GOSH leads Europe-wide epilepsy network that could speed up diagnosis for patients

Diagnosing different types of epilepsy and deciding on the best course of treatment could become a much faster process thanks to a newly formed European network, coordinated by Great Ormond Street Hospital.

The network, known as EpiCARE, will allow collaborative working across Europe and more access to innovative and highly-specialised diagnostics. This will mean faster and more accurate diagnoses for patients and hopefully better treatments. By doing this, the project aims to increase the number of seizure free patients over the next five years.

Helen Cross, Consultant in Paediatric Neurology at Great Ormond Street Hospital and network lead, says: “Creating strong links with experts across Europe via the EpiCARE network has the potential to substantially improve the lives of thousands of individuals with epilepsy.

“It provides a real possibility of offering precision medicine and targeted, more effective, treatments, such as epilepsy surgery, dietary treatments and immune therapies, to a greater number of patients.”

The EpiCARE network will run over a five-year period from 2017 to 2021, and is one of 23 projects funded by the European Commission, that allow professionals and centres of expertise in different countries to share knowledge and tackle rare diseases that require specialised care.

The European Research Network will, in the first instance, comprise of 28 recognised health care providers from across Europe. They will share information, experience, and knowledge via e-registries and in virtual multidisciplinary meetings. They will also work to increase accessibility of epilepsy surgery for carefully selected individuals.

Within the network, an ethics committee made up of advisors independent to the project will be formed to specifically advise on clinical trials, treatment outcomes, and genetic evaluation.

David Goldblatt, Director of Clinical Research and Development at Great Ormond Street Hospital says: “We are delighted that GOSH will lead the coordination of this epilepsy network. It will allow us to realise the potential of European cooperation in developing and offering highly specialised healthcare to patients across the UK and further afield and underlines the importance to British clinical academics of access to EU collaborations.”

Scarlett's story

GOSH patient Scarlett, 7, has vitamin B6-dependent epilepsy - a rare type of epilepsy. She received her full diagnosis after a GOSH research team discovered she had a faulty gene, ALDH7A1. Since commencing vitamin B6 treatment Scarlett’s seizures have stopped entirely. The newly formed EpiCARE stands to help children like Scarlett.

After she was born Scarlett started to have seizures several times a week. The fits were difficult to control and so severe that Scarlett was frequently admitted to hospital, with several admissions spent on intensive care. She was referred to GOSH due to the complexity of her condition. Without treatment the seizures were causing delays in Scarlett’s development.

When she was six-months-old, new genetic screening finally established a faulty gene was causing vitamin B6-dependent epilepsy. Scarlett’s father Ben explains: “Once doctors knew vitamin B6 could help, the transformation was immediate. The seizures stopped, and she hasn’t had a single fit in five years.”

“There were several times when we didn’t think Scarlett would make it, but she is now running around enjoying all the things a little girl her age should.”

Ben says: “Genetic research provided the answers for Scarlett. Without research collaborations, this breakthrough would not have been possible and Scarlett might not be here today.”