In a remarkable medical first, a baby boy named KJ Muldoon, born with a devastating rare genetic disease, is doing well after receiving a groundbreaking CRISPR-based therapy designed uniquely for him. This “therapy-for-one” marks a significant step in the world of personalized medicine.

KJ, now nearly ten months old, had a condition called CPS-1 deficiency, which meant his body couldn’t properly process protein, leading to toxic ammonia buildup in his blood. While a liver transplant is the standard cure, KJ was too young. Facing a high risk of brain damage or death, his doctors at Children’s Hospital of Philadelphia offered a pioneering solution.

An international team raced against the clock, developing a CRISPR base editing treatment in just six months to correct the specific genetic mutation in KJ’s DNA. Unlike other gene therapies designed for broader groups, this treatment was tailored exclusively to his genetic sequence.

After three doses, KJ is thriving. He can now eat age-appropriate amounts of protein, and his doctors are carefully reducing his medications. While physicians like Dr. Rebecca Ahrens-Nicklas caution that it’s “still really early days” and not yet termed a “cure,” the progress is undeniably hopeful. KJ’s mother, Nicole, even shared the joy of finding him sitting up by himself, a milestone they once feared might never happen.

This extraordinary case offers a beacon of hope for treating other ultra-rare genetic diseases. However, experts acknowledge the significant challenge ahead: figuring out how such highly individualized and typically expensive therapies can be made widely accessible. For now, baby KJ’s journey represents a tiny miracle and a giant leap for personalized genetic medicine.

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