BPN-36964

BPN-36964 is an orally bioavailable, small molecule splicing modulator being developed by Tikun Therapeutics, in collaboration with Massachusetts General Hospital, for the systemic treatment of familial dysautonomia (FD). Familial dysautonomia is an ultra-rare, progressive autosomal recessive neurodegenerative disorder caused by a point mutation in the ELP1 gene, leading to defective splicing of ELP1 mRNA (specifically the exclusion of exon 20) and a deficiency in functional ELP1 protein. BPN-36964 is designed to cross the blood-brain barrier and selectively increase the inclusion of ELP1 exon 20, thereby correcting the splicing defect, restoring ELP1 protein levels, and preventing progressive neuronal degeneration throughout the body. In January 2025, the US FDA granted Orphan Drug Designation and Rare Pediatric Disease Designation to BPN-36964.