In a global first, doctors in Philadelphia have used personalized CRISPR gene-editing to treat a baby with a life-threatening genetic disorder—marking a major milestone in the future of individualized medicine.
The patient is KJ Muldoon, a 9-month-old boy diagnosed shortly after birth with CPS1 deficiency, a rare and often fatal genetic condition that disrupts the body’s ability to eliminate toxic metabolic waste. “You Google ‘CPS1 deficiency,’ and it’s either fatality rate or liver transplant,” said his mother, Nicole Muldoon, in a video released by the Children’s Hospital of Philadelphia (CHOP), where KJ received his treatment.
Instead of undergoing a liver transplant, KJ became the first person in the world to be treated with a version of CRISPR designed specifically for him. The therapy, developed by CHOP and Penn Medicine, used gene-editing technology to directly target and repair his unique genetic mutation—something that had never been done before.
“Our child is sick,” said his father, Kyle Muldoon. “We either have to get a liver transplant or give him this medicine that’s never been given to anybody before, right?”
The treatment consisted of three infusions delivered to KJ’s liver, where the CRISPR system—essentially a set of molecular scissors—sought out and edited the faulty gene. “The drug is really designed only for KJ,” said Dr. Rebecca Ahrens-Nicklas, director of CHOP’s Gene Therapy for Inherited Metabolic Disorders program. “The genetic variants that he has are specific to him. It’s personalized medicine.”
According to the study published in the New England Journal of Medicine, KJ has responded well to the therapy. He’s now able to eat a higher-protein diet—something that was previously dangerous due to his condition—and he requires fewer medications. He’ll still need long-term monitoring, but doctors say early results are promising.
“While KJ will need to be monitored carefully for the rest of his life, our initial findings are quite encouraging,” Ahrens-Nicklas said in a statement. “We hope he is the first of many to benefit from a methodology that can be scaled to fit an individual patient’s needs.”
The case has sparked cautious optimism in the scientific community. “This is mind-blowing and we should all be very, very excited,” said Dr. Brian Brown, director of the Icahn Genomics Institute at Mount Sinai. “We are at day one of the future of how we are going to treat different diseases.”
KJ turns one in August. His mother says he’s laughing, gaining weight, and thriving.
The post Baby Given World-First CRISPR Gene-Editing Treatment appeared first on VICE.
