Juvenile Myoclonic EpilepsyBIOJUMENCT03400371
Biology of Juvenile Myoclonic Epilepsy
An observational study of Juvenile Myoclonic Epilepsy, run by King's College London at 15 sites in 9 countries.
Trial summary
The investigators are collecting genetic information through blood samples as well as clinical and EEG data from over 1000 people with Juvenile Myoclonic Epilepsy (JME) across the UK, Europe and North America. This study will draw on both existing and new samples from JME patients. Read more about this study
- Who is it for?
- Ages 10 to 40 years
- Conditions the study is for
- Juvenile Myoclonic Epilepsy
- What is being tested?
- Blood draw and Existing samples
- How many people
- 1,000 participants
- Where
- 15 sitesin 9 countries
- Study dates
- 13 Jul 2017to 31 Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 10 to 40 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: People in the UK, Europe, and North America with a diagnosis of Juvenile Myoclonic Epilepsy.
Who may be able to join
- Diagnosis of Juvenile Myoclonic Epilepsy in accordance with Consensus criteria
- Age of myoclonus onset 10-25 years
- Seizures comprising predominant or exclusive early morning myoclonus of upper extremities
- EEG interictal generalized spikes and/or polyspike and waves with normal background
- Current age 10-40 years
Who cannot join
- Myoclonus only associated with carbamazepine or lamotrigine therapy
- EEG showing predominant focal interictal epileptiform discharges or abnormal background
- Any evidence of progressive or symptomatic myoclonus epilepsy or focal seizures
- Global learning disability
- Dysmorphic syndrome
- Unable to provide informed consent
- Regrettably, we are currently unable to accept self-referrals to the BIOJUME study.
Trial locations and contacts
15 sites in 9 countries. Contact the study team or a site near you to ask about taking part.
15 sites in 9 countries
United Kingdom5 sites, 5 recruiting
- Recruiting
Walton Centre for Neurology and Neurosurgery
Liverpool, L9 7LJ
Professor Anthony Marson
- Recruiting
Royal London Hospital
London, E1 1BZ
Maha Awadalla
- Recruiting
St Thomas' Hospital
London, SE1 9HT
Professor Michalis Koutroumanidis
- Recruiting
King's College Hospital NHS Trust
London, SE5 9RS
Professor Deb Pal, deb.pal@kcl.ac.uk
Deb K Pal
- Recruiting
Swansea University
Swansea, SA2 8PP
Professor Mark Rees
Dr Rhys Thomas
United States3 sites
- Completed
Nationwide Children's Hospital
Columbus, Ohio, 43125
- Completed
Mount Sinai-Beth Israel Medical Center
New York, New York, 10003
- Completed
St Luke's Roosevelt Hospital
New York, New York, 10025
Canada1 site, 1 recruiting
- Recruiting
Hospital for Sick Kids
Toronto, Ontario, M5G 0A4
Dr Lisa Strug
Czechia1 site, 1 recruiting
- Recruiting
Charles University
Prague, 116 36
Dr Jana Zarubova
Denmark1 site, 1 recruiting
- Recruiting
Danish National Epilepsy Centre
Dianalund, 4293
Dr Helle Hialgrim
Dr Rikke Moller
Estonia1 site, 1 recruiting
- Recruiting
Tallinn Children's Hospital
Tallinn, 13419
Dr Inga Talvik
France1 site, 1 recruiting
- Recruiting
University Robert Debré
Paris, 75019
Professor Stephane Auvin
Italy1 site, 1 recruiting
- Recruiting
Commissione Genetica Lega Italiana contro l'Epilepssia
Roma, 00198
Dr Amedeo Bianchi
Dr Pasquale Striano
Norway1 site, 1 recruiting
- Recruiting
Vestre Viken Health Trust, Oslo
Drammen, 3004
Dr Jeanette Koht
Dr Kaja Selmer
About this study
The investigators are collecting genetic information through blood samples as well as clinical and EEG data from over 1000 people with Juvenile Myoclonic Epilepsy (JME) across the UK, Europe and North America. This study will draw on both existing and new samples from JME patients. These will be compared to anonymised data from samples for 2000 controls. The goal of this study is 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.
Read the detailed description
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.
The goal of this study is to find the genetic cause for JME. The investigators will do this by comparing the genetic code in JME patients with that in people who do not have epilepsy. This study will use clues from their electroencephalograph or brainwave test that is used to help diagnose epilepsy. Participants will provide a single blood sample, along with permission to collect clinical data about their diagnosis and a copy of their clinical EEG. 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.
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, this study will look at 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.
- Conditions
- Juvenile Myoclonic Epilepsy
- Being tested
- Blood draw, Existing samples
- Keywords
- JME, Epilepsy, Juvenile Myoclonic Epilepsy, Genomewide Association Study, Genetics
- Medical subject headings
- Myoclonic Epilepsy, Juvenile, Epilepsy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood drawOther
Participation includes one visit for one blood draw per recruited patient. 10-20ml peripheral venous blood will be taken from the antecubital fossa. The DNA from the blood sample will then be extracted and resequenced for analysis.
Existing samplesOther
Control DNA samples will be used that have been previously acquired in other studies.
| Study group | Role | What they receive |
|---|---|---|
| Patients diagnosed with JME | People who meet the eligibility requirements and have been diagnosed with juvenile myoclonic epilepsy. Receives: Other: Blood draw | |
| Controls | People without a lifetime history of seizures. Receives: Other: Existing samples |
What is being measured
The primary outcome is the main question the study is designed to answer.
Genomewide DNA association study
Association between SNP marker and phenotype is measured using genomewide DNA markers, which enables us to test support for molecular networks that act on seizure susceptibility
Measured: Day 1
Secondary outcomes (1)
Quantitative EEG endophenotype
Brain network ictogenicity is measured using quantitative EEG data
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Jan 2018
- Study start13 Jul 2017
- Primary completion30 Jun 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Juvenile Myoclonic EpilepsyStudies of the same condition, open and under way.
- More trials run by King's College LondonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Other
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- King's College London
- Sponsor type
- University, hospital or other
- Collaborators
- King's College Hospital NHS Trust, Charles University, Czech Republic, Hopital Universitaire Robert-Debre, Vestre Viken Hospital Trust, The Hospital for Sick Children, Cardiff University, Odense University Hospital
- Responsible party
- Sponsor
- Investigators
- K Pal, MD PhD, Principal investigator, King's College London
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03400371
- Sponsor's protocol ID
- 199351
- Other IDs
- CIHR ID: MOP-142405
- Acronym
- BIOJUME
- Status last verified
- Aug 2025
- First submitted
- 20 Nov 2017
- Last updated
- 5 Sep 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Biology of Juvenile Myoclonic Epilepsy
- ClinicalTrials.gov ID
- NCT03400371
- Acronym / sponsor ID
- BIOJUME / 199351
- Conditions
- Juvenile Myoclonic Epilepsy
- Keywords
- JME, Epilepsy, Juvenile Myoclonic Epilepsy, Genomewide Association Study, Genetics
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- King's College LondonUniversity, hospital or other
- Collaborators
- King's College Hospital NHS Trust, Charles University, Czech Republic, Hopital Universitaire Robert-Debre, Vestre Viken Hospital Trust, The Hospital for Sick Children, Cardiff University, Odense University Hospital
- Study start
- 13 Jul 2017 (actual)
- Primary completion
- 30 Jun 2026 (estimated)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 17 Jan 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The investigators are collecting genetic information through blood samples as well as clinical and EEG data from over 1000 people with Juvenile Myoclonic Epilepsy (JME) across the UK, Europe and North America. This study will draw on both existing and new samples from JME patients. These will be compared to anonymised data from samples for 2000 controls. The goal of this study is 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.
Detailed description
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.
The goal of this study is to find the genetic cause for JME. The investigators will do this by comparing the genetic code in JME patients with that in people who do not have epilepsy. This study will use clues from their electroencephalograph or brainwave test that is used to help diagnose epilepsy. Participants will provide a single blood sample, along with permission to collect clinical data about their diagnosis and a copy of their clinical EEG. 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.
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, this study will look at 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.
Study design
- Observational model
- Case-control
- Time perspective
- Other
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients diagnosed with JME | – | Other: Blood drawPeople who meet the eligibility requirements and have been diagnosed with juvenile myoclonic epilepsy. |
| Controls | – | Other: Existing samplesPeople without a lifetime history of seizures. |
Who may qualify
- Ages
- 10 to 40 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- People in the UK, Europe, and North America with a diagnosis of Juvenile Myoclonic Epilepsy.
Key inclusion criteria (5 listed)
- Diagnosis of Juvenile Myoclonic Epilepsy in accordance with Consensus criteria
- Current age 10-40 years
Key exclusion criteria (7 listed)
- Myoclonus only associated with carbamazepine or lamotrigine therapy
- EEG showing predominant focal interictal epileptiform discharges or abnormal background
- Any evidence of progressive or symptomatic myoclonus epilepsy or focal seizures
- Global learning disability
- Dysmorphic syndrome
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood drawParticipation includes one visit for one blood draw per recruited patient. 10-20ml peripheral venous blood will be taken from the antecubital fossa. The DNA from the blood sample will then be extracted and resequenced for analysis. | Other | Patients diagnosed with JME |
| Existing samplesControl DNA samples will be used that have been previously acquired in other studies. | Other | Controls |
Primary outcome
Genomewide DNA association study
Time frame: Day 1
Association between SNP marker and phenotype is measured using genomewide DNA markers, which enables us to test support for molecular networks that act on seizure susceptibility
1 secondary outcome
Quantitative EEG endophenotype
Time frame: Day 1
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Sep 2025.
- Childhood Epilepsy websiteLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
K Pal, MD PhD principal investigator
King's College London
15 sites in 9 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Juvenile Myoclonic Epilepsy, run by King's College London at 15 sites in 9 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 5 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 15 sites in United Kingdom, United States, Canada, Czechia, Denmark and 4 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Deb K Pal, MD PhD (+442078480608, deb.pal@kcl.ac.uk), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Genomewide DNA association study (time frame: Day 1). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Sep 2025.