In a world first, a team from Children’s Hospital of Philadelphia and Penn Medicine has successfully treated a patient with a customized CRISPR gene-editing therapy.
The patient, KJ, was born with severe carbamoyl phosphate synthetase 1 deficiency. Standard treatment for the rare metabolic disease is a liver transplant, but patients like KJ, who are too young or medically unstable, are not eligible for these transplants.
Penn Medicine professor Kiran Musunuru, MD, PhD, and CHOP’s Rebecca Ahrens-Nicklas, MD, PhD, collaborated on an effort to design a unique therapy for KJ’s specific variant of CPS1. Within six months, they manufactured a base editing therapy administered to the liver to correct KJ’s faulty enzyme.
The therapy was delivered via lipid nanoparticles, according to the health systems.
After spending the first months of his life inside a hospital, KJ received the first dose of a genetically tailored CRISPR medicine in February when he was 6 months old. Since receiving follow-up doses of the experimental infusion therapy in March and April, KJ’s clinicians said he is doing well.
“While KJ will need to be monitored carefully for the rest of his life, our initial findings are quite promising,” Dr. Ahrens-Nicklas, director of CHOP’s gene therapy for inherited metabolic disorders frontier program, said in a statement. Findings were published May 15 in The New England Journal of Medicine.
