Biology of Juvenile Myoclonic Epilepsy
King's College London
1,000 participants
Jul 13, 2017
OBSERVATIONAL
Conditions
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.
Eligibility
Inclusion Criteria5
- 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 Criteria7
- 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.
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Interventions
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.
Control DNA samples will be used that have been previously acquired in other studies.
Locations(15)
View Full Details on ClinicalTrials.gov
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NCT03400371