PTC258 is a specific and orally active splicing modulator of Elongator complex protein 1 gene (ELP1). PTC258 increases the expression of ELP1 in vitro and in vivo. PTC258 is well tolerated in mouse model.
PTC258 (0.01 nM-0.01 μM; 48 h) efficiently increases full-length ELP1 mRNA and protein in Familial Dysautonomia (FD) patient fibroblasts[1].
PTC258 (3-24 mg/kg; p.o.; once daily for 3 months) is well tolerated. It corrects the splicing of the ELP1 transcript and significantly increases the amount of functional protein in vivo in all tissues tested, including the brain in mouse model[1].