Infant with Rare Genetic Disorder Becomes First to Receive Personalized CRISPR Gene Therapy

A groundbreaking gene-editing therapy has been successfully administered to an infant with a rare and fatal genetic condition, marking the first time a personalized CRISPR-based treatment has been used in a human patient. The rapid development and deployment of the therapy—completed in just six months—demonstrates the potential for precision medicine to address life-threatening conditions before irreversible damage occurs.

The patient was diagnosed shortly after birth with carbamoyl phosphate synthetase 1 (CPS1) deficiency, a rare disorder that disrupts the liver’s ability to process nitrogen from protein, causing toxic levels of ammonia in the body. Standard treatment includes a strict low-protein diet and eventual liver transplantation, but the risk of organ failure due to infections or stress remains high during the waiting period. The infant received a low dose of gene therapy at six months of age, followed by a higher dose, with early signs indicating that the treatment was having a positive effect.

Developed by researchers at the Children’s Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, the therapy used CRISPR gene editing to correct the specific mutation in the infant’s liver cells. The method targeted only somatic (non-reproductive) cells, meaning the changes will not be passed on genetically. Researchers noted improvements as the baby began to tolerate more protein and required less medication to manage ammonia levels. Even after experiencing illnesses that would normally be dangerous in such cases, the child showed resilience without serious complications.

This case is the first documented use of a personalized CRISPR-based therapy created for a single patient. The platform used allows for rapid customization, raising hopes that similar treatments could soon be developed for other rare genetic diseases. Funding was provided through multiple NIH programs, with additional support from CHOP’s Gene Therapy Frontier Program and several biotechnology companies contributing in-kind resources. The results were presented at the American Society of Gene & Cell Therapy Meeting and published in The New England Journal of Medicine.

Article by multiple RFHC contributors, based upon information from a press release issued by the National Institutes of Health (NIH).

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