Understanding the genetics of Juvenile Myoclonic Epilepsy
Biology of Juvenile Myoclonic Epilepsy
This study is trying to find the genetic causes of Juvenile Myoclonic Epilepsy by collecting blood samples and health information from people with the condition and comparing it to data from those without epilepsy.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1000 (estimated) |
| Ages | 10 Years to 40 Years |
| Sex | All |
| Sponsor | King's College London Academic / other |
| Locations | 15 sites (New York, New York and 14 other locations) |
| Trial ID | NCT03400371 on ClinicalTrials.gov |
What this trial studies
This observational study aims to collect genetic information and clinical data from over 1000 individuals diagnosed with Juvenile Myoclonic Epilepsy (JME) across the UK, Europe, and North America. Participants will provide blood samples and allow access to their clinical EEG data, which will be compared to anonymized data from 2000 control subjects without epilepsy. The primary goal is to identify the genetic causes of JME, which could lead to improved treatments and earlier detection of the condition.
Who should consider this trial
Good fit: Ideal candidates are individuals aged 10-40 years with a diagnosis of Juvenile Myoclonic Epilepsy and specific EEG characteristics.
Not a fit: Patients with myoclonus only associated with certain medications or those with other forms of epilepsy may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better treatments and improved outcomes for patients with Juvenile Myoclonic Epilepsy.
How similar studies have performed: Other studies have shown success in identifying genetic causes of epilepsy, suggesting that this approach may yield valuable insights.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
New York, New York and 14 other locations
- Mount Sinai-Beth Israel Medical Center — New York, New York, United States (Completed)
- St Luke's Roosevelt Hospital — New York, New York, United States (Completed)
- Nationwide Children's Hospital — Columbus, Ohio, United States (Completed)
- Hospital for Sick Kids — Toronto, Ontario, Canada (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)
Study contacts
- Principal investigator: K Pal, MD PhD — King's College London
- Study coordinator: Deb K Pal, MD PhD
- Email: deb.pal@kcl.ac.uk
- Phone: +442078480608
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.