Clinical trial NCT03547050: Rolandic Epilepsy Genomewide Association International Study
Official title: Rolandic Epilepsy Genomewide Association International Study
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Rolandic Epilepsy
Keywords: Epilepsy
Rolandic
Genetics
Genomewide Association Study
RE
Neurology
Pediatrics
Lead sponsor: King's College London
Sponsor class: OTHER
Collaborators: name: King's College Hospital NHS Trust
name: Guy's and St Thomas' NHS Foundation Trust
name: Cardiff University
name: The Hospital for Sick Children
name: Hospital JP Garrahan
name: Aghia Sophia Children's Hospital of Athens
name: Hospital Mutua de Terrassa
name: Seattle Children's Hospital
name: Hasbro Children's Hospital
name: Columbia University
First posted: 2018-06-06
Enrollment: 210
Sex: ALL
Minimum age (years): 6
Maximum age (years): 25
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Target population is 3,000 participants with a diagnosis of Rolandic Epilepsy (1,000 UK).

Brief summary: We have discovered a small change in the genetic code which increases the risk of the brainwave abnormality that is found in rolandic epilepsy. We now wish to confirm this using a second much larger sample of patients. We will investigate the other genetic changes that cause people with the brainwave abnormality to develop seizures, as well as problems with speech, coordination, attention and learning.

Detailed 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 25% of child patients have "Rolandic Epilepsy" or RE, also known as Benign Epilepsy with Centrotemporal Spikes (BECTS). RE has a complex genetic basis, probably made up of combinations of susceptibility variants in different genes. Children with RE quite often have other symptoms that affect their speech, attention, reading ability or coordination. The goal of this study is to find the genetic basis for susceptibility to seizures and associated comorbidities for RE using genomewide association approaches.

We know that RE has a genetic basis and we recently discovered the genetic cause of the EEG pattern seen in RE. The goal of REGAIN is to now find the genetic basis for susceptibility to seizures and the associated symptoms above. Our hope is to be able to improve diagnosis and understand why each child with RE is different, and perhaps point us towards new treatments that are more effective and have fewer side effects.

We will compare the genetic code of 3,000 children with RE against a similar number of people not affected by epilepsy. With the proposed large sample of participants, we will be able to pinpoint the exact changes that might lead to seizures or attention problems for example. Learning the genetic basis for these problems will deepen our understanding of the mechanisms and lead to new treatments or cures.

Eligibility criteria: Inclusion Criteria:

1. Diagnosis of Rolandic Epilepsy in accordance with the following international criteria:

   * Age of first afebrile seizure 3-12 years
   * Seizures comprising focal sensorimotor seizures affecting the vocal tract and face, with or without involvement of the arm
   * Predominant sleep-related seizures
   * EEG interictal centro-temporal spikes with normal background
2. Current age 6-25 years

Exclusion Criteria:

1. No history of focal seizure
2. Normal EEG or abnormal background features on EEG
3. Known structural causes (stroke, tuberous sclerosis, infection, post-infectious or metabolic)
4. Primary diagnosis of autism or global learning disability
5. Focal central neurological deficit on clinical exam,
6. Unable to provide informed consent
7. Unable to provide blood sample

Primary outcomes:
measure: Allelic association p value corrected for genome wide testing
timeFrame: Day 1
Secondary outcomes:
Other outcomes:
Locations:
city: New York
country: United States
facility: Columbia University Medical Center
state: New York
city: Providence
country: United States
facility: Hasbro Children's Hospital
state: Rhode Island
city: Seattle
country: United States
facility: Seattle Children's Hospital
state: Washington
city: Buenos Aires
country: Argentina
facility: Dr. Juan P. Garrahan Children's Hospital
city: Toronto
country: Canada
facility: Hospital for Sick Kids
state: Ontario
city: Athens
country: Greece
facility: Aghia Sophia Children's Hospital of Athens
city: Catania
country: Italy
facility: Sicilian Epilepsy Network
city: Roma
country: Italy
facility: Commissione Genetica Lega Italiana contro l'Epilepssia
city: Barcelona
country: Spain
facility: Hospital Mutua de Terrassa
city: Cardiff
country: United Kingdom
facility: Cardiff University School of Medicine
city: London
country: United Kingdom
facility: Guy's and St Thomas' NHS Foundation Trust
city: London
country: United Kingdom
facility: King's College Hospital NHS Foundation Trust
city: Swansea
country: United Kingdom
facility: Swansea University College of Medicine
Study officials:
References: