Slaugenhuapt, Susan (Massachusetts General Hospital)
This technology includes the creation and use of compounds, including kinetin derivatives, that improve mRNA splicing in a cell for the treatment of disorders associated with misspliced mRNA, including familial dysautonomia (FD). FD, the best-known and most common member of a group of congenital sensory and autonomic neuropathies, affects neuronal development and is associated with progressive neuronal degeneration. This disease is caused by mutations in the splicing of intron 20 of the IKMKAP gene that results in a unique pattern of tissue-specific exon skipping.
Further clinical work with the mRNA splicing compounds may establish these therapeutics as definitive treatments for familial dysautonomia (FD).
There are no current treatments of familial dysautonomia (FD) and the kinetin derivatives described in this technology could be the first-in-class.