diseases like CPS1 deficiency.

Leading the group of researchers were Rebecca Ahrens-Nicklas, MD, PhD, a pediatric geneticist and research lab director in CHOP’s Metabolic Disease Program and Gene Therapy for Inherited Metabolic Disorder Program, and Kiran Musunuru, MD, PhD, MPH, ML, MRA, a cardiologist, geneticist and gene editor at Penn.

After months of research and successful results in the lab, as well as significant support from the National Institutes of Health and industry partners, the CHOP-Penn team developed a specialized therapy for KJ’s specific genetic disorder. The team offered the one-of-a-kind treatment to KJ’s family.

On Feb. 25, 2025, KJ became the first patient ever to receive a personalized gene editing drug for CPS1 deficiency. The drug was delivered by an infusion (in an IV line) and flowed into the bloodstream, traveling to the liver.

In the months that followed, KJ received two additional infusions. With each dose, KJ was better able to process the protein in his diet, improving his growth and development. He’s become more active, playful and engaged with his family and hospital staff who support him.

While there are still many unknowns for KJ, doctors are hopeful the personalized gene editing has worked. KJ’s family looks forward to the day when KJ can come home and make their family of six complete.