Presentation

The IAHCRC Consortium is a network of clinical centres, research labs and scientific organizations producing and collecting the patient data according to unique common formats, protocols and procedures, in order to share them for collaborative studies about AHC and the other ATP1A3 diseases.
Based on the results of such studies, it also produces public documentation to be used as guidelines and recommendations for the health and social care of the AHC and all the ATP1A3 patients.

The activities of the Consortium are organized in three levels:

  • the governance level, in charge to the Scientific Coordinator (currently Prof. Alexis Arzimanoglou) and to the Assembly of the members;
  • the management and standardization level, in charge to the data manager  and to the Standardization Workgroups (currently there are three Workgroups: genotyping, leaded by Prof. Arn van den Maagdenberg; phenotyping, leaded by Dr. Eleni Panagiotakaki; modeling, leaded by Prof. Mohamad Mikati)
  • the operation level, in charge  to the Clinical Centers and Research labs collecting the data and carrying out the studies of the Consortium.

A Clinical Centre in the Consortium is usually the Reference Centre for the care for AHC and/or other ATP1A3 diseases, at the national level; there can be more than one Reference Centre member of the Consortium in each country.
Node is a cluster of Clinical Centres and serving Labs that has in charge a single cohort of patients; it collects the patient data in its Node-Database that may also have a linked biobank.

 IAHCRC Organization

The IAHCRC Charter contains the rules for the work among all the member centers to carry out their collaborative studies, and in particular the rights and obligations of the members. It also describes the organizational structure of the Consortium, in terms of functional bodies and their mutual relationships. 

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Objectives & Mission

OBJECTIVES

The IAHCRC Consortium aims to accelerate clinical and basic science research in the field of AHC to improve the quality of life of the patients affected by the ATP1A3 diseases and of their families.
Its specific objectives are:

  1. Contribute actively to the collaborative study of the pathogenetic mechanisms of the ATP1A3 diseases and to the development of an effective treatment for all of them;
  2. Promote a better care for all the affected patients, by developing specific standards for the diagnosis and the management of the diseases and by disseminating the information;
  3. Define standard formats, protocols and procedures for the production, the assessment, the collection and the sharing of the information and data for the collaborative studies carried out by the members and for the dissemination of the information inside and outside the Consortium;
  4. Collaborate with the patient associations and any other non-scientific organization in the pursuing of the first three objectives.


MISSION

To actively involve in the IAHCRC network all the clinical centres, research labs and scientific organizations willing to contribute to the search for an effective treatment and better standards of care for all the patients affected by AHC and all the ATP1A3 diseases, also working in close collaboration with patient associations and related structures and Institutions.

 

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Members

MEMBERSHIP

All the Clinical Centres, Research laboratories and Scientific organizations in the world with active involvement in the research and in the care for AHC or for any other ATP1A3 diseases, and with an interest to be involved and work in collaboration with the other members, can be a member of the Consortium.

MEMBERS

IAHCRC-US Consortium, USA (Node US01)

  • Duke University, School of Medicine, Durham, NC, USA
    Division of Pediatric Neurology, Department of Neurobiology (Prof. Mohamad A Mikati, Node Coordinator)
  • Columbia University, New York City, NY, USA 
    Institute for Genomic Medicine, IGM (Erin L Heinzen; Prof. David B Goldstein)
 

IAHCRC-FR Consortium, France (Node FR01)

  • University Hospitals of Lyon, Centre de Recherche en Neurosciences de Lyon, France 
    Epilepsy, Sleep and Pediatric Neurophysiology Department, HFME, Centre National de la Recherche Scientifique, UMR 5292, INSERM U1028, Lyon, France (Prof. Alexis Arzimanoglou, Node Coordinator; Eleni Panagiotakaki)
    Genetics Department (Gaetan Lesca)
  • Institut National de la Santé et de la Recherche Médicale, Inserm U1127 & ICM, Paris, France 
    Centre de Recherche de l’Institut du Cerveau et de la Moelle (Sohpie Nicole)
  • University Hospital Robert Debré (AP-HP), Inserm U1141, Paris, France 
    Child Neurology Department (Stéphane Auvin, Domitille Gras, Odile Boespflug-Tanguy)
  • University Hospital Trouseau (AP-HP); Centre Neurogénétique Mouvements Anormaux de l’enfant à l’adulte, Paris, France 
    Service de Neuropédaitrie (Diane Doummar, Marie_Laure Moutard, Thierry Billette de Villemeur)
  • University Hospital Salpêtrière (AP-HP), Paris, France 
    Département des Maladies du Système Nerveux (Emmanuel Flamand-Roze, Isabelle An, Fanny Mochel)
  • University Hospital Necker-Enfants Malades (AP-HP), Paris, France 
    Department of Pediatric Neurology - Reference Center for Rare Epilepsies (Rima Nabbout, Nadia Bahi-Buisson)
  • University Hospital of Montpellier, Hôpital Gui de Chauliac, Montpellier, France 
    Child Neurology Department (François Rivier, Agathe Roubertie)
 
  • Leiden University Medical Centre, Leiden, Netherlands (Node NL01)
    Department of Human Genetics and Department of Neurology, (Prof. Arn van den Maagdenberg, Node Coordinator; Cacha Peeters-Scholte)
  • University College London, London, UK (Node UK01)
    Institute of Child Health (Prof. Helen Cross; Katharina Vezyroglou)
    Institute of Neurology (Prof. Sanjay Sisodiya, Node Coordinator; Simona Balestrini, Juan Kaski);
 

IAHCRC-IT Consortium, Italy (Node IT01)

  • Università Cattolica S. Cuore School of Medicine, Rome, Italy 
    Institute of Medical Genetics (Prof. Giovanni Neri, Prof. Fiorella Gurrieri, Danilo Tiziano)
  • G. Gaslini Scientific Institute and Hospital, University of Genoa, Genoa, Italy 
    Department of Child Neuropsychiatry, (Prof. Edvige Veneselli; Elisa De Grandis, Node Coordinator; Michela Stagnaro)
  • Institute of Neuroscience and Bellaria Hospital, Bologna Italy 
    Child Neurology Unit (Giuseppe Gobbi; Melania Giannotta)
  • Scientific Institute IRCCS Eugenio Medea, Bosisio Parini (LC), Italy 
    Laboratory of Molecular Biology (Mariateresa Bassi)
    Clinical Neurophysiology Unit (Claudio Zucca)
  • Bambino Gesù Children’s Hospital, Rome, Italy 
    Division of Neurology (Prof. Federico Vigevano; Alessandro Capuano; Massimiliano Valeriani)
  • National Neurological Institute C. Besta, Milan, Italy 
    Department of Child Neurology (Tiziana Granata; Nardo Nardocci; Francesca Ragona)
  • Euro-Mediterranean Institute of Science and Technology, Palermo, Italy
    (Prof. Bartolomeo Sammartino; Prof. Francesco Cappello; Prof. Giosuè lo Bosco)
 
  • Hospital Sant Joan de Déu, Barcelona University, Barcelona, Spain (Node ES01)
    Department of Child Neurology (Jaume Campistol; Carmen Fons)
  • University of Antwerp – CDE, Antwerp, Belgium (Node BE02)
    VIB DMG, Neurogenetics group (Prof. Peter De Jonghe; Sarah Weckhuysen )
  • University Hospitals Leuven, Leuven, Belgium (Node BE01)
    Child Neurology (Prof. Gunnar Buyse)
 

IAHCRC-CZ-SLO Consortium, Czech Republic and Slovakia (Node CZ01)

  • Charles Universtity, 1st Faculty of Medicine and General Teaching Hospital, Prague, Czech Republic 
    Department of Neurology and Center of Clinical Neurosciences (Sona Nevsimalova, Node Coordinator; David Kemlink)
  • Charles University, 2nd Faculty of Medicine and Motol Teaching Hospital, Prague, Czech Republic 
    Institute of Biology and Medical Genetics (Anna Krepelova)
  • Komenius University, Faculty of Medicine and Pediatric Teaching Hospital, Bratislava, Slovakia 
    Department of Pediatric Neurology (Pavol Sykora; Miriam Kolnikova)
 

IAHCRC-AU Consortium, Australia (Node AU01)

  • University of Melbourne, Austin Health, Melbourne, Australia
    Department of Paediatrics and Department of Medicine (Ingrid Sheffer, Node Coordinator)
  • The Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia
    Ion Channels & Disease Group, Epilepsy Division (Steven Petrou)
 

IAHCRC-GR Consortium, Greece (Node GR01)

  • Aristotle University of Thessaloniki, "Hippokratio" General Hospital, Thessaloniki, Greece
    1st Department of Paediatrics (Prof. Dimitrios Zafeiriou, Node Coordinator)
  • Children's Hospital of Athens "P. and A. Kyriaku", Athens, Greece
    Department of Neurology (Sotiria Mastrogianni)
  • National and Kapodistrian University of Athens, Agia Sofia Hospital, Athens, Greece
    1st Department of Pediatrics (Roser Pons)
 
  • Medical Faculty University of Belgrade, Serbia (Node RS01)
    Clinic for Child Neurology and Psychiatry (Vesna Brankovic, Node Coordinator; Prof. Nebojsa Jovic; Prof. Vedrana Milic Rasic; Ana Potic)
 
  • Children's Hospital of Fudan University, Shangai, China (Node CN01)
    Department of Pediatric Neurology (Prof. Yi Wang, Node Coordinator)
    Molecular Diagnostic Center (Bingbing Wu)
 
  • Clinical Centre Medical University of Gdańsk, Poland (Node PL01)
    Department of Developmental Neurology (Prof. Maria Mazurkiewicz-Bełdzińska, Node Coordinator; Agniescka Sawicka; Marta Zawadzka; Maria Szmuda)
 
  • Neurology Institute University of Mainz, Germany (Node DE01)
    Department of Movement Disorders and Neurostimulation (Prof. Sergiu Groppa, Node Coordinator; Holger Kuntze; Christian Dresel)
 
  • Hospital Sultan Ismail, Johor Bahru, Malaysia (Node MY01)
    Department of Pediatrics (Tajul Tajudin, Pediatric Neurology, Node Coordinator)
 
  • Hospital Clínico San Borja Arriarán - Universidad Austral de Chile (Node CL01)
    Department of Pediatric Neurology (Marina Gaínza-Lein, Node Coordinator; Mònica Troncoso, Department Chief)
 

 

Governance

GOVERNANCE, COORDINATION AND MANAGEMENT

The Assembly of the member centers deliberates about all the activities of the Consortium, and in particular about the new members to include and the new collaborative studies to carry out.
The Scientific Coordinator moderates the Assembly and is the representative of the Consortium towards the external parties. The Deputy Coordinator assists the Scientific Coordinator in his/her functions and fully upholds the role and tasks of the Scientific Coordinator in his/her absence or unavailability.
The Data Manager coordinates and manages all the activities of the different bodies of the Consortium, in particular the collection and keeping of the patient data and their sharing for the collaborative studies of the Consortium, and provides the technical and logistical support. The Data Manager can manage the project for the execution of a specific study, upon request of its coordinator.

All people in charge of the Coordination and Management of the IAHCRC Consortium offer their services on an entirely voluntary basis and receive no payments for their work. 

Current Scientific Coordinator: Prof. Mohamad Mikati, Division of Pediatric Neurology and Department of Neurobiology, Duke University, School of Medicine, Durham, NC, USA

Current Deputy Coordinator: Prof. Alexis Arzimanoglou, Epilepsy, Sleep and Pediatric Neurophysiology Dpt. University Hospitals of Lyon, France

Current Data Manager: Dr. Eng. Rosaria Vavassori, founder and past president of A.I.S.EA Onlus, Italy; Manager of the ENRAH Registry (2005-2009) and of the nEUroped Registry (since 2008).

 

globalalliance

Dr. Rosaria Vavassori, closing the
Second Symposium on ATP1A3 in Disease (Rome, 23 – 24 September 2013),
presents the global alliance of the researchers, the patients and all the stakeholders,
for the progress of the collaborative research and of the care of AHC presentation

 

Workgroups

STANDARDIZATION WORKGROUPS

The Standardization Workgroups develop the questionnaires and the protocols for the data assessment, collection and keeping of the patient data at the databases managed by the Nodes. They also develop standard methods and operating procedures for the execution of the studies in their own areas of competence.
The Workgroups also promote the launch and supervise the execution of studies by the Consortium in their own areas of competence, by providing the specific scientific counselling. As such,they work in close collaboration with the Scientific Coordinator of the Consortium.

CURRENT WORKGROUPS

WG1. Phenotyping – Leader: Dr. Eleni Panagiotakaki
WG2. Genotyping – Leader: Prof. Arn van den Maagdenberg
WG3. Modelling – Leader: Prof. Mohamad Mikati

 

mikati

Prof. Mohamad Mikati presenting findings from the mouse model of D801N mutation of ATP1A3 in AHC,
at the Third Symposium on ATP1A3 in disease (Lunteren, NL, 29 – 31 August 2014)

 

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