What it is
After a newborn was diagnosed with severe carbamoyl-phosphate synthetase 1 (CPS1) deficiency, a disorder carrying an estimated 50% mortality in early infancy, the team built a lipid-nanoparticle base-editing therapy targeting the child's specific mutation. Following regulatory approval, the patient received two infusions at roughly seven and eight months of age. Over the next seven weeks he tolerated more dietary protein and had his nitrogen-scavenger drug cut to half the starting dose, with no serious adverse events.
Why it matters
This is the first medicine designed, manufactured and dosed for a single patient's unique mutation, moving from diagnosis to treatment in about six months. It shows bespoke in vivo CRISPR base editing can be assembled on a clinical timescale for an ultra-rare variant no commercial drug would ever target. The approach is a template for the thousands of individually rare genetic diseases that share no common therapy.
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Filed underCRISPR, base editing, gene therapy, rare disease, personalized medicine