Biology of Juvenile Myoclonic Epilepsy
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Blood draw, Existing samples.
- Who it may be relevant to
- Registry conditions: Juvenile Myoclonic Epilepsy. Basic parameters: 10 years — 40 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States, Canada, Czechia, Denmark, Estonia +4
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Interventions
- Other Blood draw
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. - Other Existing samples
Control DNA samples will be used that have been previously acquired in other studies.
Primary outcome measures
- Genomewide DNA association study [Time frame: Day 1]
Secondary outcome measures (1)
- Quantitative EEG endophenotype [Time frame: Day 1]
Eligibility criteria
Inclusion criteria
- 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
Exclusion criteria
- 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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-control
Study locations
United Kingdom · 5 centers
- Walton Centre for Neurology and Neurosurgery — Liverpool
- Royal London Hospital — London
- St Thomas' Hospital — London
- King's College Hospital NHS Trust — London
- Swansea University — Swansea
United States · 3 centers
- Mount Sinai-Beth Israel Medical Center — New York
- St Luke's Roosevelt Hospital — New York
- Nationwide Children's Hospital — Columbus
Canada · 1 center
- Hospital for Sick Kids — Toronto
Czechia · 1 center
- Charles University — Prague
Denmark · 1 center
- Danish National Epilepsy Centre — Dianalund
Estonia · 1 center
- Tallinn Children's Hospital — Tallinn
France · 1 center
- University Robert Debré — Paris
Italy · 1 center
- Commissione Genetica Lega Italiana contro l'Epilepssia — Roma
Norway · 1 center
- Vestre Viken Health Trust, Oslo — Drammen
Identifiers
NCT: NCT03400371 · 199351 · CIHR ID: MOP-142405