Rolandic Epilepsy Genomewide Association International Study

NCT ID: NCT03547050

Last Updated: 2023-10-06

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Total Enrollment

210 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-06-01

Study Completion Date

2023-06-30

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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

See the medical conditions and disease areas that this research is targeting or investigating.

Rolandic Epilepsy

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

CASE_CONTROL

Study Time Perspective

OTHER

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Patients diagnosed with RE

People who meet the eligibility requirements and have been diagnosed with rolandic epilepsy.

Blood draw

Intervention Type OTHER

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.

Existing samples

Intervention Type OTHER

Control DNA samples will be used that have been previously acquired in other studies.

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

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.

Intervention Type OTHER

Existing samples

Control DNA samples will be used that have been previously acquired in other studies.

Intervention Type OTHER

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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
Minimum Eligible Age

6 Years

Maximum Eligible Age

25 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

King's College Hospital NHS Trust

OTHER

Sponsor Role collaborator

Guy's and St Thomas' NHS Foundation Trust

OTHER

Sponsor Role collaborator

Cardiff University

OTHER

Sponsor Role collaborator

The Hospital for Sick Children

OTHER

Sponsor Role collaborator

Hospital JP Garrahan

OTHER_GOV

Sponsor Role collaborator

Aghia Sophia Children's Hospital of Athens

OTHER

Sponsor Role collaborator

Hospital Mutua de Terrassa

OTHER

Sponsor Role collaborator

Seattle Children's Hospital

OTHER

Sponsor Role collaborator

Hasbro Children's Hospital

OTHER

Sponsor Role collaborator

Columbia University

OTHER

Sponsor Role collaborator

King's College London

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Responsibility Role SPONSOR

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

Columbia University Medical Center

New York, New York, United States

Site Status

Hasbro Children's Hospital

Providence, Rhode Island, United States

Site Status

Seattle Children's Hospital

Seattle, Washington, United States

Site Status

Dr. Juan P. Garrahan Children's Hospital

Buenos Aires, , Argentina

Site Status

Hospital for Sick Kids

Toronto, Ontario, Canada

Site Status

Aghia Sophia Children's Hospital of Athens

Athens, , Greece

Site Status

Sicilian Epilepsy Network

Catania, , Italy

Site Status

Commissione Genetica Lega Italiana contro l'Epilepssia

Roma, , Italy

Site Status

Hospital Mutua de Terrassa

Barcelona, , Spain

Site Status

Cardiff University School of Medicine

Cardiff, , United Kingdom

Site Status

Guy's and St Thomas' NHS Foundation Trust

London, , United Kingdom

Site Status

King's College Hospital NHS Foundation Trust

London, , United Kingdom

Site Status

Swansea University College of Medicine

Swansea, , United Kingdom

Site Status

Countries

Review the countries where the study has at least one active or historical site.

United States Argentina Canada Greece Italy Spain United Kingdom

Related Links

Access external resources that provide additional context or updates about the study.

http://childhoodepilepsy.org

Childhood Epilepsy website

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

TWF 164-3020

Identifier Type: OTHER_GRANT

Identifier Source: secondary_id

229844

Identifier Type: -

Identifier Source: org_study_id

More Related Trials

Additional clinical trials that may be relevant based on similarity analysis.

Human Epilepsy Project 3
NCT05374928 ACTIVE_NOT_RECRUITING
Study in Pediatric Subjects With Epilepsy
NCT01494584 TERMINATED PHASE2