A personalized gene editing therapy successfully treated an infant with CPS1 deficiency, a rare metabolic disease causing ammonia buildup in the blood. This groundbreaking approach, developed in under a year, opens avenues for similar treatments for numerous metabolic disorders.
A personalized gene editing therapy was successfully used to treat an infant with CPS1 deficiency, a disease that causes ammonia buildup in the blood. The technology used creates an opportunity for the development of personalized treatments for other rare diseases. A personalized gene editing therapy was successfully used to treat an infant with CPS1 deficiency, a disease that causes ammonia buildup in the blood. The technology used creates an opportunity for the development of personalized treatments for other rare diseases. ... An infant born with a lethal metabolic disorder was cured with a groundbreaking approach that involved a personalized gene-editing therapy developed and administered in less than a year. The study’s authors anticipate that similar approaches could be developed for hundreds of other metabolic disorders affecting the liver. While this treatment was developed under emergency conditions, they believe “rapid deployment of patient-specific gene-editing therapies will become routine for many genetic diseases,” the authors wrote. The treatment developed by researchers at Penn used a CRISPR-based technology, which chemically cuts and modifies a patient’s genetic code. The first CRISPR-based therapy, Casgevy (exagamglogene autotemcel), was approved in December 2023 to treat patients with sickle cell disease and in January 2024 to treat patients with beta-thalassemia. Gene Therapy for Inherited Metabolic Disorders Frontier Program (GTIMD) at CHOP, in a
Original title: “Breakthrough Gene Therapy Saves Infant With Rare Metabolic Disease | Managed Healthcare Executive”