Our foundation’s main objective is to advance research that will result in effective treatments. We have teamed up with leading experts in the field and are pursuing both drug-repurposing and drug-development strategies. We are currently working with research partners who are developing pluripotent stem cell lines that will be used to screen existing and novel therapies for their efficacy in remediating the toxic effects of the KCNH1 mutation. Gain-of-function mutations are not appropriate for gene-replacement therapies, but KCNH1 is thought to be a good candidate for an antisense oligonucleotide (ASO) therapy, which aims to correct the mutation at the post-transcriptional level by modifying the mRNA. We are currently in the process of getting bids from contract research organizations for ASO design; a number of candidate ASOs will be designed and then screened for safety and efficacy, before being submitted to the FDA for trial approval. Meanwhile, an existing, FDA-approved medication has been identified as a promising candidate for drug-repurposing and is being screened in vitro to determine whether it can be used as a potassium-channel inhibitor to counteract the overactivity caused by KCNH1 gain-of-function mutations.
Please see our linked "KCNH1 Roadmap to a Cure" for a detailed overview of what is known about KCNH1 and the various strategies we are pursuing to develop treatments!