Condition category
Nervous System Diseases
Date applied
20/11/2017
Date assigned
18/12/2017
Last edited
05/01/2018
Prospective/Retrospective
Retrospectively registered
Overall trial status
Ongoing
Recruitment status
Recruiting

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

http://www.childhood-epilepsy.org

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 measure

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 (if study stopped)

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

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

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

Basic results (scientific)

Publication list

Publication citations

Additional files

Editorial Notes

05/01/2018: Internal review.