STUDIES OF THE CONSORTIUM
... Any study which has been approved by the Assembly and has been designed in compliance with the Questionnaires and according to the protocols of the Consortium, is considered a Study of the Consortium.
The member that proposed the Study is its Coordinator....
(from the IAHCRC Charter)
CURRENT STUDIES AND PROJECTS
At the end of 2011, the research groups of the European Genetic Consortium for AHC in France, Italy and Holland joined the research group at the Duke University in USA to carry out the first collaborative research that led to the finding of the specific AHC-causing mutations of the ATP1A3 gene in most of the 105 screened patients (Heinzen at al., Nature Genetics, July 2012). Three patient associations, in USA, France and Italy largely contributed to this research with their financial and logistical support.
In 2013 the Consortium launched the second collaborative study GPC-AHC, coordinated by Prof. Alexis Arzimanoglou and Doctor Eleni Panagiotakaki (University Hospitals of Lyon, France), aimed to identify possible correlations between the clinical phenotype associated with AHC and mutations in the ATP1A3 gene, with the goal to investigate whether different mutations can, in part, be responsible for the clinical heterogeneity observed in the disease.
The data were collected from the largest international cohort of AHC patients to date (155 patients), and the results of their analysis have been published in the Orphanet Journal of Rare Diseases (News, 01 October 2015).
The ECG-AHC Study of the heart disturbances in AHC, coordinated by Prof. Sanjay Sisodiya (University College of London, UK) and including 55 patients, has been published in the scientific journal BRAIN (Editorial Comment, 21 August 2015).
As a follow-up, a second Study ECG2-ATP1A3 of the heart disturbances in AHC and all the ATP1A3 diseases was launched in September 2015, by the team of neurologists and cardiologists at UCL, coordinated by Prof. Sanjay Sisodiya. The complete neurological, genetic and cardiological data from more than 120 patients have been collected by the reference centers of ten countries in Europe, USA and Australia, and are currently under analysis.
The Study GEN2-AHC for the identification of the secondary gene(s) for AHC is still in progress, coordinated by Prof. Arn van den Maagdenberg (University Medical and Research Center of Leiden, The Netherlands) and by Prof. Erin Heinzen (IGM - Columbia University, New York, USA). Currently, more than 30 ATP1A3 negative patients have already been analyzed. Funds are necessary to analyze more cases.
The Project IAHCRC-CLOUD Platform started last July 2017, coordinated by the IAHCRC Data Manager Dr. Rosaria Vavassori and carried by the Informatics Team of the I.E.ME.S.T. Institute for Science and Technology (Palermo, Italy). The Platform is a service for the secure collection, hosting and sharing of the data for all the Studies and Projects carried out by the IAHCRC Consortium.
The Study OBSERV-AHC, a Prospective Observational Natural History and Therapy Study on AHC, is currently in its pre-launch phase and will be definitively launched next September 2018 coordinated by Prof. Mohamad Mikati (Duke University, School of Medicine, Durham, NC, USA). The longitudinal data of about 100 patients are expected to be collected in the IAHCRC-CLOUD Platform by the centers of four IAHCRC Nodes, in USA, France, Italy and Spain.
Prof. Arn van den Maagdenberg presenting the research of the secondary gene in AHC
carried out by the genetics labs of the IAHCRC Consortium,
at the Third Symposium on ATP1A3 in disease (Lunteren, NL, 29 – 31 August 2014)