Epilepsy Registries in Ireland
Adult Epilepsy Register in Ireland
The first Irish epilepsy register for genetic epilepsies has been developed at the FutureNeuro Research Centre, curated by RCSI. The Register is called the EAGER (Epilepsy-Associated Gene-Ready Register) Network.
The concept of the network is to bring together a comprehensive list of individuals (and families) with complex epilepsy with known causative genetic mutations. It is envisaged the register will be a link between individuals affected, families, support organisations and advocacy groups, clinicians, and biopharma to enable future precision medicine trials in individuals with particular mutations, e.g., SCN1A, SCN8A, DEPDC5, GRIN2A, MECP2.
We now know individuals diagnosed with genetic epilepsy may be amenable to precision or targeted therapies aimed at correcting the underlying molecular defect in the brain. National and international clinical networks of ‘trial ready’ individuals with confirmed genetic diagnoses will allow further investigation of the efficacy of new precision therapies, with new compounds and with gene therapies. We are aware of current clinical trials outside of Ireland using this technology for individuals with SCN1A mutation in Dravet Syndrome. The EAGER Network is an exciting development for our community to encourage future clinical trials in Ireland.
This adult register is being led by Professor Norman Delanty (Adult Epileptologist at Beaumont Hospital / RCSI) and the paediatric register by Dr. Susan Byrne (Consultant Paediatric Neurologist, Crumlin Children’s Hospital / RCSI). Ann Connolly (Research nurse) manages and curates the adult register database.
We are now open for enrolment to the register. If you or a family member would like to receive more information or discuss now to enrol, please contact Ann at connollyann@rcsi.com or call 0871501633
Paediatric Epilepsy Register in Ireland
CINDI is a registry for children with confirmed neurogenetic conditions who attend Children’s Health Ireland. If children and their families consent to inclusion their details are added. We do not add any names but rather give each participant a code. The CINDI registry enables us to identify children with a known neurogenetic condition, should a clinical trial, study or precision therapy become available. We have already matched children with clinical trials and research studies.
The CINDI register was funded by Children’s Health Ireland Seed funding and FutureNeuro.