AHC in 2017 – Looking back….

The year started with a bang because on International AHC day 18th of January 2017 we will launch a new website dedicated to the documentary Human Timebombs The full film was made available in 10 languages on the site http://www.humantimebombs.com

It is our hope that by making Human Timebombs public the film will help families all over the world get more understanding from people in their community. We also hope that more children will get diagnosis because of the film and that we get more doctors and researchers interested in helping the AHC community find a treatment for this important disorder.

For the families however not much happened to make their life easier in 2017, no new treatments and no discoveries that make them hopeful that they will see a cure in the near future.
We cannot stop fighting though because if we do there will of course never be a treatment for our kids.
We will have to do better, push harder, get more funds and raise awareness so that people will understand how important AHC is, not just for us parents that live and breath this disorder every day but for the world.
The world has to understand the this disorder is the key to finding treatments for many more neurological conditions that will in the end help millions of people all over the world.

Let´s make 2018 OUR year and find a treatment that will improve quality of life for our AHC families.

HAPPY NEW YEAR

Sigurdur Holmar Johannesson
President
AHC Federation of Europe

http://www.ahcfe.eu

Here is a short list of what happened in 2017 for AHC, apart from these publications and events lots of fundraisers were held and new research programs were funded.

• In January the documentary Human Timebombs was released to the public on the website http://www.humantimebombs.com

• In February an article about Diagnosis and Treatment of Alternating Hemiplegia of Childhood was published in Springer: https://link.springer.com/article/10.1007/s11940-017-0444-7

• In April a summary from the International AHC task force was released in Neurology: http://ng.neurology.org/content/3/2/e139.full

• In May an article was released: A novel SLC2A1 mutation hemiplegic migraine with alternating hemiplegia of childhood
https://www.ncbi.nlm.nih.gov/pubmed?cmd=search&term=24824604

• In June it was announced that 4 AHC associations funded the INTERNATIONAL AHC REGISTRY
http://www.iahcrc.net/news.html

• Also in June
Sho Yano MD PhD and Kenneth Silver MD published this article:
Alternating Hemiplegia of Childhood: A Physicians’ Guide for Diagnosis http://www.raredr.com/news/ahc-guide-diagnosis

• in September the 6th Symposium on ATP1A3 in Disease took place at the Palace Hotel Tachikawa in Tokyo, Japan.

• 2018 Symposium on ATP1A3 in Disease will take place at the Northwestern University Medical Center, Chicago, Illinois USA on October 13th and 14th (Saturday to Sunday)

http://www.atp1a3disease.org

AHCFE is a member of Eurordis

AHC Federation of Europe is a member of Eurordis and volunteers as experts in two groups within Eurordis:

Drug Information, Transparency and Access task force (DITA)

 

The Drug Information, Transparency and Access (DITA) Task Force closely follows the work done by patients and consumers at the European Medicines Agency (EMA) and in the European Network of HTA agencies (EUnetHTA) in the areas of product information, transparency of the regulatory process and access to medicines.

There are 18 volunteer members of DITA, from EURORDIS member patient organisations, led and supported by EURORDIS staff members Francois Houÿez, Director of Treatment Information and Access, Health Policy Advisor and Anne-Mary Bodin, Operations Assistant.

DITA volunteers bring invaluable knowledge of their own rare disease and national health system. Many are patients themselves living with a rare disease.

DITA works and gives input into several EU projects that EURORDIS is involved in and that concern the rare disease patient community.

The task force meets twice yearly with regular telephone conferences and email correspondence to maintain the workflow.

https://www.eurordis.org/content/dita-task-force

AND

RD-Connect Joint Patient Advisory Council (RD-PAC)

RD-Connect is a global infrastructure that links –omics data with clinical data and available biomaterials to better understand rare diseases and ultimately lead to improved diagnostics and treatments. This infrastructure supports rare disease research worldwide, in particular research funded under the International Rare Diseases Research Consortium (IRDiRC) beginning with the EURenOmics and NeurOmics projects.

The importance and success of patient representation in rare disease research project governance has been demonstrated. A Joint Patient Advisory Council (RD-PAC) has been established by EURORDIS in the RD-Connect project (coordinating activities with the EUrenOmics and NeurOmics patient representatives) to inform all project coordinators and partners of issues important to patients and guaranteeing a patient-centric approach throughout project activities.

This group contributes the patient perspective to pragmatic solutions for the ethical, legal and social issues raised by –omics research as well as by the integration and sharing of research results and patient data. The RD-Connect, EUrenOmics and NeurOmics projects are navigating new research territory that requires capacity building and the RD-PAC also serves as a platform for education.

https://www.eurordis.org/content/rd-connect-volunteers

 

Four AHC associations fund international AHC patient registry

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