Health TrialsbyHealthPanel

Biology of Juvenile Myoclonic Epilepsy

ConditionJuvenile Myoclonic Epilepsy
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age10-40
SponsorKing's College London

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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

Disqualifiers

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

Trial population

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

Trial design

Design model

Case-control

Time perspective

Other

Treatments tested in this trial

  • Blood draw

    Other intervention

    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.

  • Existing samples

    Other intervention

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

Treatment groups

1,000 Participants
are divided into 2 treatment groups
Group A: Patients diagnosed with JME1 intervention
Group B: Controls1 intervention

Trial outcomes

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

Time frame
Day 1

Secondary outcomes

1

Quantitative EEG endophenotype

Brain network ictogenicity is measured using quantitative EEG data

Time frame
Day 1

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

King's College London

Lead sponsor

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

Source ClinicalTrials.gov
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