The 8th Annual Symposium on ATP1A3 in Disease 2019 will take place 3 – 4 October 2019 at the beautiful and conveniently located Grand Hotel Reykjavík on Iceland.
The host this year is the AHC Association of Iceland supported by an organising committee that consist of European scientists that have been working on ATP1A3 related diseases for many years.
The ‘ATP1A3 Symposium in Disease’ is an important symposium that focuses on one of the key genes, the ATP1A3 gene that is essential for normal brain functioning. Mutations in the ATP1A3 gene has been linked to several neurological diseases, including Alternating Hemiplegia of Childhood (AHC). The ATP1A3 gene encodes the alpha(a)3 subunit isoform of the sodium pump, an ion pump that is present in all cells of the body and help cells to maintain correct ion balance, to support in-and outflux of molecules in the cell. In the brain, the a 3 isoform is specific to nerve cells, the neurons. In most neurons, the a 3 isoform helps to maintain the resting membrane potential and reset the ion gradient after an action potential. Doing this, the sodium pump uses energy from the cells and is the most energy-consuming ion pump in the brain. Therefore, it is not surprising that mutations that alter the function of such a vital pump, is associated with neurological diseases.
March 5, 2019 – Joint message from Cure AHC, AHC Foundation and Hope for Annabel:
To pick an analogy for this second AAV Project update, we would say that it is like preparing for space travel. We have the captain and crew, but before we start the countdown we need to make sure our rocket has a clear target, is thoroughly tested, and is fully loaded with fuel and supplies.
Since June 2018, Cure AHC, AHC Foundation and Hope for Annabel have been collaborating on a gene therapy effort using Adeno Associated Virus (AAV) as a system to deliver functioning ATP1A3 to compensate for the mutated ATP1A3 associated with AHC. This project will require many phases with several steps in each phase to eventually get to a clinical trial. We are just in the first phase of the AAV Project where we are developing a viral vector and testing its effects in mice.
In our last update on January 20th, we shared that the three foundations had funded over $225,000 of preliminary research and development in preparation for the experiments on mice scheduled to start on April 1st. We shared that this next step of mice experiments would cost approximately $500,000.
Our rocket is fueled: Due to the phenomenal fundraising efforts by families, friends and strangers, we are thrilled to share that the 3 foundations have $436,000 in the bank to dedicate to the next steps of the AAV Project! In addition, our international partners from France, Iceland, Ireland, Netherlands, Spain and the United Kingdom have pledged over $110,000 towards the AAV Project. We are absolutely in awe of the support of this AAV Project by the AHC community and beyond!
While we have been able to pool resources to meet and exceed the $500,000 goal for the mouse experiments, please don’t stop your fundraising efforts! The AAV Project is a multi-phased initiative. Our gene therapy project is already attractive to industry and institutions who are offering financial support, and the more we can raise as a community the more we can attract the right institutions and the right capital partners. The goal is to keep our therapy affordable or free for patients and families, and there is much more that we as a community will need to do and fund before we can accomplish that.
Redundancy plans, safety checks, and rocket-supplies: Our therapy is performing very well in initial experiments, but we have concluded that further testing is necessary before we launch our rocket-ship. We are determined to proceed carefully and methodically. Thoroughness is even more important than speed.
There are still two fundamental questions we need to answer before our rocket has “lift-off”: (1) can our rocket go far enough (biodistribution), and (2) is our payload potent enough (viral potency). As a result, we are doing another round of quality-control testing, and we are building the same set of viral vectors using a different production technique as a redundancy plan. To avoid lift-off too early, we need to make sure our therapy will deliver ATP1A3 to the right parts of the brain in exactly the right amounts. We estimate these additional tests will take approximately three months. In addition, the development of the mouse colony for experiments is also seeing some delays. We need the mice to breed quickly to create a large enough colony for our planned tests but breeding mice with AHC is challenging. The upside is that by doing our additional quality control testing, the mice colony will have time to grow as well.
We want to make sure that the families who have embraced this effort are not disheartened. Timeline delays are commonplace for meticulous scientists. We have a rocket-ship that is fully fueled, with a captain and a crew. Take-off is slightly delayed since we have chosen to implement additional tests. We feel an intense responsibility to be excellent stewards of your fundraising efforts to ensure we get the best therapeutic results for our kids.
Families and organizations wanting to support the AAV Project should feel comfortable directing fundraising efforts to one, two or all three of the foundations: Cure AHC, AHC Foundation or Hope for Annabel.
For questions about the AAV Project or specific fundraising efforts, please contact Jeff Wuchich (email@example.com), Lynn Egan (firstname.lastname@example.org) and Simon Frost (email@example.com).
AHC Associations from the Nederland’s, UK, Iceland and the international organisation Cure AHC have joined forces to fund the IAHCRC-CLOUD platform which will be operated by the International AHC Research Consortium in collaboration with patient driven AHC associations.
This project is headed by Rosaria Vavassori who is the IAHCRC Data Manager and will be crucial for new studies, trials and collecting of information for the international AHC community.
The IAHCRC-CLOUD platform will be developed by the IEMEST Institute
The IAHCRC International Consortium for the Research on AHC and other ATP1A3 related diseases was created officially on November 2014
The Consortium involves clinicians, geneticists and researchers working at University centres in Europe, USA and Australia; it works in close collaboration with health professionals and patients
IAHCRC-CLOUD Platform is an on-line platform that collects and hosts data from IAHCRC Centers and from external sources and shares them for the IAHCRC Studies and Projects. The registry is Accessible to Researchers, Clinicians and Patients