Clinical Trials Logo

Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT03547050
Other study ID # 229844
Secondary ID TWF 164-3020
Status Completed
Phase
First received
Last updated
Start date June 1, 2018
Est. completion date June 30, 2023

Study information

Verified date March 2023
Source King's College London
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.


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.


Recruitment information / eligibility

Status Completed
Enrollment 210
Est. completion date June 30, 2023
Est. primary completion date March 17, 2023
Accepts healthy volunteers No
Gender All
Age group 6 Years to 25 Years
Eligibility 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

Study Design


Related Conditions & MeSH terms


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
Argentina Dr. Juan P. Garrahan Children's Hospital Buenos Aires
Canada Hospital for Sick Kids Toronto Ontario
Greece Aghia Sophia Children's Hospital of Athens Athens
Italy Sicilian Epilepsy Network Catania
Italy Commissione Genetica Lega Italiana contro l'Epilepssia Roma
Spain Hospital Mutua de Terrassa Barcelona
United Kingdom Cardiff University School of Medicine Cardiff
United Kingdom Guy's and St Thomas' NHS Foundation Trust London
United Kingdom King's College Hospital NHS Foundation Trust London
United Kingdom Swansea University College of Medicine Swansea
United States Columbia University Medical Center New York New York
United States Hasbro Children's Hospital Providence Rhode Island
United States Seattle Children's Hospital Seattle Washington

Sponsors (11)

Lead Sponsor Collaborator
King's College London Aghia Sophia Children's Hospital of Athens, Cardiff University, Columbia University, Guy's and St Thomas' NHS Foundation Trust, Hasbro Children's Hospital, Hospital JP Garrahan, Hospital Mutua de Terrassa, King's College Hospital NHS Trust, Seattle Children's Hospital, The Hospital for Sick Children

Countries where clinical trial is conducted

United States,  Argentina,  Canada,  Greece,  Italy,  Spain,  United Kingdom, 

Outcome

Type Measure Description Time frame Safety issue
Primary Allelic association p value corrected for genome wide testing We will look to see if there are changes in the genetic code that cause brainwave abnormalities close to the genetic changes that we have already discovered. Day 1
See also
  Status Clinical Trial Phase
Active, not recruiting NCT01046760 - Scholar Performance and Praxis Assessment in Children With Rolandic Epilepsy N/A
Completed NCT01335425 - The Rolandic Epilepsy/ESES/Landau-Kleffner Syndrome and Correlation With Language Impairment Study N/A
Recruiting NCT04569708 - Sleep Spindles and Memory in Rolandic Epilepsy N/A
Completed NCT01515436 - The Effect of Music Periodicity on Interictal Epileptiform Discharges N/A
Terminated NCT04610879 - Changing Agendas on Sleep, Treatment and Learning in Epilepsy Phase 4

External Links