Recruiting

Observational Study

Sponsor:

King's College London

Code:

NCT03400371

Conditions

Juvenile Myoclonic Epilepsy

Eligibility Criteria

Sex: All

Age: 10 - 40

Healthy Volunteers: Not accepted

Interventions

Blood draw

Existing samples

Study Details

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

Study ID

NCT03400371

Start date

Jul 13, 2017

Status verified date

Aug, 2025

Completion date

Dec 31, 2026

Anticipated

Primary completion date

Jun 30, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 10 - 40

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

1000 participants

Anticipated

Interventions and Outcome Measures

Arms

Patients diagnosed with JME

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

Controls

People without a lifetime history of seizures.

Interventions

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.

Existing samples

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

Primary outcome measure

  • Genomewide DNA association study [ Time Frame: Day 1 ]

Central Contacts and Locations

Central contacts

Deb K Pal, MD PhD

+442078480608deb.pal@kcl.ac.uk

Locations

Hospital for Sick Kids

Recruiting

Toronto, Ontario, Canada, M5G 0A4

More Information

Sponsor

King's College London

Last update posted

Sep 5, 2025

Last verified

Aug, 2025

Keywords

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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by King's College London on 2025-09-05.