One-Person trial hopes to slow rare nerve disorder

This study tests a custom-made drug designed for one person with Charcot-Marie-Tooth disease type 2D, a rare genetic nerve condition that causes muscle weakness. The drug, called an antisense oligonucleotide, aims to correct the effects of a specific GARS1 gene mutation. The single participant will be followed for up to two years to see if fine and gross motor skills improve or stabilize. Because this is an early-stage, one-person trial, results will be very limited and may not apply to others.