Finding out the genetic cause of Juvenile Myoclonic Epilepsy

ISRCTN ISRCTN30903446
DOI https://doi.org/10.1186/ISRCTN30903446
IRAS number 199351
ClinicalTrials.gov number NCT03400371
Secondary identifying numbers CIHR ID: MOP-142405, IRAS Project ID: 199351
Submission date
20/11/2017
Registration date
18/12/2017
Last edited
08/05/2025
Recruitment status
Recruiting
Overall study status
Ongoing
Condition category
Nervous System Diseases
Prospectively registered
Protocol
Statistical analysis plan
Results
Individual participant data
Record updated in last year

Plain English summary of protocol

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 a 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 6 to 50 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?
King’s College London (UK)

When is the study starting and how long is it expected to run for?
July 2015 to September 2026

Who is funding the study?
Canadian Institutes of Health Research (Canada)

Who is the main contact?
1. Professor Deb Pal
2. Sylvine Lalnunhlimi

Study website

Contact information

Prof Deb Pal
Scientific

Maurice Wohl Clinical Neuroscience Institute
King's College London
125 Coldharbour Lane
London
SE5 9RX
United Kingdom

ORCiD logoORCID ID 0000-0003-2655-0564
Miss Holly Crudgington
Public

Maurice Wohl Clinical Neuroscience Institute
King's College London
125 Coldharbour Lane
London
SE5 9RX
United Kingdom

Phone +44 (0)20 7848 5162
Email Holly.crudgington@kcl.ac.uk

Study information

Study designObservational cross-sectional study
Primary study designObservational
Secondary study designCross sectional study
Study setting(s)Hospital
Study typeScreening
Participant information sheet Not available in web format, please use the contact details to request a patient information sheet
Scientific titleBiology of Juvenile Myoclonic Epilepsy
Study acronymBIOJUME
Study objectives1. 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(s)Approved 08/12/2016, South Central - Oxford C NHS Research Ethics Committee (Level 3, Block B Lewins Mead, Bristol, BS1 2NT, United Kingdom; ‭+44 (0)20 7104 8049‬; nrescommittee.southcentral-oxfordc@nhs.net), ref: 16/SC/0266
Health condition(s) or problem(s) studiedPeople with a diagnosis of Juvenile Myoclonic Epilepsy
InterventionParticipation 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 typeBiological/Vaccine
Pharmaceutical study type(s)
PhaseNot Applicable
Drug / device / biological / vaccine name(s)Not provided at time of registration
Primary outcome measureAssociation between SNP marker and phenotype is measured using genomewide DNA markers at a single timepoint
Secondary outcome measuresBrain network ictogenicity is measured using quantitative EEG data at a single timepoint
Overall study start date01/07/2015
Completion date30/09/2026

Eligibility

Participant type(s)Patient
Age groupMixed
Lower age limit6 Years
Upper age limit50 Years
SexBoth
Target number of participants2,000
Key inclusion criteriaCurrent inclusion criteria as of 08/05/2025:
1. Diagnosis of Juvenile Myoclonic Epilepsy in accordance with Consensus criteria
2. Age of myoclonus onset 6-25 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 6-50 years

Previous 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
Key exclusion criteria1. 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
Date of first enrolment13/07/2017
Date of final enrolment30/06/2026

Locations

Countries of recruitment

  • Canada
  • Czech Republic
  • Denmark
  • England
  • Estonia
  • Germany
  • Italy
  • Malaysia
  • Sweden
  • United Kingdom
  • United States of America
  • Wales

Study participating centres

King's College Hospital
London
SE5 9RS
United Kingdom
College of Medicine
Swansea
SA2 8PP
United Kingdom
Cardiff University
Cardiff
CF10 3AT
United Kingdom
Charles University
Prague
116 36
Czech Republic
Danish National Epilepsy Centre
Dianalund
4293
Denmark
Tallinn Children's Hospital
Tallinn
13419
Estonia
Vestre Viken Health Trust, Oslo
Drammen
3004
Norway
Italian League Against Epilepsy
Rome
00198
Italy
Hospital for Sick Kids
Toronto
M5G 1X8
Canada
Nationwide Children's Hospital
Columbus, Ohio
43215
United States of America
Odense University Hospital
Odense
5000
Denmark
University of Malaysia
Kuala Lumpur
50603
Malaysia
Karolinska University Hospital
Stockholm
171 64
Sweden
Marburg University Hospital
Marburg
35043
Germany
Sapienza University of Rome
Rome
00185
Italy
The Newcastle upon Tyne Hospitals NHS Foundation Trust
Freeman Hospital
Freeman Road
High Heaton
Newcastle upon Tyne
NE7 7DN
United Kingdom
Hasbro Children's Hospital, Brown University
Rhode Island
02903
United States of America
Airedale NHS Foundation Trust
Airedale General Hospital
Skipton Road
Steeton
Keighley
BD20 6TD
United Kingdom
Bradford Teaching Hospitals NHS Foundation Trust
Bradford Royal Infirmary
Duckworth Lane
Bradford
BD9 6RJ
United Kingdom
University of Wales and Llandough Hospital NHS Trust
Heath Park
Cardiff
CF14 4XW
United Kingdom
Darent Valley Hospital
Darenth Wood Road
Dartford
DA2 8DA
United Kingdom
Guys and St Thomas' NHS Foundation Trust
London
SE1 7EH
United Kingdom
Leeds Teaching Hospitals NHS Trust
St. James's University Hospital
Beckett Street
Leeds
LS9 7TF
United Kingdom
Queen Elizabeth University Hospital
1345 Govan Road
Glasgow
G51 4TF
United Kingdom

Sponsor information

King’s College London
University/education

Director of Research Management and Innovation
Room 1.1 Hodgkin Building
London
SE1 1UL
England
United Kingdom

Website https://www.kcl.ac.uk/index.aspx
King's College Hospital NHS Trust
Hospital/treatment centre

Denmark Hill
Brixton
London
SE5 9RS
England
United Kingdom

Website https://www.kch.nhs.uk/

Funders

Funder type

Government

Canadian Institutes of Health Research
Government organisation / National government
Alternative name(s)
Instituts de Recherche en Santé du Canada, Canadian Institutes of Health Research (CIHR), CIHR_IRSC, Canadian Institutes of Health Research | Ottawa ON, CIHR, IRSC
Location
Canada

Results and Publications

Intention to publish date30/09/2027
Individual participant data (IPD) Intention to shareNo
IPD sharing plan summaryData sharing statement to be made available at a later date
Publication and dissemination planPlanned publication in a high-impact peer reviewed journal.
IPD sharing planInitially, 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 a publically available repository or available upon request.

Study outputs

Output type Details Date created Date added Peer reviewed? Patient-facing?
HRA research summary 28/06/2023 No No

Editorial Notes

08/06/2025: The following changes were made to the study record:
1. Ethics approval details added.
2. The inclusion criteria were updated.
3. The target number of participants was changed from 1,000 to 2,000.
4. The countries of recruitment were updated to remove France and Norway and add Germany and Sweden.
5. The study participating centres were updated to remove University of Catania, Institute of Neuroscience, and University Robert Debré, and to add Karolinska University Hospital, Marburg University Hospital, Sapienza University of Rome, Newcastle upon Tyne Hospitals NHS Foundation Trust, Hasbro Children's Hospital, Brown University, Airedale NHS Foundation Trust, Bradford Teaching Hospitals NHS Foundation Trust, University of Wales and Llandough Hospital NHS Trust, Darent Valley Hospital, Guy's and St Thomas' NHS Foundation Trust, Leeds Teaching Hospitals NHS Trust, and Queen Elizabeth University Hospital.
08/04/2024: ClinicalTrials.gov number added.
08/05/2020: The public contact has been updated and the plain English summary has been updated accordingly.
28/04/2020: The following changes were made to the trial record:
1. The recruitment end date was changed from 31/03/2020 to 30/06/2026.
2. The overall end date was changed from 30/06/2020 to 30/09/2026.
3. The intention to publish date was changed from 30/06/2021 to 30/09/2027.
4. The plain English summary was updated to reflect these changes.
12/08/2019: Trial participating centres updated.
04/04/2019: The recruitment end date was changed from 31/03/2019 to 31/03/2020.
05/01/2018: Internal review.