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Biology of Juvenile Myoclonic Epilepsy (BIOJUME)

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ClinicalTrials.gov Identifier: NCT03400371
Recruitment Status : Recruiting
First Posted : January 17, 2018
Last Update Posted : January 17, 2018
Sponsor:
Collaborators:
King's College Hospital NHS Trust
St Thomas' Hospital, London
Royal London Hospital for Integrated Medicine
Walton Centre NHS Foundation Trust
College of Medicine, Swansea
Cardiff University
Charles University, Czech Republic
Danish National Epilepsy Centre, Dianalund, Denmark
Tallinn Children`s Hospital, Tallinn, Estonia
Robert Debré Hospital
Vestre Viken Hospital Trust
Italian League Against Epilepsy, Italy
The Hospital for Sick Children
Nationwide Children's Hospital, Columbus, Ohio, USA
Mount Sinai Hospital, New York
St. Luke's-Roosevelt Hospital Center
Information provided by (Responsible Party):
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.

Condition or disease Intervention/treatment
Juvenile Myoclonic Epilepsy Other: Blood draw Other: Existing samples

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.


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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Case-Control
Time Perspective: Other
Official Title: Biology of Juvenile Myoclonic Epilepsy
Actual Study Start Date : July 13, 2017
Estimated Primary Completion Date : March 31, 2019
Estimated Study Completion Date : June 30, 2020


Group/Cohort Intervention/treatment
Patients diagnosed with JME
People who meet the eligibility requirements and have been diagnosed with juvenile myoclonic epilepsy.
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.

Controls
People without a lifetime history of seizures.
Other: Existing samples
Control DNA samples will be used that have been previously acquired in other studies.




Primary Outcome Measures :
  1. Genomewide DNA association study [ Time Frame: 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 :
  1. Quantitative EEG endophenotype [ Time Frame: Day 1 ]
    Brain network ictogenicity is measured using quantitative EEG data


Biospecimen Retention:   Samples With DNA
Whole blood


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   10 Years to 40 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
People in the UK, Europe, and North America with a diagnosis of Juvenile Myoclonic Epilepsy.
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03400371


Contacts
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Contact: Professor Deb K Pal, MA MSc PhD MRCP +44 (020) 7848 0608 robert.mcdowall@kcl.ac.uk
Contact: Robert McDowall, MA

Locations
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United States, New York
Mount Sinai-Beth Israel Medical Center Recruiting
New York, New York, United States, 10003
Contact: Professor Steven Wolf         
St Luke's Roosevelt Hospital Recruiting
New York, New York, United States, 10025
Contact: Professor Steven Wolf         
United States, Ohio
Nationwide Children's Hospital Recruiting
Columbus, Ohio, United States, 43125
Contact: David A Greenberg         
Canada, Ontario
Hospital for Sick Kids Recruiting
Toronto, Ontario, Canada, M5G 0A4
Contact: Dr Lisa Strug         
Czechia
Charles University Recruiting
Praha, Czechia, 116 36
Contact: Dr Jana Zarubova         
Denmark
Danish National Epilepsy Centre Recruiting
Dianalund, Denmark, 4293
Contact: Dr Helle Hialgrim         
Contact: Dr Rikke Moller         
Estonia
Tallinn Children's Hospital Recruiting
Tallin, Estonia, 13419
Contact: Dr Inga Talvik         
France
University Robert Debré Recruiting
Paris, France, 75019
Contact: Professor Stephane Auvin         
Italy
Commissione Genetica Lega Italiana contro l'Epilepssia Recruiting
Roma, Italy, 00198
Contact: Dr Amedeo Bianchi         
Contact: Dr Pasquale Striano         
Norway
Vestre Viken Health Trust, Oslo Recruiting
Drammen, Norway, 3004
Contact: Dr Jeanette Koht         
Contact: Dr Kaja Selmer         
United Kingdom
Walton Centre for Neurology and Neurosurgery Recruiting
Liverpool, United Kingdom, L9 7LJ
Contact: Professor Anthony Marson         
Royal London Hospital Recruiting
London, United Kingdom, E1 1BZ
Contact: Maha Awadalla         
St Thomas' Hospital Recruiting
London, United Kingdom, SE1 9HT
Contact: Professor Michalis Koutroumanidis         
King's College Hospital NHS Trust Recruiting
London, United Kingdom, SE5 9RS
Contact: Professor Deb Pal         
Contact: Rob McDowall         
Swansea University Recruiting
Swansea, United Kingdom, SA2 8PP
Contact: Professor Mark Rees         
Contact: Dr Rhys Thomas         
Sponsors and Collaborators
King's College London
King's College Hospital NHS Trust
St Thomas' Hospital, London
Royal London Hospital for Integrated Medicine
Walton Centre NHS Foundation Trust
College of Medicine, Swansea
Cardiff University
Charles University, Czech Republic
Danish National Epilepsy Centre, Dianalund, Denmark
Tallinn Children`s Hospital, Tallinn, Estonia
Robert Debré Hospital
Vestre Viken Hospital Trust
Italian League Against Epilepsy, Italy
The Hospital for Sick Children
Nationwide Children's Hospital, Columbus, Ohio, USA
Mount Sinai Hospital, New York
St. Luke's-Roosevelt Hospital Center

Additional Information:
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Responsible Party: King's College London
ClinicalTrials.gov Identifier: NCT03400371     History of Changes
Other Study ID Numbers: 199351
CIHR ID: MOP-142405 ( Other Grant/Funding Number: Canadian Institutes of Health Research )
First Posted: January 17, 2018    Key Record Dates
Last Update Posted: January 17, 2018
Last Verified: November 2017

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by King's College London:
JME
Epilepsy
Juvenile Myoclonic Epilepsy
Genomewide Association Study
Genetics
Additional relevant MeSH terms:
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Epilepsy
Epilepsies, Myoclonic
Myoclonic Epilepsy, Juvenile
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Epilepsy, Generalized
Epileptic Syndromes