Biology of Juvenile Myoclonic Epilepsy

NCT03400371 | Recruiting

• 2 other identifiers: 199351CIHR ID: MOP-142405
• Study Type: observational
• Target: 1,000
• Locations: 9 countries
• Sites: 15

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.

Conditions

Juvenile Myoclonic Epilepsy

Keywords

JME; Epilepsy; Juvenile Myoclonic Epilepsy; Genomewide Association Study; Genetics

Outcome Measures

Primary Outcomes (1)

• Genomewide DNA association study

  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

  Day 1

Secondary Outcomes (1)

• Quantitative EEG endophenotype

  Day 1

Study Arms (2)

Patients diagnosed with JME

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

Other: Blood draw

Controls

People without a lifetime history of seizures.

Other: Existing samples

Interventions

Blood draw 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.

Patients diagnosed with JME

Existing samples OTHER

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

Controls

Eligibility Criteria

• Age: 10 Years - 40 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

People in the UK, Europe, and North America with a diagnosis of Juvenile Myoclonic Epilepsy.

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• King's College London: lead
• King's College Hospital NHS Trust: collaborator
• Charles University, Czech Republic: collaborator
• Hopital Universitaire Robert-Debre: collaborator
• Vestre Viken Hospital Trust: collaborator
• The Hospital for Sick Children: collaborator
• Cardiff University: collaborator
• Odense University Hospital: collaborator

Study Sites (15)

Mount Sinai-Beth Israel Medical Center

New York, New York, 10003, United States

COMPLETED

St Luke's Roosevelt Hospital

New York, New York, 10025, United States

COMPLETED

Nationwide Children's Hospital

Columbus, Ohio, 43125, United States

COMPLETED

Hospital for Sick Kids

Toronto, Ontario, M5G 0A4, Canada

RECRUITING

Charles University

Prague, 116 36, Czechia

RECRUITING

Danish National Epilepsy Centre

Dianalund, 4293, Denmark

RECRUITING

Tallinn Children's Hospital

Tallinn, 13419, Estonia

RECRUITING

University Robert Debré

Paris, 75019, France

RECRUITING

Commissione Genetica Lega Italiana contro l'Epilepssia

Roma, 00198, Italy

RECRUITING

Vestre Viken Health Trust, Oslo

Drammen, 3004, Norway

RECRUITING

Walton Centre for Neurology and Neurosurgery

Liverpool, L9 7LJ, United Kingdom

RECRUITING

Royal London Hospital

London, E1 1BZ, United Kingdom

RECRUITING

St Thomas' Hospital

London, SE1 9HT, United Kingdom

RECRUITING

King's College Hospital NHS Trust

London, SE5 9RS, United Kingdom

RECRUITING

Swansea University

Swansea, SA2 8PP, United Kingdom

RECRUITING

Related Links

• Childhood Epilepsy website

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood

MeSH Terms

Conditions

Myoclonic Epilepsy, Juvenile; Epilepsy

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Epilepsies, Myoclonic; Epilepsy, Generalized; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Epileptic Syndromes

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• K Pal, MD PhD

  King's College London

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Deb K Pal, MD PhD

CONTACT

+442078480608; deb.pal@kcl.ac.uk

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 20, 2017
• First Posted: January 17, 2018
• Study Start: July 13, 2017
• Primary Completion (Estimated): June 30, 2026
• Study Completion (Estimated): December 31, 2026
• Last Updated: September 5, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

NO (1); DK (1); CA (1); CZ (1); IT (1); US (3); FR (1); ES (1); GB (5)