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Clinical Trials in Italy / NCT03400371
Recruiting Observational

Biology of Juvenile Myoclonic Epilepsy

NCT03400371 · tracked via the Priya Life Science Italy tracker
Sponsor
King's College London
Phase
Observational
Started
2017-07-13
Last updated
2025-09-05

Condition(s) studied

Juvenile Myoclonic Epilepsy

Investigational drug(s) / intervention(s)

Blood drawExisting samples

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.

Study 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.

Eligibility

Sex
ALL
Min age
10 Years
Max age
40 Years
Healthy volunteers
No
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.

Primary outcome measure(s)

  • Genomewide DNA association study — Day 1
    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

Trial sites (15)

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

More King's College London trials in Italy

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT03400371 on ClinicalTrials.gov ↗ ← All trials in Italy