A baby named KJ Muldoon, who was born with a rare genetic disease called CPS1 deficiency, has shown remarkable improvement after receiving an experimental gene editing treatment tailored specifically for him. CPS1 deficiency affects roughly 1 in a million infants and inhibits the body’s ability to eliminate ammonia, which can lead to toxic buildup. As KJ’s parents, Kyle and Nicole Muldoon, faced a grim prognosis, they opted for the novel therapy rather than traditional invasive options like a liver transplant.
Researchers at the Children’s Hospital of Philadelphia and Penn Medicine created a custom treatment designed to correct the genetic malfunction using CRISPR technology, specifically a method known as “base editing.” This innovative approach flips the mutated DNA base to its correct form, minimizing the risk of unintended genetic alterations.
KJ received his first dose in February 2023 through an IV infusion using lipid nanoparticles, which deliver the therapy directly into liver cells. Since the treatment, KJ has improved significantly; he is eating normally, recovering from minor illnesses more easily, and requires less medication. His development milestones are notable given his earlier prognosis, although researchers emphasize that long-term studies will be essential to fully understand the treatment’s impact.
This pioneering case of gene therapy highlights the potential for customized treatments to address rare genetic disorders, typically less prioritized due to their low prevalence. Financially, creating tailored therapies does not need to be excessively costly, and advancements in this field may pave the way for similar strategies for other rare conditions in the coming years.
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