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12th Symposium on ATP1A3 in Disease (14 – 15 Nov 2024) Barcelona, Spain

12th Symposium on ATP1A3 in Disease

Welcome to the 12th Symposium on ATP1A3 in Disease, a scientific meeting that traces its roots back to the seminal discovery of the ATP1A3 mutations in Alternating Hemiplegia of Childhood (AHC).

The inaugural symposium in Brussels in 2012 marked the beginning of a profound scientific journey for the AHC and ATP1A3 community. It served as a pivotal moment where researchers, clinicians, patients, and advocates came together to embark on a collective quest to understand ATP1A3-related diseases. Since then, the symposium has become a beacon of collaboration, attracting diverse perspectives and expertise from around the world.

Join us on 14-15 November 2024, as we gather for the first time in Spain at the historic Espai Modernista Sant Pau in Barcelona. Against the backdrop of this vibrant city, we’ll continue to explore the complexities of ATP1A3, from gene mutations to potential treatments, in an atmosphere of collaboration and shared purpose.

From Rome to Tokyo, from Chicago to Barcelona, each meeting has added layers of insight and momentum to our collective efforts. As we prepare for this latest chapter, we look forward to welcoming you. Your involvement is crucial to our shared mission.

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Programme:

This will be a hybrid event discussing the progress in understanding the basic science, developments in translational science – from ongoing treatments, including gene-based and pharmacological and functional treatments, to clinical trials for mouse models and biomarkers – and what matters for families.

Here is a taster of the programme topics that will be covered during this two-day conference. The full programme schedule will be released in the coming weeks.

Barcelona ATP1A3 Symposium

 

To Register Click Here

More information can be found on the 12th Symposium on ATP1A3 in Disease website

14-15 November 2024, Barcelona. Spain 

Email: atp1a3.barcelona@aesha.org

AHCFE (Annual General Meeting) 3rd December 2024

Join our AHC Federation of Europe’s next Annual General Meeting (AGM).

Annual General Meeting Date:

3rd December 2024 (2100 – 2200 pm CET)

Link to the meeting –  (To be followed soon)

See you all.

Featured Image: Photo by Sincerely Media on Unsplash

 

AHC Song “One in a Million”

 

”One in a Million” AHC Song was written, sung and recorded by Elwin at the International AHC Symposium held in Edinburgh in October 2022.  Elwin is a board member of the Netherlands AHC Association and parent of AHC Champion Indy. This video is about his love for his daughter, and above all the insecurities and fears having and living with AHC entails.

Do leave a message or comment below and show your support

How to join Microsoft (MS) Teams for the AHCFE Annual General Meeting (AGM) 

How to join Microsoft (MS) Teams for the AHCFE Annual General Meeting (AGM) 

  1. Please use this link to join the Microsoft Teams meeting: https://tinyurl.com/4m96pcp5    
  2. Click on the link where it says ‘Click here to join the meeting’  
  3. You will then see this page below: 
  4. If you are already registered on Teams and have the application downloaded on your computer or smartphone if the Teams app doesn’t automatically start (it often will) then click ‘open your teams app’  
  5. If you haven’t used Teams before then we recommend you can select ‘continue on this browser’.  This will allow you to continue on this browser as a guest and you will not have to download the team’s app.   

The link will be live from 7.55 pm (Central European Time) on Saturday 5th November 2022 and the meeting starts at 8 pm CET.  

We look forward to seeing you on Saturday 5th November 2022 

AHC Federation of Europe Executive Committee   

AHCFE Ukraine Statement

AHCFE Ukraine Statement

Alternating Hemiplegia of Childhood Federation of Europe (AHCFE) is deeply saddened by the conflict in Ukraine.

Our thoughts are with all people of Ukraine, and we hope for a swift and peaceful end to this terrible situation.

We have been contacted by many AHC European groups concerned about any AHC families in Ukraine.  Through contacts, we have established there are two Ukrainian AHC families and we have been told they are currently safe.

We have offered to connect them with other AHC organisations and families in Europe should they need support.

© Clay Banks | Unsplash

Please leave a message or note of your support for the AHC Ukraine families. Thank you!

AHCFE Annual Meeting 2021

Minutes from the AHCFE annual meeting 6. November 2021
AHCFE annual meeting



Report from president

• There has been very low activity for AHCF in 2021
• 2 meetings with pharmaceutical companies wanting to do a trial and get participation from families.
• Keeping contact with Eurordis but no meetings this year
• A few meetings with various families around the world

Finance report:

Income 0
Cost 0

Bank account
Euro 1.976
Isk 37.972
Total Euro 2.229

AHC Association of Iceland pays for the AHCFE.EU website and has done so from 2013 as a donation towards the federation



Executive board

Sigurður Hólmar Jóhannesson – President and Treasurer
Tom O´Brian
Filippo Franchini
Albert Villamala

Albert wants to step down



Nominations toward joining the executive board

Nienke Lentze
Bridget Vranckx
Katherine Behl
Abhishek Behl

The proposed was agreed up on so the new members are

Other items

Katherine informed about Epicare information sheet for parents and for doctors
Patient journey – 4 leaflets

AHCIA needs to be re-booted as it has been laying low for a while

AHC is classed as a rare epilepsy syndrome

We are looking to get a grant fund for a meeting next – 10 year conference celebrating 10 year from the discovery on the gene
Any suggestions for this meeting are welcome – please email Katherine or Bridget before the 2nd of December

bridget.vranckx@aesha.org
katherine.behl@gmail.com

How do we share our data?
What are we going to get out of the cooperation?
What do we need to avoid?
Learn from mistakes others have made in the past?

We should be seeking advice from others who have been through this process before
Healthcare should be provided should there be any problems after the trial
We need a lot of information to put together to be able to navigate this as a group
The mission statement for the federation
Key goals

Tsveta – would be good to have an overview of how many families are in each country
And how many in total – to have on the website and update once a year
Enrah did this a few years back

AHCFE Facebook page – Update

We should set up a board meeting before the end of this month to start the work

– Minutes Sigurdur Holmar Johannesson

New gene therapy gives hope

Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3Mashl/+, Mouse Model of Alternating Hemiplegia of Childhood

Arsen S. Hunanyan, Boris Kantor, Ram S. Puranam, Courtney Elliott, Angela McCall, Justin Dhindsa, Promila Pagadala, Keri Wallace, Jordan Poe, Talha Gunduz, Aravind Asokan, Dwight D. Koeberl, Mai K. ElMallah, and Mohamad A. Mikati

Abstract

Alternating Hemiplegia of Childhood (AHC) is a devastating autosomal dominant disorder caused by ATP1A3 mutations, resulting in severe hemiplegia and dystonia spells, ataxia, debilitating disabilities, and premature death. Here, we determine the effects of delivering an extra copy of the normal gene in a mouse model carrying the most common mutation causing AHC in humans, the D801N mutation. We used an adeno-associated virus serotype 9 (AAV9) vector expressing the human ATP1A3 gene under the control of a human Synapsin promoter. We first demonstrated that intracerebroventricular (ICV) injection of this vector in wild-type mice on postnatal day 10 (P10) results in increases in ouabain-sensitive ATPase activity and in expression of reporter genes in targeted brain regions. We then tested this vector in mutant mice. Simultaneous intracisterna magna and bilateral ICV injections of this vector at P10 resulted, at P40, in reduction of inducible hemiplegia spells, improvement in balance beam test performance, and prolonged survival of treated mutant mice up to P70. Our study demonstrates, as a proof of concept, that gene therapy can induce favorable effects in a disease caused by a mutation of the gene of a protein that is, at the same time, an ATPase enzyme, a pump, and a signal transduction factor.

The 8th Annual Symposium on ATP1A3 in Disease

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.