The Epilepsy-Associated Gene-Ready Register (EAGER)

A rare disease epilepsy register for genetic epilepsies is being developed at the Science Foundation Ireland (SFI) 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 register is being led by Professor Norman Delanty (Adult Epileptologist at Beaumont Hospital / RCSI) and Dr. Susan Byrne (Consultant Paediatric Neurologist, Crumlin Children’s Hospital / RCSI). Sarah-Jane Byrne, a recently appointed research nurse with FutureNeuro will manage and curate the register database. The EAGER Network is currently under development and we are awaiting a launch date.

Prof. Norman Delanty and Sarah Jane Byrne recently presented an introduction to the EAGER to parents at our Dravet Syndrome Ireland virtual evening talk. Any questions or feedback on the register is welcome and can be sent directly to Sarah Jane Byrne at sarahjbyrne@rcsi.ie