In 2025, KJ Muldoon was the first patient to be treated for a life-threatening genetic disorder with gene editing therapy. KJ received a diagnosis of severe carbamoyl-phosphate synthetase 1 deficiency (CPS1) as a neonate, and received treatment when he was 7 months old, under Expanded Access approval from the FDA. Because rare diseases such as CPS1 cannot be evaluated in traditional clinical trials, regulators are considering new pathways to approval for broader populations. However, as investigators scale up to n-of-few or larger trials, new ethical issues must be considered: What data should be shared to generate the most useful, generalizable knowledge? What expertise and manufacturing infrastructure is necessary to conduct these trials safely under immense time pressure? How can conflicts of interests be mitigated? What do families require to trust interventional genetic therapies? And how should balancing risks and benefits guide patient selection as more knowledge about safety and effectiveness is gained?.
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