Finding out the genetic cause of Juvenile Myoclonic Epilepsy
| ISRCTN | ISRCTN30903446 |
|---|---|
| DOI | https://doi.org/10.1186/ISRCTN30903446 |
| ClinicalTrials.gov (NCT) | NCT03400371 |
| Integrated Research Application System (IRAS) | 199351 |
| Protocol serial number | CIHR ID: MOP-142405, IRAS Project ID: 199351 |
| Sponsors | King’s College London, King's College Hospital NHS Trust |
| Funder | Canadian Institutes of Health Research |
- 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
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
Contact information
Scientific
Maurice Wohl Clinical Neuroscience Institute
King's College London
125 Coldharbour Lane
London
SE5 9RX
United Kingdom
 ORCID ID |
0000-0003-2655-0564 |
|---|
Public
Maurice Wohl Clinical Neuroscience Institute
King's College London
125 Coldharbour Lane
London
SE5 9RX
United Kingdom
| Phone | +44 (0)20 7848 5162 |
|---|---|
| Holly.crudgington@kcl.ac.uk |
Study information
| Primary study design | Observational |
|---|---|
| Study design | Observational cross-sectional study |
| Secondary study design | Cross sectional study |
| Study type | Participant information sheet |
| Scientific title | Biology of Juvenile Myoclonic Epilepsy |
| Study acronym | BIOJUME |
| Study objectives | 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(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) studied | 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 | Not Applicable |
| Drug / device / biological / vaccine name(s) | Not provided at time of registration |
| Primary outcome measure(s) |
Association between SNP marker and phenotype is measured using genomewide DNA markers at a single timepoint |
| Key secondary outcome measure(s) |
Brain network ictogenicity is measured using quantitative EEG data at a single timepoint |
| Completion date | 30/09/2026 |
Eligibility
| Participant type(s) | Patient |
|---|---|
| Age group | Mixed |
| Lower age limit | 6 Years |
| Upper age limit | 50 Years |
| Sex | All |
| Target sample size at registration | 2000 |
| Key inclusion criteria | Current 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 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 |
| Date of first enrolment | 13/07/2017 |
| Date of final enrolment | 30/06/2026 |
Locations
Countries of recruitment
- United Kingdom
- England
- Wales
- Canada
- Czech Republic
- Denmark
- Estonia
- Germany
- Italy
- Malaysia
- Sweden
- United States of America
Study participating centres
SE5 9RS
United Kingdom
SA2 8PP
United Kingdom
CF10 3AT
United Kingdom
116 36
Czech Republic
4293
Denmark
13419
Estonia
3004
Norway
00198
Italy
M5G 1X8
Canada
43215
United States of America
5000
Denmark
50603
Malaysia
171 64
Sweden
35043
Germany
00185
Italy
Freeman Road
High Heaton
Newcastle upon Tyne
NE7 7DN
United Kingdom
02903
United States of America
Skipton Road
Steeton
Keighley
BD20 6TD
United Kingdom
Duckworth Lane
Bradford
BD9 6RJ
United Kingdom
Cardiff
CF14 4XW
United Kingdom
Dartford
DA2 8DA
United Kingdom
SE1 7EH
United Kingdom
Beckett Street
Leeds
LS9 7TF
United Kingdom
Glasgow
G51 4TF
United Kingdom
Results and Publications
| Individual participant data (IPD) Intention to share | No |
|---|---|
| IPD sharing plan summary | Data sharing statement to be made available at a later date |
| IPD sharing plan | 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 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 | ||
| Participant information sheet | Participant information sheet | 11/11/2025 | 11/11/2025 | No | Yes |
| Study website | Study website | 11/11/2025 | 11/11/2025 | No | Yes |
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.
