A baby born with a rare and deadly genetic disease is growing and thriving after receiving an experimental gene editing treatment made just for him. The child, KJ Muldoon of Pennsylvania, has severe CPS1 deficiency, which affects one in a million babies. This condition prevents the body from removing ammonia from the blood, leading to toxicity.
KJ’s parents were given several options, including a liver transplant or an experimental therapy using CRISPR gene editing technology. After praying and gathering information, they decided to try the new treatment. Within six months, a team created a custom therapy that corrected KJ’s faulty gene.
The therapy, known as “base editing,” reduces the risk of unintended genetic changes. It was delivered through tiny fatty droplets that are taken up by liver cells. After several follow-up doses, KJ has been able to eat more normally and recover well from illnesses. His mother said seeing him thrive is a big moment for her.
Researchers hope that this breakthrough will help other rare disease patients. While it may be expensive to develop, the cost of the custom treatment was comparable to an average liver transplant and related care. Scientists believe that as they improve their techniques, economies of scale will kick in, reducing costs.
This research opens the door to more advances in gene editing technology, which could treat other rare conditions. Experts predict that it won’t be long before similar treatments are available for others.
Source: https://www.nbcnews.com/health/health-news/pennsylvania-baby-first-receive-personalized-gene-therapy-rcna207100