AUGUST 2021

31 August 2021 
A NEW ARTICLE ABOUT THE CARDIAC DISORDERS IN AHC HAS BEEN PUBLISHED

Another study about the heart disturbances associated to AHC, led by Dr. Andrew Landstrom and Dr. Mary Moya-Mendez at the Duke University, has been recently published on the Scientific Journal of the American Heart Association (JAHA).
As Dr. Landstrom explains, "the goal of this study was to determine whether patients with AHC may have a heart abnormality that explains why some patients with AHC die suddenly and unexpectedly. This study finds that patients with AHC, specifically those that have the D801N mutation in ATP1A3, often have an electrical abnormality of their hearts that causes the heart to reset faster than normal. In rare cases, this “short QT interval” may predispose patients with this D801N mutation to life-threatening arrhythmias, particularly during times of abnormally slow heart rates or when undergoing sedation".
Dr. Landstrom and Dr. Mendez are now leading the multicentre study inside the IAHCRC Consortium (QTc-AHC Study), to further determine the relationship between ATP1A3 genotype and shortened QTc and a predisposition to ventricular arrhythmias. This study also aims to develop recommendations for identifying and assessing patients with AHC who are "high risk" from a cardiac perspective.

The article on JAHA is published in open access and the full text is available at this 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.