Plain English Summary
Background and study aims
Epilepsy is a common neurological disorder affecting 1% of the population. There are over 30 types of epilepsy, some common, 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 the commonest GGE is “Juvenile Myoclonic Epilepsy” or JME. There is overwhelming evidence that JME is caused by changes in genetic code. These changes are likely to be found in more than just one gene and there may be more than one type of change. In order to find these changes we need to study a large number of people with JME and compare their genetic code with people who do not have epilepsy. Finding the causes of JME will lead to better understanding of its cause, new treatments, and tailoring of treatments according to a person's genetic make-up. The aim of this study is to find the genetic cause for JME by comparing the genetic code in JME patients with that in people who do not have epilepsy using clues from their electroencephalograph or brainwave test that is used to help diagnose epilepsy.
Who can participate?
Patients aged 10 to 25 years old who have a diagnosis of Juvenile Myoclonic Epilepsy.
What does the study involve?
Participants provide a single blood sample, along with permission to collect clinical data about their diagnosis and a copy of their clinical EEG.
What are the possible benefits and risks of participating?
There is no direct benefit or risk to the research participants but the results from this study may help other people with epilepsy or brain impairments in the future. Participants may experience discomfort when providing the blood samples.
Where is the study run from?
This study is being run by the King’s College London (UK) and takes place in different hospitals and clinics in Canada, Czech Republic, Denmark, Estonia, France, Italy, Norway, United Kingdom and United States of America.
When is the study starting and how long is it expected to run for?
July 2015 to June 2020
Who is funding the study?
Canadian Institutes of Health Research (Canada)
Who is the main contact?
1. Professor Deb Pal
2. Mr Rob McDowall
Trial website
Contact information
Type
Scientific
Primary contact
Prof Deb Pal
ORCID ID
http://orcid.org/0000-0003-2655-0564
Contact details
Maurice Wohl Clinical Neuroscience Institute
King's College London
125 Coldharbour Lane
London
SE5 9RX
United Kingdom
Type
Public
Additional contact
Mr Rob McDowall
ORCID ID
http://orcid.org/0000-0003-0585-5430
Contact details
Maurice Wohl Clinical Neuroscience Institute
King's College London
125 Coldharbour Lane
London
SE5 9RX
United Kingdom
+44 (0)20 7848 0608
robert.mcdowall@kcl.ac.uk
Additional identifiers
EudraCT number
ClinicalTrials.gov number
Protocol/serial number
CIHR ID: MOP-142405, IRAS Project ID: 199351
Study information
Scientific title
Biology of Juvenile Myoclonic Epilepsy
Acronym
BIOJUME
Study hypothesis
1. JME is associated with variation in GABAA receptor genes
2. JME is associated with molecular networks of ion-channels
3. Endophenotypes of JME will increase power to localise disease-associated genes
Ethics approval
South Central - Oxford C NHS Research Ethics Committee, 08/12/2016, ref:16/SC/0266
Study design
Observational cross sectional study
Primary study design
Observational
Secondary study design
Cross sectional study
Trial setting
Hospitals
Trial type
Screening
Patient information sheet
Not available in web format, please use the contact details to request a patient information sheet
Condition
People with a diagnosis of Juvenile Myoclonic Epilepsy
Intervention
Participation includes one visit for one blood draw per recruited patient. 10-20ml peripheral venous blood is taken from the antecubital fossa. The DNA from the blood sample is then extracted and resequenced for analysis.
Intervention type
Biological/Vaccine
Phase
Drug names
Primary outcome measures
Association between SNP marker and phenotype is measured using genomewide DNA markers at a single timepoint
Secondary outcome measures
Brain network ictogenicity is measured using quantitative EEG data at a single timepoint
Overall trial start date
01/07/2015
Overall trial end date
30/06/2020
Reason abandoned
Eligibility
Participant inclusion criteria
1. Diagnosis of Juvenile Myoclonic Epilepsy in accordance with Consensus criteria
2. Age of myoclonus onset 10-25 years
3. Seizures comprising predominant or exclusive early morning myoclonus of upper extremities
4. EEG interictal generalized spikes and/or polyspike and waves with normal background
5. Current age 10-40 years
Participant type
Patient
Age group
Mixed
Gender
Both
Target number of participants
1000
Participant exclusion criteria
1. Myoclonus only associated with carbamazepine or lamotrigine therapy
2. EEG showing predominant focal interictal epileptiform discharges or abnormal background
3. Any evidence of progressive or symptomatic myoclonus epilepsy or focal seizures
4. Global learning disability
5. Dysmorphic syndrome
6. Unable to provide informed consent
Recruitment start date
13/07/2017
Recruitment end date
31/03/2019
Locations
Countries of recruitment
Canada, Czech Republic, Denmark, Estonia, France, Italy, Norway, United Kingdom, United States of America
Trial participating centre
King's College Hospital
London
SE5 9RS
United Kingdom
Trial participating centre
St Thomas' Hospital
London
SE1 7EH
United Kingdom
Trial participating centre
Royal London Hospital
London
E1 1BB
United Kingdom
Trial participating centre
Walton Centre
Liverpool
L9 7LJ
United Kingdom
Trial participating centre
College of Medicine
Swansea
SA2 8PP
United Kingdom
Trial participating centre
Cardiff University
Cardiff
CF10 3AT
United Kingdom
Trial participating centre
Charles University
Prague
116 36
Czech Republic
Trial participating centre
Danish National Epilepsy Centre
Dianalund
4293
Denmark
Trial participating centre
Tallinn Children's Hospital
Tallinn
13419
Estonia
Trial participating centre
University Robert Debré
Paris
75019
France
Trial participating centre
Vestre Viken Health Trust, Oslo
Drammen
3004
Norway
Trial participating centre
Italian League Against Epilepsy
Rome
00198
Italy
Trial participating centre
Hospital for Sick Kids
Toronto
M5G 1X8
Canada
Trial participating centre
Nationwide Children's Hospital
Columbus, Ohio
43215
United States of America
Trial participating centre
Mount Sinai-Beth Israel Medical Center and St Luke’s – Roosevelt Hospital
New York
10003
United States of America
Sponsor information
Organisation
King’s College London
Sponsor details
Director of Research Management and Innovation
Room 1.1 Hodgkin Building
London
SE1 1UL
United Kingdom
Sponsor type
University/education
Website
https://www.kcl.ac.uk/index.aspx
Organisation
King's College Hospital NHS Trust
Sponsor details
Denmark Hill
Brixton
London
SE5 9RS
United Kingdom
Sponsor type
Hospital/treatment centre
Website
Funders
Funder type
Government
Funder name
Canadian Institutes of Health Research
Alternative name(s)
Instituts de Recherche en Santé du Canada, CIHR
Funding Body Type
government organisation
Funding Body Subtype
Federal/National Government
Location
Canada
Results and Publications
Publication and dissemination plan
Planned publication in a high-impact peer reviewed journal.
IPD sharing statement:
Initially, study data will be used for project as detailed and then made available to a limited number of collaborators for other research projects. After this, the data is then expected to be put into publically available repository or available upon request.
Intention to publish date
30/06/2021
Participant level data
To be made available at a later date
Results - basic reporting
Publication summary