Workpackage IV – Research
Research is an important component of EpiCARE. Various partners already participate in existing EU research networks; these include the ongoing NEMO (Treatment of NEonatal seizures with Medication Off-patent: evaluation of efficacy and safety of bumetanide) network on neonatal seizures that was FP7 funded to assess the role of bumetanide (grant agreement no. 241479); this network continues with further projects including Welcome funded AnSWer. Further, the FP7 project ‘DESIRE’ (Developmpent and Epilepsy – Strategies for Innovative Research to improve diagnosis, prevention and treatment in children with difficult to treat Epilepsy- grant agreement no. 602531), is now in its 3rd of 5 years duration. DESIRE studies complex and rare epileptic encephalopathies and has collected DNA and brain tissue samples, cohorts with rare syndromes, organized databases and clinical trials. The proposed clinical network EpiCARE utilising the database/registries will allow natural history studies of individual phenotypes (to include epidemiologic, phenotypic, genotypic, response to medication, natural history, comorbidity, long term outcome, existing treatments,, mortality) and determine further key areas of research priority to be addressed, as illustrated with Dravet syndrome (http://dravet.eu/ ). For those conditions whose genetic bases are still unknown, European registries will facilitate a coordinated effort for participation to worldwide consortia for genomic studies (for example Epi 25K, http://www.epgp.org/) This will facilitate applications to Horizon 2020 and E-rare calls and publications on even extremely rare disorders through manifestations of interest, following a data sharing policy we previously adopted in the Rare Epilepsy Syndromes (RES) consortium (http://epilepsygenetics.net/2013/07/03/reinventing-a-consortium-the-res-data-sharing-policy).
- To establish structured collaborations with existing European research projects on complex and rare epilepsies.
- To establish a European clinical database (REDCap) for complex and rare epilepsies.
- To promote national and EU registries
- To create a large patient cohort, formed by well defined clinical subsets of rare conditions with specific aetiologies, to promote Orphan drug development and aetiology based clinical trials.
- To publish relevant clinical research on even extremely rare and complex epilepsies through network data sharing policy
- D IV.1 Proposal for EpiCARE clinical database at month 8
- D IV.2 Report on rules for data exploitation at month 12
- D IV.3 Common data set for utilisation REDCap database month 18
- D IV.4 Comprehensive report on research activities at month 36
- D IV.5 Epidemiological review of individual diseases across Europe at month 60
- M 16 REDcap database available to all centers
Professor Renzo Guerrini
Azienda Ospedaliero-Universitaria A Meyer
Professor Renzo Guerrini