Rolandic EpilepsyREGAINNCT03547050
Rolandic Epilepsy Genomewide Association International Study
An observational study of Rolandic Epilepsy, run by King's College London at 13 sites in 7 countries.
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. Read more about this study
- Who is it for?
- Ages 6 to 25 years
- Conditions the study is for
- Rolandic Epilepsy
- What is being tested?
- Blood draw and Existing samples
- How many people
- 210 participants
- Where
- 13 sitesin 7 countries
- Study dates
- 1 Jun 2018to 30 Jun 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 to 25 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Target population is 3,000 participants with a diagnosis of Rolandic Epilepsy (1,000 UK).
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
13 sites in 7 countries.
13 sites in 7 countries
United Kingdom4 sites
Cardiff University School of Medicine
Cardiff, CF14 4XN
Guy's and St Thomas' NHS Foundation Trust
London, SE1 9HT
King's College Hospital NHS Foundation Trust
London, SE5 8RX
Swansea University College of Medicine
Swansea, SA2 8PP
United States3 sites
Columbia University Medical Center
New York, New York, 10032
Hasbro Children's Hospital
Providence, Rhode Island, 02903
Seattle Children's Hospital
Seattle, Washington, 98105
Italy2 sites
Sicilian Epilepsy Network
Catania, 95124
Commissione Genetica Lega Italiana contro l'Epilepssia
Roma, 00198
Argentina1 site
Dr. Juan P. Garrahan Children's Hospital
Buenos Aires, C 1245
About this study
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.
Read the 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.
- Conditions
- Rolandic Epilepsy
- Being tested
- Blood draw, Existing samples
- Keywords
- Epilepsy, Rolandic, Genetics, Genomewide Association Study, RE, Neurology, Pediatrics
- Medical subject headings
- Epilepsy, Rolandic, Epilepsy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood drawOther
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 samplesOther
Control DNA samples will be used that have been previously acquired in other studies.
| Study group | Role | What they receive |
|---|---|---|
| Patients diagnosed with RE | People who meet the eligibility requirements and have been diagnosed with rolandic epilepsy. Receives: Other: Blood draw | |
| Controls | People without a lifetime history of seizures. Receives: Other: Existing samples |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Jun 2018
- Study start1 Jun 2018
- Primary completion17 Mar 2023
- Study completion30 Jun 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rolandic EpilepsyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Other
- Enrolment
- 210 participants (actual)
Sponsor and investigators
- Lead sponsor
- King's College London
- Sponsor type
- University, hospital or other
- 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, Hospital Mutua de Terrassa, Seattle Children's Hospital, Hasbro Children's Hospital, Columbia University
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03547050
- Sponsor's protocol ID
- 229844
- Other IDs
- TWF 164-3020
- Acronym
- REGAIN
- Status last verified
- Mar 2023
- First submitted
- 24 May 2018
- Last updated
- 6 Oct 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Oct 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Rolandic Epilepsy Genomewide Association International Study
- ClinicalTrials.gov ID
- NCT03547050
- Acronym / sponsor ID
- REGAIN / 229844
- Conditions
- Rolandic Epilepsy
- Keywords
- Epilepsy, Rolandic, Genetics, Genomewide Association Study, RE, Neurology, Pediatrics
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 210 participants (actual)
- Lead sponsor
- King's College LondonUniversity, hospital or other
- 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, Hospital Mutua de Terrassa, Seattle Children's Hospital, Hasbro Children's Hospital, Columbia University
- Study start
- 1 Jun 2018 (actual)
- Primary completion
- 17 Mar 2023 (actual)
- Study completion
- 30 Jun 2023 (actual)
- First posted
- 6 Jun 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Other
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients diagnosed with RE | – | Other: Blood drawPeople who meet the eligibility requirements and have been diagnosed with rolandic epilepsy. |
| Controls | – | Other: Existing samplesPeople without a lifetime history of seizures. |
Who may qualify
- Ages
- 6 to 25 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Target population is 3,000 participants with a diagnosis of Rolandic Epilepsy (1,000 UK).
Key inclusion criteria (6 listed)
- Diagnosis of Rolandic Epilepsy in accordance with the following international criteria:
- Current age 6-25 years
Key exclusion criteria (7 listed)
- 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,
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood drawParticipation 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. | Other | Patients diagnosed with RE |
| Existing samplesControl DNA samples will be used that have been previously acquired in other studies. | Other | Controls |
Primary outcome
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Oct 2023.
- Childhood Epilepsy websiteLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
13 sites in 7 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rolandic Epilepsy, run by King's College London at 13 sites in 7 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 6 Oct 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 13 sites in United Kingdom, United States, Italy, Argentina, Canada and 2 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Allelic association p value corrected for genome wide testing (time frame: Day 1). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Oct 2023.