PTC258

PTC258 is an **orally active, brain-penetrant small molecule splicing modulator** that selectively increases the inclusion of exon 20 in the pre-mRNA of the *ELP1* (elongator complex protein 1) gene, thereby increasing functional ELP1 protein expression. Reduced ELP1 protein due to aberrant splicing causes familial dysautonomia (FD), a severe and fatal neurodegenerative disorder. PTC258 is a second-generation analog derived from optimization of the earlier splicing modulator, kinetin, and the intermediate BPN15477. Developed through a collaboration involving PTC Therapeutics, PTC258 demonstrates significantly higher potency and improved biodistribution compared to predecessors and has shown efficacy in animal models, correcting neurological defects and preventing disease phenotypes associated with FD[1][3][5][7][9][10].

Other names

PTC258PTC-258PTC 258CAS 2476724-74-8CAS2476724-74-8CAS-2476724-74-8