Why it matters
Epilepsy is a common neurological disorder affecting 1% of the population. There are over 30 types of epilepsies, some common and some rare. Most epilepsies arise in childhood and have a genetic cause. Approximately 40% of patients have the common forms of Genetic Generalised Epilepsy (GGE), and most prevalent GGE is Juvenile Myoclonic Epilepsy (JME). The goal of this study is to find the genetic cause for JME. We will do this by comparing the genetic code in JME patients with that in people who do not have epilepsy. To help us do this, we will use clues from their electroencephalograph (EEG) or brainwave test that is used to help diagnose epilepsy.
What we are doing
We are collecting genetic information through blood samples and EEG data from over 1000 people with JME across the UK, Europe and North America. This data will be used to find the genetic cause of JME. Finding the cause will help create better treatments for JME, as well as improve patient outcomes by allowing us to detect it earlier.
When will this study be recruiting?
This study will soon be recruiting participants across the UK, Europe and North America. A full list of recruiting centres will be listed here once recruitment begins.
What will participants be asked to do?
For this study participants will undergo a single blood test and may also do an EEG recording at the hospital (if they haven’t already had one done).
Who can take part?
Anyone who is currently 10 to 40 years old and who started to have symptoms of JME between the ages of 10 and 25 years old can take part.
Who is conducting the research?
Professor Deb Pal at King’s College London is the Chief Investigator of this study along with co-investigators Dr Lisa Strug (University of Toronto) and Professor Mark Richardson (King’s College London). There is also a large consortium of collaborating partners for this study:
- Dr Amedeo Bianchi (Lega Italiana contro l’Epilepssia)
- Dr Anna Smith (King’s College London)
- Professor Antony Marson (The Walton Centre)
- Professor David A Greenberg (Nationwide Children’s Hospital)
- Dr Eva Kumlien (Uppsala University Hospital)
- Dr Federico Zara (Lega Italiana contro l’Epilepssia)
- Professor Guido Rubboli (University of Copenhagen)
- Guiseppe Capovilla (Lega Italiana contro l’Epilepssia)
- Dr Inga Talvik (Tallinn Children’s Hospital)
- Dr Jeanette Koht (Oslo University Hospital)
- Dr Kaja Selmer (Oslo University Hospital)
- Dr Khalid Hamandi (Cardiff University)
- Professor Mark Rees (Swansea University)
- Dr Marte Syvertsen (Vestre Viken Hospital Trust)
- Professor Michalis Koutroumanidis (King’s College London)
- Dr Pasquale Striano (Lega Italiana contro l’Epilepssia)
- Dr Rhys Thomas (Cardiff University)
- Associate Professor Rikke Møller (Danish Epilepsy Centre)
- Professor Stéphane Auvin (University Robert Debré)
- Associate Professor Steven Wolf (Mount Sinai-Beth Israel Medical Center and St Luke’s – Roosevelt Hospital)
Who has reviewed this study?
This study is supported by the Canadian Institutes for Health Research and has been reviewed by scientific experts and the South Central – Oxford C Research Ethics Committee.
If you would like to find out more about this study, please contact the Study Manager, Rob McDowall, by email at firstname.lastname@example.org
Now recruiting at these UK sites:
Brighton and Sussex University Hospitals NHS Trust
County Durham and Darlington NHS Foundation Trust
Croydon Health Services NHS Trust
Dartford and Gravesham NHS Trust
East Kent Hospitals University NHS Foundation Trust
Hampshire Hospitals NHS Foundation Trust
Heart of England NHS Foundation Trust
King’s College Hospital NHS Foundation Trust
Leeds Teaching Hospitals NHS Trust
Portsmouth Hospitals NHS Trust
Royal Free London NHS Foundation Trust
Sheffield Teaching Hospitals NHS Foundation Trust
St George’s University Hospitals NHS Foundation Trust
The Royal Wolverhampton NHS Trust
Walsall Healthcare NHS Trust
West Suffolk NHS Foundation Trust