Clinical trial NCT03400371: Biology of Juvenile Myoclonic Epilepsy
Official title: Biology of Juvenile Myoclonic Epilepsy
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Juvenile Myoclonic Epilepsy
Keywords: JME
Epilepsy
Juvenile Myoclonic Epilepsy
Genomewide Association Study
Genetics
Lead sponsor: King's College London
Sponsor class: OTHER
Collaborators: name: King's College Hospital NHS Trust
name: Charles University, Czech Republic
name: Hopital Universitaire Robert-Debre
name: Vestre Viken Hospital Trust
name: The Hospital for Sick Children
name: Cardiff University
name: Odense University Hospital
First posted: 2018-01-17
Enrollment: 1000
Sex: ALL
Minimum age (years): 10
Maximum age (years): 40
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: People in the UK, Europe, and North America with a diagnosis of Juvenile Myoclonic Epilepsy.

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.

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.

Primary outcomes:
measure: Genomewide DNA association study
timeFrame: Day 1
Secondary outcomes:
measure: Quantitative EEG endophenotype
timeFrame: Day 1
Other outcomes:
Locations:
city: New York
country: United States
facility: Mount Sinai-Beth Israel Medical Center
state: New York
city: New York
country: United States
facility: St Luke's Roosevelt Hospital
state: New York
city: Columbus
country: United States
facility: Nationwide Children's Hospital
state: Ohio
city: Toronto
country: Canada
facility: Hospital for Sick Kids
state: Ontario
city: Praha
country: Czechia
facility: Charles University
city: Dianalund
country: Denmark
facility: Danish National Epilepsy Centre
city: Tallin
country: Estonia
facility: Tallinn Children's Hospital
city: Paris
country: France
facility: University Robert Debré
city: Roma
country: Italy
facility: Commissione Genetica Lega Italiana contro l'Epilepssia
city: Drammen
country: Norway
facility: Vestre Viken Health Trust, Oslo
city: Liverpool
country: United Kingdom
facility: Walton Centre for Neurology and Neurosurgery
city: London
country: United Kingdom
facility: Royal London Hospital
city: London
country: United Kingdom
facility: St Thomas' Hospital
city: London
country: United Kingdom
facility: King's College Hospital NHS Trust
city: Swansea
country: United Kingdom
facility: Swansea University
Study officials:
affiliation: King's College London
name: K Pal, MD PhD
role: PRINCIPAL_INVESTIGATOR
References: