Ignite Creation Date:
2025-12-24 @ 4:47 PM
Ignite Modification Date:
2026-01-02 @ 8:37 AM
Study NCT ID:
NCT03547050
Status:
COMPLETED
Last Update Posted:
2023-10-06
First Post:
2018-05-24
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Rolandic Epilepsy Genomewide Association International Study
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D019305', 'term': 'Epilepsy, Rolandic'}, {'id': 'D004827', 'term': 'Epilepsy'}], 'ancestors': [{'id': 'D004828', 'term': 'Epilepsies, Partial'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D000073376', 'term': 'Epileptic Syndromes'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D001800', 'term': 'Blood Specimen Collection'}], 'ancestors': [{'id': 'D013048', 'term': 'Specimen Handling'}, {'id': 'D019411', 'term': 'Clinical Laboratory Techniques'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D011677', 'term': 'Punctures'}, {'id': 'D013514', 'term': 'Surgical Procedures, Operative'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Whole blood'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'OTHER', 'observationalModel': 'CASE_CONTROL'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 210}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2018-06-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-03', 'completionDateStruct': {'date': '2023-06-30', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2023-10-05', 'studyFirstSubmitDate': '2018-05-24', 'studyFirstSubmitQcDate': '2018-05-24', 'lastUpdatePostDateStruct': {'date': '2023-10-06', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2018-06-06', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2023-03-17', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Allelic association p value corrected for genome wide testing', 'timeFrame': 'Day 1', 'description': '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.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Epilepsy', 'Rolandic', 'Genetics', 'Genomewide Association Study', 'RE', 'Neurology', 'Pediatrics'], 'conditions': ['Rolandic Epilepsy']}, 'referencesModule': {'seeAlsoLinks': [{'url': 'http://childhoodepilepsy.org', 'label': 'Childhood Epilepsy website'}]}, 'descriptionModule': {'briefSummary': '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.', 'detailedDescription': '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.\n\nWe 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.\n\nWe 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.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '25 Years', 'minimumAge': '6 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Target population is 3,000 participants with a diagnosis of Rolandic Epilepsy (1,000 UK).', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n1. Diagnosis of Rolandic Epilepsy in accordance with the following international criteria:\n\n * Age of first afebrile seizure 3-12 years\n * Seizures comprising focal sensorimotor seizures affecting the vocal tract and face, with or without involvement of the arm\n * Predominant sleep-related seizures\n * EEG interictal centro-temporal spikes with normal background\n2. Current age 6-25 years\n\nExclusion Criteria:\n\n1. No history of focal seizure\n2. Normal EEG or abnormal background features on EEG\n3. Known structural causes (stroke, tuberous sclerosis, infection, post-infectious or metabolic)\n4. Primary diagnosis of autism or global learning disability\n5. Focal central neurological deficit on clinical exam,\n6. Unable to provide informed consent\n7. Unable to provide blood sample'}, 'identificationModule': {'nctId': 'NCT03547050', 'acronym': 'REGAIN', 'briefTitle': 'Rolandic Epilepsy Genomewide Association International Study', 'organization': {'class': 'OTHER', 'fullName': "King's College London"}, 'officialTitle': 'Rolandic Epilepsy Genomewide Association International Study', 'orgStudyIdInfo': {'id': '229844'}, 'secondaryIdInfos': [{'id': 'TWF 164-3020', 'type': 'OTHER_GRANT', 'domain': 'The Waterloo Foundation'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'Patients diagnosed with RE', 'description': 'People who meet the eligibility requirements and have been diagnosed with rolandic epilepsy.', 'interventionNames': ['Other: Blood draw']}, {'label': 'Controls', 'description': 'People without a lifetime history of seizures.', 'interventionNames': ['Other: Existing samples']}], 'interventions': [{'name': 'Blood draw', 'type': 'OTHER', 'description': '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.', 'armGroupLabels': ['Patients diagnosed with RE']}, {'name': 'Existing samples', 'type': 'OTHER', 'description': 'Control DNA samples will be used that have been previously acquired in other studies.', 'armGroupLabels': ['Controls']}]}, 'contactsLocationsModule': {'locations': [{'zip': '10032', 'city': 'New York', 'state': 'New York', 'country': 'United States', 'facility': 'Columbia University Medical Center', 'geoPoint': {'lat': 40.71427, 'lon': -74.00597}}, {'zip': '02903', 'city': 'Providence', 'state': 'Rhode Island', 'country': 'United States', 'facility': "Hasbro Children's Hospital", 'geoPoint': {'lat': 41.82399, 'lon': -71.41283}}, {'zip': '98105', 'city': 'Seattle', 'state': 'Washington', 'country': 'United States', 'facility': "Seattle Children's Hospital", 'geoPoint': {'lat': 47.60621, 'lon': -122.33207}}, {'zip': 'C 1245', 'city': 'Buenos Aires', 'country': 'Argentina', 'facility': "Dr. Juan P. Garrahan Children's Hospital", 'geoPoint': {'lat': -34.61315, 'lon': -58.37723}}, {'zip': 'M5G 0A4', 'city': 'Toronto', 'state': 'Ontario', 'country': 'Canada', 'facility': 'Hospital for Sick Kids', 'geoPoint': {'lat': 43.70643, 'lon': -79.39864}}, {'zip': '115 27', 'city': 'Athens', 'country': 'Greece', 'facility': "Aghia Sophia Children's Hospital of Athens", 'geoPoint': {'lat': 37.98376, 'lon': 23.72784}}, {'zip': '95124', 'city': 'Catania', 'country': 'Italy', 'facility': 'Sicilian Epilepsy Network', 'geoPoint': {'lat': 37.49223, 'lon': 15.07041}}, {'zip': '00198', 'city': 'Roma', 'country': 'Italy', 'facility': "Commissione Genetica Lega Italiana contro l'Epilepssia", 'geoPoint': {'lat': 44.99364, 'lon': 11.10642}}, {'zip': '08221', 'city': 'Barcelona', 'country': 'Spain', 'facility': 'Hospital Mutua de Terrassa', 'geoPoint': {'lat': 41.38879, 'lon': 2.15899}}, {'zip': 'CF14 4XN', 'city': 'Cardiff', 'country': 'United Kingdom', 'facility': 'Cardiff University School of Medicine', 'geoPoint': {'lat': 51.48, 'lon': -3.18}}, {'zip': 'SE1 9HT', 'city': 'London', 'country': 'United Kingdom', 'facility': "Guy's and St Thomas' NHS Foundation Trust", 'geoPoint': {'lat': 51.50853, 'lon': -0.12574}}, {'zip': 'SE5 8RX', 'city': 'London', 'country': 'United Kingdom', 'facility': "King's College Hospital NHS Foundation Trust", 'geoPoint': {'lat': 51.50853, 'lon': -0.12574}}, {'zip': 'SA2 8PP', 'city': 'Swansea', 'country': 'United Kingdom', 'facility': 'Swansea University College of Medicine', 'geoPoint': {'lat': 51.62079, 'lon': -3.94323}}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': "King's College London", 'class': 'OTHER'}, 'collaborators': [{'name': "King's College Hospital NHS Trust", 'class': 'OTHER'}, {'name': "Guy's and St Thomas' NHS Foundation Trust", 'class': 'OTHER'}, {'name': 'Cardiff University', 'class': 'OTHER'}, {'name': 'The Hospital for Sick Children', 'class': 'OTHER'}, {'name': 'Hospital JP Garrahan', 'class': 'OTHER_GOV'}, {'name': "Aghia Sophia Children's Hospital of Athens", 'class': 'OTHER'}, {'name': 'Hospital Mutua de Terrassa', 'class': 'OTHER'}, {'name': "Seattle Children's Hospital", 'class': 'OTHER'}, {'name': "Hasbro Children's Hospital", 'class': 'OTHER'}, {'name': 'Columbia University', 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR'}}}}