Rolandic Epilepsy Genomewide Association International Study (REGAIN)
Study Overview
Status
Conditions
Intervention / Treatment
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
Enrollment (Actual)
Contacts and Locations
Study Locations
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Buenos Aires, Argentina, C 1245
- Dr. Juan P. Garrahan Children's Hospital
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Ontario
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Toronto, Ontario, Canada, M5G 0A4
- Hospital for Sick Kids
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Athens, Greece, 115 27
- Aghia Sophia Children's Hospital of Athens
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Catania, Italy, 95124
- Sicilian Epilepsy Network
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Roma, Italy, 00198
- Commissione Genetica Lega Italiana contro l'Epilepssia
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Barcelona, Spain, 08221
- Hospital Mútua de Terrassa
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Cardiff, United Kingdom, CF14 4XN
- Cardiff University School of Medicine
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London, United Kingdom, SE1 9HT
- Guy's and St Thomas' NHS Foundation Trust
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London, United Kingdom, SE5 8RX
- King's College Hospital NHS Foundation Trust
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Swansea, United Kingdom, SA2 8PP
- Swansea University College of Medicine
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New York
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New York, New York, United States, 10032
- Columbia University Medical Center
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Rhode Island
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Providence, Rhode Island, United States, 02903
- Hasbro Children's Hospital
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Washington
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Seattle, Washington, United States, 98105
- Seattle Children's Hospital
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
Inclusion Criteria:
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
- Current age 6-25 years
Exclusion Criteria:
- No history of focal seizure
- Normal EEG or abnormal background features on EEG
- Known structural causes (stroke, tuberous sclerosis, infection, post-infectious or metabolic)
- Primary diagnosis of autism or global learning disability
- Focal central neurological deficit on clinical exam,
- Unable to provide informed consent
- Unable to provide blood sample
Study Plan
How is the study designed?
Design Details
- Observational Models: Case-Control
- Time Perspectives: Other
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
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Controls
People without a lifetime history of seizures.
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Control DNA samples will be used that have been previously acquired in other studies.
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Patients diagnosed with RE
People who meet the eligibility requirements and have been diagnosed with rolandic epilepsy.
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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.
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
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Allelic association p value corrected for genome wide testing
Time Frame: Day 1
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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.
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Day 1
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Collaborators and Investigators
Sponsor
Collaborators
Publications and helpful links
Helpful Links
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 229844
- TWF 164-3020 (Other Grant/Funding Number: The Waterloo Foundation)
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
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