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Rolandic Epilepsy Genomewide Association International Study (REGAIN)

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ClinicalTrials.gov Identifier: NCT03547050
Recruitment Status : Recruiting
First Posted : June 6, 2018
Last Update Posted : August 14, 2018
Sponsor:
Collaborators:
King's College Hospital NHS Trust
Guy's and St Thomas' NHS Foundation Trust
Cardiff University
The Hospital for Sick Children
Hospital JP Garrahan
Aghia Sophia Children's Hospital of Athens
Commissione Genetica Lega Italiana contro l'Epilepssia
Sicilian Epilepsy Network
Hospital Mutua de Terrassa
Seattle Children's Hospital
Hasbro Children's Hospital
Columbia University
Information provided by (Responsible Party):
King's College London

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.

Condition or disease Intervention/treatment
Rolandic Epilepsy Other: Blood draw Other: Existing samples

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.


Study Type : Observational
Estimated Enrollment : 3000 participants
Observational Model: Case-Control
Time Perspective: Other
Official Title: Rolandic Epilepsy Genomewide Association International Study
Actual Study Start Date : June 1, 2018
Estimated Primary Completion Date : December 31, 2020
Estimated Study Completion Date : December 31, 2020

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Epilepsy

Group/Cohort Intervention/treatment
Patients diagnosed with RE
People who meet the eligibility requirements and have been diagnosed with rolandic epilepsy.
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.

Controls
People without a lifetime history of seizures.
Other: Existing samples
Control DNA samples will be used that have been previously acquired in other studies.




Primary Outcome Measures :
  1. Allelic association p value corrected for genome wide testing [ Time Frame: Day 1 ]
    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.


Biospecimen Retention:   Samples With DNA
Whole blood


Information from the National Library of Medicine

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Ages Eligible for Study:   6 Years to 25 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Target population is 3,000 participants with a diagnosis of Rolandic Epilepsy (1,000 UK).
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03547050


Contacts
Contact: Professor Deb K Pal, MA MSc PhD MRCP +44 (020) 7848 5162 amber.collingwood@kcl.ac.uk
Contact: Amber Collingwood, MA

Locations
United States, New York
Columbia University Medical Center Not yet recruiting
New York, New York, United States, 10032
Contact: Dr Cigdem Akman         
United States, Rhode Island
Hasbro Children's Hospital Not yet recruiting
Providence, Rhode Island, United States, 02903
Contact: Professor David Mandelbaum         
United States, Washington
Seattle Children's Hospital Not yet recruiting
Seattle, Washington, United States, 98105
Contact: Professor Edward Novotny         
Argentina
Dr. Juan P. Garrahan Children's Hospital Not yet recruiting
Buenos Aires, Argentina, C 1245
Contact: Dr Roberto Caraballo         
Canada, Ontario
Hospital for Sick Kids Not yet recruiting
Toronto, Ontario, Canada, M5G 0A4
Contact: Dr Lisa Strug         
Greece
Aghia Sophia Children's Hospital of Athens Not yet recruiting
Athens, Greece, 115 27
Contact: Professor Thanis Covanis         
Italy
Sicilian Epilepsy Network Not yet recruiting
Catania, Italy, 95124
Contact: Professor Martino Ruggieri         
Commissione Genetica Lega Italiana contro l'Epilepssia Not yet recruiting
Roma, Italy, 00198
Contact: Dr Pasquale Striano         
Spain
Hospital Mutua de Terrassa Not yet recruiting
Barcelona, Spain, 08221
Contact: Dr Yaiza Hernandez-Vega         
United Kingdom
Cardiff University School of Medicine Not yet recruiting
Cardiff, United Kingdom, CF14 4XN
Contact: Dr Frances Gibbon         
Contact: Dr Khalid Hamandi         
Guy's and St Thomas' NHS Foundation Trust Not yet recruiting
London, United Kingdom, SE1 9HT
Contact: Dr John Jackman         
King's College Hospital NHS Foundation Trust Recruiting
London, United Kingdom, SE5 8RX
Contact: Professor Deb K Pal, MA MSc PhD MRCP         
Swansea University College of Medicine Not yet recruiting
Swansea, United Kingdom, SA2 8PP
Contact: Dr Khalid Hamandi         
Contact: Dr Frances Gibbon         
Sponsors and Collaborators
King's College London
King's College Hospital NHS Trust
Guy's and St Thomas' NHS Foundation Trust
Cardiff University
The Hospital for Sick Children
Hospital JP Garrahan
Aghia Sophia Children's Hospital of Athens
Commissione Genetica Lega Italiana contro l'Epilepssia
Sicilian Epilepsy Network
Hospital Mutua de Terrassa
Seattle Children's Hospital
Hasbro Children's Hospital
Columbia University

Additional Information:
Responsible Party: King's College London
ClinicalTrials.gov Identifier: NCT03547050     History of Changes
Other Study ID Numbers: 229844
TWF 164-3020 ( Other Grant/Funding Number: The Waterloo Foundation )
First Posted: June 6, 2018    Key Record Dates
Last Update Posted: August 14, 2018
Last Verified: March 2018

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by King's College London:
Epilepsy
Rolandic
Genetics
Genomewide Association Study
RE
Neurology
Pediatrics

Additional relevant MeSH terms:
Epilepsy
Epilepsy, Rolandic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Epilepsies, Partial