Biology of Juvenile Myoclonic Epilepsy

NCT ID: NCT03400371

Last Updated: 2025-09-05

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

1000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-07-13

Study Completion Date

2026-12-31

Brief Summary

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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

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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.

Conditions

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Juvenile Myoclonic Epilepsy

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

OTHER

Study Groups

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Patients diagnosed with JME

People who meet the eligibility requirements and have been diagnosed with juvenile myoclonic epilepsy.

Blood draw

Intervention Type OTHER

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.

Existing samples

Intervention Type OTHER

Control DNA samples will be used that have been previously acquired in other studies.

Interventions

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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.

Intervention Type OTHER

Existing samples

Control DNA samples will be used that have been previously acquired in other studies.

Intervention Type OTHER

Eligibility Criteria

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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.
Minimum Eligible Age

10 Years

Maximum Eligible Age

40 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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King's College Hospital NHS Trust

OTHER

Sponsor Role collaborator

Charles University, Czech Republic

OTHER

Sponsor Role collaborator

Hopital Universitaire Robert-Debre

OTHER

Sponsor Role collaborator

Vestre Viken Hospital Trust

OTHER

Sponsor Role collaborator

The Hospital for Sick Children

OTHER

Sponsor Role collaborator

Cardiff University

OTHER

Sponsor Role collaborator

Odense University Hospital

OTHER

Sponsor Role collaborator

King's College London

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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K Pal, MD PhD

Role: PRINCIPAL_INVESTIGATOR

King's College London

Locations

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Mount Sinai-Beth Israel Medical Center

New York, New York, United States

Site Status COMPLETED

St Luke's Roosevelt Hospital

New York, New York, United States

Site Status COMPLETED

Nationwide Children's Hospital

Columbus, Ohio, United States

Site Status COMPLETED

Hospital for Sick Kids

Toronto, Ontario, Canada

Site Status RECRUITING

Charles University

Prague, , Czechia

Site Status RECRUITING

Danish National Epilepsy Centre

Dianalund, , Denmark

Site Status RECRUITING

Tallinn Children's Hospital

Tallinn, , Estonia

Site Status RECRUITING

University Robert Debré

Paris, , France

Site Status RECRUITING

Commissione Genetica Lega Italiana contro l'Epilepssia

Roma, , Italy

Site Status RECRUITING

Vestre Viken Health Trust, Oslo

Drammen, , Norway

Site Status RECRUITING

Walton Centre for Neurology and Neurosurgery

Liverpool, , United Kingdom

Site Status RECRUITING

Royal London Hospital

London, , United Kingdom

Site Status RECRUITING

St Thomas' Hospital

London, , United Kingdom

Site Status RECRUITING

King's College Hospital NHS Trust

London, , United Kingdom

Site Status RECRUITING

Swansea University

Swansea, , United Kingdom

Site Status RECRUITING

Countries

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United States Canada Czechia Denmark Estonia France Italy Norway United Kingdom

Central Contacts

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Deb K Pal, MD PhD

Role: CONTACT

+442078480608

Facility Contacts

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Dr Lisa Strug

Role: primary

Dr Jana Zarubova

Role: primary

Dr Helle Hialgrim

Role: primary

Dr Rikke Moller

Role: backup

Dr Inga Talvik

Role: primary

Professor Stephane Auvin

Role: primary

Dr Amedeo Bianchi

Role: primary

Dr Pasquale Striano

Role: backup

Dr Jeanette Koht

Role: primary

Dr Kaja Selmer

Role: backup

Professor Anthony Marson

Role: primary

Maha Awadalla

Role: primary

Professor Michalis Koutroumanidis

Role: primary

Professor Deb Pal

Role: primary

Deb K Pal

Role: backup

Professor Mark Rees

Role: primary

Dr Rhys Thomas

Role: backup

Related Links

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https://childhoodepilepsy.org

Childhood Epilepsy website

Other Identifiers

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CIHR ID: MOP-142405

Identifier Type: OTHER_GRANT

Identifier Source: secondary_id

199351

Identifier Type: -

Identifier Source: org_study_id

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