Biology of Juvenile Myoclonic Epilepsy
- Conditions
- Juvenile Myoclonic Epilepsy
- Interventions
- Other: Existing samplesOther: Blood draw
- Registration Number
- NCT03400371
- Lead Sponsor
- King's College London
- Brief 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. 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.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 1000
-
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
- 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.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Controls Existing samples People without a lifetime history of seizures. Patients diagnosed with JME Blood draw People who meet the eligibility requirements and have been diagnosed with juvenile myoclonic epilepsy.
- Primary Outcome Measures
Name Time Method Genomewide DNA association study 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
- Secondary Outcome Measures
Name Time Method Quantitative EEG endophenotype Day 1 Brain network ictogenicity is measured using quantitative EEG data
Trial Locations
- Locations (15)
Tallinn Children's Hospital
🇪🇪Tallin, Estonia
Mount Sinai-Beth Israel Medical Center
🇺🇸New York, New York, United States
Hospital for Sick Kids
🇨🇦Toronto, Ontario, Canada
St Luke's Roosevelt Hospital
🇺🇸New York, New York, United States
Walton Centre for Neurology and Neurosurgery
🇬🇧Liverpool, United Kingdom
Nationwide Children's Hospital
🇺🇸Columbus, Ohio, United States
Commissione Genetica Lega Italiana contro l'Epilepssia
🇮🇹Roma, Italy
Vestre Viken Health Trust, Oslo
🇳🇴Drammen, Norway
King's College Hospital NHS Trust
🇬🇧London, United Kingdom
Charles University
🇨🇿Praha, Czechia
Danish National Epilepsy Centre
🇩🇰Dianalund, Denmark
University Robert Debré
🇫🇷Paris, France
Royal London Hospital
🇬🇧London, United Kingdom
St Thomas' Hospital
🇬🇧London, United Kingdom
Swansea University
🇬🇧Swansea, United Kingdom