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RECRUITINGOBSERVATIONAL

Biology of Juvenile Myoclonic Epilepsy

Important: This information is not medical advice. Talk to your doctor about whether a clinical trial is right for you.

About This Trial

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.

Who May Be Eligible (Plain English)

Who May Qualify: - 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 Should NOT Join This Trial: - 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 willing to sign a consent form Regrettably, we are currently unable to accept self-referrals to the BIOJUME study. Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language
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.

Treatments Being Tested

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.

Locations (15)

Mount Sinai-Beth Israel Medical Center
New York, New York, United States
St Luke's Roosevelt Hospital
New York, New York, United States
Nationwide Children's Hospital
Columbus, Ohio, United States
Hospital for Sick Kids
Toronto, Ontario, Canada
Charles University
Prague, Czechia
Danish National Epilepsy Centre
Dianalund, Denmark
Tallinn Children's Hospital
Tallinn, Estonia
University Robert Debré
Paris, France
Commissione Genetica Lega Italiana contro l'Epilepssia
Roma, Italy
Vestre Viken Health Trust, Oslo
Drammen, Norway
Walton Centre for Neurology and Neurosurgery
Liverpool, United Kingdom
Royal London Hospital
London, United Kingdom
St Thomas' Hospital
London, United Kingdom
King's College Hospital NHS Trust
London, United Kingdom
Swansea University
Swansea, United Kingdom