Funded Research

Our foundation’s main objective is to advance research that will result in effective treatments as quickly as possible.  We have teamed up with leading experts in the field and are pursuing both drug-repurposing and drug-development strategies, as well as developing the tools necessary to test these treatments.

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Our Foundation's Work:

• Generating models

  • We have developed the first KCNH1 patient-derived iPSC line (available for order here), and connected our academic partners to the patient community to collect samples for the development of cell lines for several other variants​

  • We are currently generating GABAergic neurons and cortical organoids, and plan to use MEA (and/or other approaches) to identify a phenotype and then screen drug candidates

  • We have a knock-in KCNH1 mouse model under development at Jackson Labs which will be made available for order once complete

• Developing treatments

  • Step 1: Repurposed drugs

    • There are currently a couple of n-of-1 trials underway for a repurposed drug that is known to block Kv10.1​

    • Our foundation has funded a repurposed drug screen and identified several hits that downregulate KCNH1; these compounds will now be tested in patient-derived neurons to see if they rescue the phenotype

  • Step 2: Antisense Oligonucleotides

    • Our foundation has funded the design, manufacture, and screening of a batch of general-knockdown ASOs and identified a couple of promising hits, which will be tested in patient-derived neurons to see if they rescue the  phenotype

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  • ​Step 3: Gene editors​

    • Our long-term goal is to develop a gene-editing "cure" that can correct the one misplaced nucleotide that causes our children's disease. Gene-editing for the central nervous system is still a ways from the clinic, but we have funded a pilot base-editing project for the highly recurrent R357Q variant, and the preliminary results are extremely promising.

 

• Collecting patient data

  • We recently launched the first-ever international KCNH1 patient registry, and within the first three months had enrolled more than half of all known patient families.  Caregivers are asked to complete an extensive battery of validated surveys on health and development, symptoms and medications, communication, behavior, sleep, etc.  We are also recruiting for a digital natural history study through Invitae's Ciitizen platform, which gathers and analyzes electronic health records.  We have an enthusiastic team of researchers that are actively studying this data in order to define the natural history of KCNH1-Related Disorders.​

• Fostering collaboration among researchers and coalescing the patient community

  • Just a little over a year after creating our foundation, Cure KCNH1 Foundation hosted the first-ever conference focused on KCNH1 research, bringing together over 100 scientists, doctors, and patients/family members to share the latest information about the basic science, disease models, clinical presentation, and drug development efforts for KCNH1-Related Disorders (recorded sessions available here)​

  • Cure KCNH1 Foundation holds monthly research roundtables to facilitate collaboration and share learnings within the research community

• Raising awareness about KCNH1-Related Disorders, and advocating for increased funding for rare-disease research and drug development

  • Cure KCNH1 Foundation has attended numerous rare-disease conferences, as well as meetings with governmental agencies to advocate for increased funding for rare-disease research ​

  • Cure KCNH1 is a member of several rare-disease consortia (CombinedBrain, Rare Epilepsy Network, Global Genes Advocacy Alliance)

  • Our foundation has been featured in newspapers, magazines, on TV, and on an award-winning podcast

• Increasing access to genetic testing

  • Cure KCNH1 Foundation has partnered with Probably Genetic to offer free whole-exome sequencing to eligible individuals (with a history of pediatric epilepsy, developmental delay, etc) through our website​

  • Cure KCNH1 Foundation has participated in the development of the BeginNGS initiative, which is an effort to expand access to newborn whole genome sequencing

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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!

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