WASHINGTON (dpa-AFX) - In a groundbreaking medical first, doctors have used a personalized gene-editing therapy to treat an infant suffering from a rare and deadly genetic disorder, offering new hope for patients with ultra-rare diseases.
KJ Muldoon, born in August 2024, was diagnosed with CPS1 deficiency, a severe metabolic disorder that prevents the body from breaking down protein, leading to dangerous ammonia buildup. Half of all infants with the condition die within the first week of life. Traditional treatments such as ammonia-lowering drugs offer only limited benefit, and liver transplants are delayed until the child is at least one year old-often too late to prevent lasting brain damage.
Faced with this urgency, researchers at the Children's Hospital of Philadelphia and the University of California, Berkeley, fast-tracked a customized CRISPR base-editing therapy designed specifically to fix KJ's unique genetic mutations.
The treatment was developed, tested, and approved in just six months, a process that typically takes years. With support from academic labs and biotech partners across the U.S. and Canada, the therapy was safely delivered to KJ's liver in three doses wrapped in lipid nanoparticles.
While long-term outcomes are still being monitored, early signs are promising. KJ now requires fewer medications, can tolerate more protein, and is hitting developmental milestones previously thought unreachable.
Scientists believe this 'n-of-1' success-named for the individualized nature of the treatment-could mark the beginning of a new era in genetic medicine, where custom therapies are designed and deployed in record time.
The case highlights the need for changes in drug development and regulatory frameworks to make such life-saving treatments accessible to more patients with rare, unaddressed genetic diseases.
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