On May 18th 2024 we held our first CACNA1E Family Meeting in München, Germany.

Guests of honor were Dr. Lerche and Dr. Lauerer-Braun from the University Hospital of Tübingen, and Henning Steinhagen and Tom Otis (both online) from Lariot Pharmaceuticals.

We got to know each other, made friends, exchanged ideas.

A drug that is being tested specifically for our children was presented and prospects for a drug trial in the near future were discussed.

We agree that this meeting was just the beginning of our work. We will spread awareness about CACNA1E worldwide, build relationships with other organizations and show anyone who wants to know what everyday life is like for our children with such a serious rare disease. And how important it is that there is a targeted drug for this.

Question & Answers on a future treatment study with a drug specialized on CACNA1E mutations:

Q: Is the medication taken only once or daily?

A: It will be a daily medication.

Q: Do I have to come to Germany for the drug study or can I test it in my country?

A: You will be able to test it in your country in your treating hospital if your treating doctor cooperates well with the study doctor.

Q: Who can try it first?

A: Those whose treating physicians work well with the study physicians and are easily accessible will likely be able to test the (future) drug quickly.

Q: What can you expect from the medicine?

A: Of course, that's what they want to find out with the treatment study. But it is expected that it will prevent epileptic seizures very easily and that this could pave the way for development. It has already been shown in laboratory tests that it significantly reduces excitability.

Addition July 2024: The medication has been tested on stem cells of all variants who are supposed to be "gain-of-function" and it has shown that it works on all of them!

Für besonderen Einsatz in der Freizeit zur Versorgung eines CACNA1E Kindes während des München-Aufenthalts mit Sauerstoff. DANKE!
For special commitment in your free time to provide oxygen to a CACNA1E child during the stay in Munich. THANKS!