APRIL 2022

6 APRIL 2022 
A NEW STUDY ON THE ATP1A3-RELATED DISEASES HAS BEEN LAUNCHED INSIDE THE IAHCRC CONSORTIUM

We are now delighted to announce the launch of the new IAHCRC Study VARIA-ATP1A3, led by Dr Katharina Vezyroglou, at the University College of London - Great Ormond Street Children Hospital, UK.
According to Dr. Vezyroglou:

... VARIA-ATP1A3 is a new study spearheaded by the IAHCRC Consortium with which we are trying to expand our knowledge of the rarer ATP1A3 variants by using an online survey to collect the phenotypic characteristics of patients carrying them. To do this as effectively as possible we are currently setting up a large network of collaborators from all around the globe and we are happy to hear from all colleagues interested in participation. ....
If successful, this study will help doctors and researchers give families a more accurate prognosis early on and support patients with appropriate therapies. The knowledge we gain might help us diagnose patients with atypical AHC earlier. Finally, having a registry of patients carrying rarer variants might be valuable for future research into better understanding ATP1A3 protein function, as well as for clinical application of precision medicine approaches as they become available.

The complete description of the VARIA-ATP1A3 Study by Dr. Vezyroglou is available at this link 

 

             

DECEMBER 2021

22 December 2021 
THE INFORMATION LEAFLETS AND THE PATIENT JOURNEY FOR AHC HAVE BEEN PUBLISHED ON THE EPICARE WEBSITE

The news of the publication of the leaflet and patient journey for AHC has been included in the newsletter of EpiCARE-ERN, the European Reference Network for Rare and Complex Epilepsies.
The information leaflet, for healthcare professionals and for patients and caregivers, and the patient journey are developed for each rare and complex epilepsy represented in the network, as a joint project of the experts and managers of EpiCARE-ERN together with the patient advocates of the ePAG group.
We thank them all for creating such great and useful documents to raise awareness on AHC and develop a better healthcare for all patients!
Many thanks in particular to our Data Manager Dr. Rosaria Vavassori and Katherine Behl, vice-president of AHC UK - Alternating Hemiplegia of Childhood UK for writing the text, and to Dr. Eleni Panagiotakaki and Dr. Maria Papadopoulou, at the University Hospital of Lyon, France for their scientific review.

The information leaflet and the patient journey for AHC can be downloaded from the EpiCARE website at this link link

 

OCTOBER 2020

12 OCTOBER 2020 
AN ARTICLE ON AHC PUBLISHED IN RARE REVOLUTION MAGAZINE  

Read the article on AHC published in the Autumn 2020 edition of Rare Revolution Magazine entirely dedicated to rare and complex epilepsies.
Written by Rosaria Vavassori, our Data Manager, and Katherine Behl, vice-president of AHC-UK, the AHC patient association in Great Britain; both their children are affected by AHC.
https://bit.ly/3jQI4Wr

             

NOVEMBER 2019

30 November 2019 
DATA COLLECTION STARTED FOR THE IAHCRC INTERNATIONAL STUDY OBSERV-AHC

Data collection for the OBSERV-AHC Study (a Study of the IAHCRC Consortium) started last September 1st, in Spain, France, UK and USA, supported by their national patient associations. In Italy, they are still waiting for the approval of their Ethics Committee, but they too are ready to start as soon as they obtain it.
Data will be collected and entered in the IAHCRC-CLOUD Platform by the data-entry clinicians during the neurological visits to the patients organized in collaboration with their supporting patient associations.
The caregivers of the enrolled patients are offered the possibility to record their AHC episodes directly in the IAHCRC-CLOUD Platform, through its Mobile App, so that also their data can be included in the Study.

	Prof. Mohamad Mikati presenting the OBSERV-AHC Study at the International Symposium on AHC organized by the Spanish Patient Association AESHA and the Reference Center for AHC at the San Juan de Deu Hospital in Barcelona, 9 February 2019		Prsentation of the OBSERV-AHC Study at the Family Meeting of the Italian Patient Association in Milan, March 2019
	Family Meeting for the start of the data collection for the OBSERV-AHC Study, organized by the Spanish Patient Association in Barcelona, September 2019		Family Meeting for the start of the data collection for the OBSERV-AHC Study, organized by the French Patient Association in Lyon, October 2019
	Working meeting organized on the occasion of the 8th Symposium on ATP1A3 in Disease (Reykjavik, Iceland, 3 October 2019), about the start of the data collection for the OBSERV-AHC Study. Standing, Prof. Mohamad Mikati, Scientific Coordinator of the Study; seated, the data-entry clinicians of the Centers participating in the Study, in France, Spain, Italy, UK and the United States.		The Mobile App through which a caretaker can record the patient's events in the IAHCRC-CLOUD Platform

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SEPTEMBER 2018

17 September 2018 
PRESS CONFERENCE FOR THE PRESENTATION OF THE PROJECT IAHCRC-CLOUD PLATFORM
a service for the international research on AHC and the ATP1A3 diseases

Tuesday October 30 2018, 3.30pm
I.E.ME.S.T. Institute www.iemest.eu
via Michele Miraglia, 20 – Palermo, Italy

Palermo, 17 September 2018
The President of the Euro-Mediterranean Institute of Science and Technology (I.E.ME.S.T.) Bartolomeo Sammartino communicates that on Tuesday October 30 2018, at 3.30pm, the press conference will take place at the headquarters of the Institute (via Michele Miraglia, 20 – IT Palermo), for the presentation of the Project “IAHCRC-CLOUD Platform”, aimed at establishing an international platform for the data collection and sharing serving the collaborative studies of the IAHCRC Consortium.
The technical and ethical aspects will be presented, as well as the innovative features of the IAHCRC-CLOUD Platform, making it a Second Generation Rare Disease Registry, implementing the principles and methods of patient engagement and platform cooperativism.
The current studies of the IAHCRC Consortium using the Platform will also be presented; among them, the longitudinal Study OBSERV-AHC, coordinated by the Division of Pediatric Neurology - AHC and Related Disorders Program of the Duke University in Durham, NC USA. In addition, some anticipations will be given on future developments already foreseen for the Platform, to make it an open, scalable and adaptable tool for any other rare disease.
Please confirm your participation via email to This email address is being protected from spambots. You need JavaScript enabled to view it. by Friday October 26 2018.