Biology of Juvenile Myoclonic Epilepsy

Juvenile Myoclonic Epilepsy Clinical Trial

— BIOJUME  

Official title:

Biology of Juvenile Myoclonic Epilepsy

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03400371
• Other study ID #: 199351
• Secondary ID: CIHR ID: MOP-142
• Status: Recruiting
• Start date: July 13, 2017
• Est. completion date: June 30, 2026

Study information

• Verified date: May 2023
• Source: King's College London
• Contact: Deb K Pal, MD PhD
• Phone: +442078480608
• Email: deb.pal[@]kcl.ac.uk
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1000
• Est. completion date: June 30, 2026
• Est. primary completion date: June 30, 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 10 Years to 40 Years

Eligibility

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.

Related Conditions & MeSH terms

• Epilepsies, Myoclonic
• Epilepsy
• Juvenile Myoclonic Epilepsy

Intervention

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

Locations

Country	Name	City	State
Canada	Hospital for Sick Kids	Toronto	Ontario
Czechia	Charles University	Praha
Denmark	Danish National Epilepsy Centre	Dianalund
Estonia	Tallinn Children's Hospital	Tallin
France	University Robert Debré	Paris
Italy	Commissione Genetica Lega Italiana contro l'Epilepssia	Roma
Norway	Vestre Viken Health Trust, Oslo	Drammen
United Kingdom	Walton Centre for Neurology and Neurosurgery	Liverpool
United Kingdom	King's College Hospital NHS Trust	London
United Kingdom	Royal London Hospital	London
United Kingdom	St Thomas' Hospital	London
United Kingdom	Swansea University	Swansea
United States	Nationwide Children's Hospital	Columbus	Ohio
United States	Mount Sinai-Beth Israel Medical Center	New York	New York
United States	St Luke's Roosevelt Hospital	New York	New York

Sponsors (8)

Lead Sponsor	Collaborator
King's College London	Cardiff University, Charles University, Czech Republic, Hopital Universitaire Robert-Debre, King's College Hospital NHS Trust, Odense University Hospital, The Hospital for Sick Children, Vestre Viken Hospital Trust

Countries where clinical trial is conducted

United States,  Canada,  Czechia,  Denmark,  Estonia,  France,  Italy,  Norway,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	Quantitative EEG endophenotype	Brain network ictogenicity is measured using quantitative EEG data	Day 1

External Links

•   Childhood Epilepsy website