February 25, 2022:
Hello Team Cure KCNH1! First of all we wanted to thank you all again SO much for all the support over the past few months!! We have a couple of exciting updates to share, first off, the Encinitas Advocate just published a story about Tristan and our fundraising efforts:
Also, many of you had asked us to let you know when we received our 501(c)(3) status, and after months of waiting we finally heard back from the IRS and Cure KCNH1 Foundation is now an official nonprofit organization! Please explore and share our website to help spread awareness of KCNH1. All donations through the foundation website are 100% tax-deductible.
May 7, 2022:
Big news!!! Thanks to all of you and your generosity, we are making rapid progress toward developing treatments for Tristan and all the KCNH1 kids; we've already completed designs for the ASO (gene-expression therapy), and just this week we went under contract to have them screened. We also signed a contract with Rarebase, a company that is using computer modeling and AI to identify existing medications that could be repurposed to combat the toxic effects of KCNH1 mutations. Thank you all for your support, YOU are making this happen!!!
June 23, 2022:
Making progress!! We're lucky to live in one of the biggest biotech hubs in the world, which is incredibly helpful when you're trying to develop cutting-edge medical treatments. The company that's doing the research for our gene-expression therapy is located here in San Diego and invited us to come tour the lab, so this week we had the chance to see all of your generous donations at work! It was very cool to see the actual brain cells, which will soon be used to test our KCNH1 ASO treatment, growing in Petri dishes. We’ve already designed and manufactured 50 test ASOs (gene-expression/RNA therapies), now this lab is going to screen them for efficacy, and then the next step will be testing them on rats for safety. The iXCells team was wonderful, they‘re clearly very invested in this project and motivated to help Tristan and the other KCNH1 kids!
August 3, 2022:
After five trips to four different labs and two separate blood draws for Tristan over the past week, we finally were able to finish collecting the three samples for the various treatments/research projects we’re working on. One is to test the blood levels of the investigational medication he started in June (got those results yesterday and the levels are extremely low, which means we have plenty of room to increase the dose, yay!). Another is to provide a sample to the Northwestern University lab that is studying KCNH1 and potential treatments. And the last one is for a very fine-grain genetic analysis for the development of the gene-expression therapy (ASO) through the n-Lorem program. We're grateful for the super-nice phlebotomists at Rady Children's Hospital who waded through all the kits and vials and paperwork to get everything straight. Huge thanks to all of the doctors and organizations supporting us with these projects!!!
November 28, 2022:
Giving Tuesday marks the one-year anniversary of our first fundraising campaign. What a difference a year makes!! One year ago, we had a dream but NO clue how we were realistically going to achieve it. Then we launched our GoFundMe, and had an incredible response…it was one of the top GoFundMes in the country following Giving Tuesday, we had 900 donors and $50,000 in three days! Within a few more months, we had raised another $200,000 and started funding pivotal research. In the last six months, we have designed, manufactured, and screened a batch of antisense oligonucleotides (ASOs, or RNA therapies), and identified a couple of promising hits! We have also funded a repurposed drug screen, which identifies existing, approved medications that could be repurposed to help correct the potassium-channel overactivity caused by KCNH1 mutations. Just yesterday we got our list of results from the drug screen, and there are some very promising candidates! Over the summer, we started Tristan on a repurposed medication that had some amazing initial results; for two weeks, he was actually able to learn, it was incredible!!! In those magical weeks right after he went on the medication, he was learning significant new skills every single day, many of them things we had been working on for weeks or months in his therapies. Although unfortunately the positive effects didn’t last, it was extremely encouraging evidence that these types of treatments can really work! The research is progressing and we know that treatments are on the horizon, but we need you to help us get them across the finish line. Please invest in life-changing research today, and share with all your friends and family…together we will Cure KCNH1!!!