A Data Sharing Service for the Studies of the IAHCRC International Consortium on the Rare Diseases of the ATP1A3 Gene
The IAHCRC-CLOUD Platform is a ten years project started on September 2017, coordinated by the IAHCRC Data Manager Dr. Rosaria Vavassori and carried by the Informatics Team of the Euro Mediterranean Institute of Science and Technology (Palermo, Italy), a member Center of the IAHCRC Consortium. 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.
- Patient Associations for Alternating Hemiplegia of Childhood: Cure AHC – USA www.cureahc.org; AHC Association of Iceland - Iceland www.ahc.is; AHCUK – Great Britain www.ahcuk.org; AHC Vereniging Nederland - Holland www.ahckids.nl; AFHA - France www.afha.org; AESHA - Spain www.aesha.org;
- Euromediterranean Institute of Science and Technology (IEMEST) - Italy www.iemest.eu.
- Further co-funders would be desirable to ensure the sustainability of the Service (hosting, maintenance and development of new features) in the medium and long term.
Implement an International Platform for the data collection and sharing for the collaborative studies of the Clinical and Basic Research Centers belonging to the IAHCRC Consortium, involved in research and treatment of the rare neurological diseases caused by mutations in the ATP1A3 gene (Alternating Hemiplegia of Childhood – AHC; Rapid Onset Dystonia and Parkinsonism – RDP; CAPOS Syndrome). Implement the international network of national Disease Registries (Node Databases), in which the centers of a national IAHCRC Node, as well as their patients, can collect and keep their data securely for their own, private use (for example for the clinical practice), and share them for any IAHCRC Study seved by the Platform in which they freely decide to participate.
The data collected in the Platform are managed in full compliance with the rules defined in the Charter of the IAHCRC Consortium, based on international ethical standards and national and international regulations on data privacy and security. Thanks to the implemented workflow, based on principles and methods of platform cooperativism and patient engagement, data can be collected in the Platform and shared in an ethical and informed way by all actors involved in the biomedical research process (clinicians, patients and basic researchers, scientific and academic institutions, and in perspective pharma and profit organizations).
In particular, data can be re-used safely and effectively for an indefinite number of studies and projects carried out by the Centers of the IAHCRC Consortium, in collaboration with patient associations and other external, public and private bodies, at both international and national levels. They can also be made accessible for larger-scale projects, always based on data sharing policies jointly-agreed by the Assembly of the IAHCRC member Centers and the patient representatives of the AHCIA International Alliance.
CURRENT AND EXPECTED RESULTS
In the short term, the Platform is serving the data collection for the OBSERV-AHC Study (Prospective Observational Natural History and Therapy Study on AHC), which has been launched in the third trimester 2018 and will last for five years, with the Scientific Coordination of the Neurology Clinic at the Duke University (Durham, NC USA).
Other IAHCRC Studies currently served by the Platform are the study of sleep in AHC (EEG-AHC Study, coordinated by the National Institute of Neurology and Neurosurgery, University College of London, UK), the study of the role of AHC genotype in cardiac repolarization (QTc-AHC Study, coordinated by the Division of Pediatric Cardiology, at the Duke University, Durham, NC USA), the study of phenotypes correlated to rare variants in ATP1A3 (VARIA-ATP1A3 Study, coordinated by the Great Ormond Street Children Hospital, University College of London, UK), the study of efficacy of ketogenic diet in AHC (KETO-AHC Study, coordinated by the Department of Neurology, Hospital Sant Joan de Deu, Barcelona, Spain).
A Video Library has been implemented, as an OBSERV-AHC sub-project, containing the videos uploaded personally by the patients' caretakers and reviewed by a group of international experts, to classify the paroxysmal episodes characteristic of the ATP1A3 diseases and the other movement disorders associated. This video library can also be used for educational and training purposes by the members of the IAHCRC Consortium, upon authorization of the Scientific Coordinators and always with the informed consent of the patients. The E-DIARY Project has been developed, also as an OBSERV-AHC sub-project, consisting of Event Diaries hosted on the Platform in which caretakers record the patients' AHC episodes using a web app on their mobile phones and personal computers. The VideoLibrary and the E-Diary Project have been published on the European Journal of Pediatric Neurology, August 2023.
Along with the data already produced by the past IAHCRC studies, which have been imported into the Platform, together with the data produced by the OBSERV-AHC Study and the current and future IAHCRC studies, the Platform can eventually develop in a knowledge base, usable for larger-scale studies on all ATP1A3 diseases: genotype-phenotype correlations, natural history, clinical trials for new candidate compounds, quality of life. This knowledge base may also be used to develop Guidelines for the Assistance to the Patients, and for other purposes of dissemination and professional and academic training.
Basic Research and Clinical Centers member of the IAHCRC Consortium; Patient Associations of the International Alliance AHCIA.
ACTIVITIES AT IEMEST
The IEMEST Institute coordinates the whole project and develops the software application, using the development tool “RedCap© Electronic Data Capture Tool”. The Institute is also providing the hosting and maintenance of the Platform, and is in charge of the data management, upon appointment of Assembly of the IAHCRC member Centers.
last update 28 August 2023