Making Dravet Syndrome more visible with pioneering data collection
Lead researcher: Professor Sameer Zuberi
Partners: Paediatric Neurosciences Research Group, Royal Hospital for Children Glasgow | Epilepsy Research UK
We provided funding to the Paediatric Neurosciences Research Group, based at the Royal Hospital for Children Glasgow, to build and develop a research database on epilepsies that start in childhood.
One of the databases contains over 6,000 patients who have been referred for genetic testing because they have had epilepsy in childhood. Another includes more than 3,000 patients who have been referred for testing of the SCN1A gene.
As a result of this data collection and research conducted by Professor Zuberi's team, it was revealed that Dravet Syndrome is more common than previously thought, occurring in around 1 in every 15,000 live births in the UK (previously it was estimated at between 1 in 20,000 to 1 in 40,000).
In addition, the database has:
- found that there are more than 700 different variations (or mutations) in the SCN1A gene
- provided valuable data for projects linked to Dravet Syndrome and gene therapy research
- identified patients eligible for clinical trials of new medications for Dravet Syndrome
- supported a 10-year follow up study of a large group of children and adults with Dravet Syndrome to better understand the long-term outcomes of the condition
- provided evidence supporting the importance of genetic testing and early treatment to improve overall outcomes for people living with Dravet Syndrome
“Our database has allowed us to invite children with Dravet Syndrome from Scotland, Northern Ireland and the Republic of Ireland to participate in randomised control trials of cannabidiol and fenfluramine. We have even collaborated with colleagues in the US and Denmark to see if we can predict whether someone with a change in the SCN1A gene will develop Dravet Syndrome.”