Desperately ill baby healed with personalized gene therapy, doctors say

A baby born with a rare and dangerous genetic disease is defying the odds and thriving after receiving a groundbreaking gene editing treatment designed specifically for him. The doctors who treated him described his case in a new study, highlighting the success of the experimental therapy in correcting a critical error in his genetic code that is fatal for many infants with the same condition.

The baby, KJ Muldoon, was diagnosed shortly after birth with severe CPS1 deficiency, a rare genetic disorder that affects around one in a million babies. Infants with CPS1 deficiency lack an enzyme needed to remove ammonia from the body, leading to toxic build-up in their blood. While a liver transplant is an option for some patients, KJ’s parents opted for the experimental gene editing therapy developed by a team at Children’s Hospital of Philadelphia and Penn Medicine.

Using the revolutionary CRISPR gene editing tool, the doctors were able to correct the faulty gene responsible for KJ’s condition. Instead of cutting the DNA strand, they employed a technique known as “base editing” to flip the mutated DNA base to the correct type, reducing the risk of unintended genetic changes. KJ received his first IV infusion of the therapy in February, followed by subsequent doses in March and April.

Since receiving the treatment, KJ has shown remarkable progress. He can now eat more normally and has recovered well from common illnesses like colds, which can exacerbate symptoms of CPS1 deficiency. At nine-and-a-half months old, he requires less medication and is reaching important developmental milestones, much to the delight of his parents.

While it is still early days, researchers are hopeful that KJ’s case will pave the way for similar personalized treatments for other rare genetic disorders. The cost of developing such therapies may be high, but the success of KJ’s treatment demonstrates that it is a viable option for patients with rare conditions. As technology advances and economies of scale come into play, the cost of gene editing therapies is expected to decrease, making them more accessible to a wider population.

The groundbreaking work done by the team at Children’s Hospital of Philadelphia and Penn Medicine not only offers hope to patients like KJ but also opens the door to advancements in the treatment of other rare diseases. By leveraging the lessons learned from KJ’s case, researchers can apply the same principles to develop customized therapies for a variety of genetic disorders, ultimately improving the lives of millions of individuals worldwide.

In conclusion, KJ Muldoon’s journey serves as a beacon of hope for the future of genetic medicine. With continued research and innovation, personalized gene editing therapies have the potential to revolutionize the treatment of rare genetic disorders, offering new possibilities for patients who have long been left behind.