3rd ATP1A3 Symposium Reflections

3rd ATP1A3 Symposium Reflections

Dear Families, Friends, and Supporters,

3rd a1Greetings from Cure AHC HQ. I am back from the 3rd ATP1A3 (AHC) Symposium in Lunteren, Netherlands. It was an excellent experience full of promise for the future. Some many things going on it is hard to know where to start, but I will endeavor to keep this report easy to understand and organized :).

The symposium was part of a larger conference covering research on Sodium and Potassium Ion Channels (of which ATP1A3 is one). The aim for doing this was to attract new researchers to focus on AHC and to exchange ideas that might help the current researchers accelerate their understandings about how to get closer to the Cure.

3rda2The event kicked off Friday with a dinner. It was good to see most of the registered attendees there. Most notably there were several people from the larger conference, so the Symposium achieved this one goal right from the start!

The dinner featured an interactive session hosted by the AHC International Alliance. I moderated the session with my colleague from the Italian Association Filippo Franchini. We posed several questions with some good discussion. Here are some of the points that came from the dinner:

  • Cannabinoid Oil –there is still debate amongst the scientific community as to the true benefit for treating seizures in this manner. General consensus for AHC is that with the current understanding of the biochemistry of the ATP1A3 mutation, it is unlikely this approach would help the hemiplegia or associated motor and cognitive issues. It might be useful potentially for those AHC Champions facing seizures, but best to wait on trials with other intractable epilepsies (Dravet Syndrome, Lenox-Gastaut) that are already underway, as results from those may help save time and money with any potential study for AHC.
  • Hemiplegia Resolves with Sleep- We posed the question to understand why episodes resolve with sleep and sleep issues in general. One Parent, AHC Association of Ireland http://www.ahci.ie President Tom O’Brien, noted that he can just cover his daughter’s eyes for about 30 seconds or so and the paralysis subsides.  ( The general consensus was because ATP1A3 usually comes into play during periods of rapid flux in sodium and potassium exchanges in brain cells (ie periods of heightened sensory input) that such approaches of removing stimuli might help as an approach prior to using medications to induce sleep.
  • Treatments for AHC Champions NOW and Prep for clinical trial- We raised the question what are the things we could be doing now based on the understanding of the physiology of ATP1A3. There was much discussion on this with the recommendation that AHC Parent Organizations should work with clinical experts in AHC and the families worldwide to put together a treatment protocol and build a database of caregivers. The Italians and the AHC Clinic at Duke have made some strides in this regard, and Dr. Hendrick Rosewich from Germany indicated that out of the workshop in the USA this past June the desire came to expand the working group to establish consensus for biomarkers and question methodology to begin the education process now in anticipation of finding candidate treatments in the next few years.

The general sessions of the Sympoisum on Saturday featured many presentations of preliminary findings not yet published. Unfortunately that means there is much that cannot be written here. In general the next steps in the process are progressing at a remarkable pace. There were some surprising findings in some of the studies aimed at gaining deeper understanding of how the ATP1A3 gene works normally and how the mutations give rise to AHC. These results provided some future direction for further study, and prompted some new questions as well.

Two other diseases (RDP & CAPOS Syndrome) also have mutations in ATP1A3. There were presentations on the similarities and differences in these disorders.

There was a presentation to address those who are diagnosed with AHC but have no detected ATP1A3 mutation. It stressed the importance of getting all of those together for further study. Several collaborative teams, including the team at Duke University are at work hunting for the 2nd AHC gene. Connecting with the Duke AHC Clinic is a good way to have your champion included!  http://bit.ly/DukeAHC

The AHC Documentary team was hard at work during the symposium conducting a number of interviews. Siggi has done a fantastic job of offering his perspective of the event here.


We were also blessed to have 2 AHC Champions join us: Małgorzata (Poland/Germany) & Indy (Netherlands). It was great for the researchers to meet them. They also got to see a trailer for the documentary and the International Alliance video.


It is important to note that this symposium series, and the depth and breadth of collaboration they have facilitated, is very remarkable and rare. It is a recipe for success and accelerated progress. That is why it is critical they continue. To that end, we are happy to announce that planning for the 4th Symposium on ATP1A3 is already underway. Next year will be in the USA at the Doubletree Bethesda Conference Center in Bethesda Maryland near Washington DC, and close to the NIH & FDA.  The core Organizing Committee is Mohamad Mikati, MD; David Goldstein, PhD; Erin Heinzen, PhD (all from Duke University); Tsveta   Schyns (of ENRAH), and myself. Stay tuned for more details!


Exciting times ahead. Time to get to work on MAJOR fundraising!





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