Ignite Creation Date:
2025-12-24 @ 10:13 PM
Ignite Modification Date:
2025-12-28 @ 7:23 AM
Study NCT ID:
NCT04802135
Status:
RECRUITING
Last Update Posted:
2025-11-20
First Post:
2021-03-14
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Creation of a Register of Patients With Neonatal-onset Epileptic Encephalopathy
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D004827', 'term': 'Epilepsy'}], 'ancestors': [{'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D011795', 'term': 'Surveys and Questionnaires'}], 'ancestors': [{'id': 'D003625', 'term': 'Data Collection'}, {'id': 'D004812', 'term': 'Epidemiologic Methods'}, {'id': 'D008919', 'term': 'Investigative Techniques'}, {'id': 'D017531', 'term': 'Health Care Evaluation Mechanisms'}, {'id': 'D011787', 'term': 'Quality of Health Care'}, {'id': 'D017530', 'term': 'Health Care Quality, Access, and Evaluation'}, {'id': 'D011634', 'term': 'Public Health'}, {'id': 'D004778', 'term': 'Environment and Public Health'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'OTHER', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 200}, 'targetDuration': '3 Years', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2021-03-06', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-11', 'completionDateStruct': {'date': '2032-09', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-11-17', 'studyFirstSubmitDate': '2021-03-14', 'studyFirstSubmitQcDate': '2021-03-14', 'lastUpdatePostDateStruct': {'date': '2025-11-20', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2021-03-17', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2029-09', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'importance of the developmental disorder', 'timeFrame': 'Month 36', 'description': 'Developmental quotient'}, {'measure': 'definition of the active phase of epilepsy', 'timeFrame': 'Month 36', 'description': 'Presence of at least monthly seizures and interictal EEG showing paroxysmal abnormalities'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['EOEE', 'epilepsy', 'KCNQ2'], 'conditions': ['Epileptic Encephalopathy']}, 'descriptionModule': {'briefSummary': 'Electrical activity emerges in the third trimester of pregnancy, plays an important role in the construction of cortical maps, and is impaired in patients with severe early epileptic encephalopathies (EOEE). EOEE are rare and severe epileptic syndromes characterized by epilepsy that begins within the first three months of life and is associated with rapid deterioration of motor, cognitive and behavioral skills.\n\nThere is a genetic basis for the EOEE. Together with other laboratories, the investigators have identified de novo pathogenic variants in the KCNQ2 gene encoding the Kv7.2 subunit of the Kv7 / M potassium channel, a channel known to control neuronal excitability in the brain and spinal cord. via the current M (IM). Pathogenic variants of the KCNQ2 gene represent the main cause of EOEE and the term KCNQ2-related epileptic encephalopathy (KCNQ2-REE) is now used to define this condition.\n\nKCNQ2-REE patients have a remarkably homogeneous phenotype at the start, with epilepsy that begins in the first days after birth, seizures that result in tonic muscle spasms that last from 1 to 10 seconds, and an interictal EEG called "suppression-burst". "That is, paroxysmal bursts of activity interspersed with periods of electrical silence. In this group, more than 50% of the patients present a remission of the epilepsy and a quasi-normalization of the EEG which can occur a few weeks to several months after the onset of the seizures. Despite this positive evolution in terms of seizures, the developmental progression is abnormal and the phenotype is severe with an absence of language, autistic behavior and a subsequent development of motor disorders such as diplegia, spasticity, ataxia or dystonia.\n\nThe ambition of this project is to increase knowledge of epileptic encephalopathies linked to KCNQ2 at the clinical and molecular levels, to decipher the pathophysiological mechanisms and to propose therapeutic strategies.\n\nThis project aims to better describe the clinical, EEG, imaging, developmental and long-term follow-up characteristics of patients carrying the KCNQ2 mutation identified in the laboratory.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Retrospective observational study initially then prospective with inclusion of all patients with a KCNQ2-REE whose diagnosis was made in the EPIGENE network', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Epilepsy beginning before 1 month of life, and requiring the initiation of anti-epileptic treatment\n* Without occasional cause\n* Without brain malformation explaining epilepsy\n* No opposition from parents / guardians\n* Possibility for parents to complete parent questionnaires\n\nExclusion Criteria:\n\n* Neonatal attacks of occasional cause (glycemic disorder, infection, etc.)\n* Acquired neonatal epilepsy (post-anoxic encephalopathy, stroke sequelae, etc.)\n* Neonatal epilepsy related to a brain malformation'}, 'identificationModule': {'nctId': 'NCT04802135', 'acronym': 'IMPROVE', 'briefTitle': 'Creation of a Register of Patients With Neonatal-onset Epileptic Encephalopathy', 'organization': {'class': 'OTHER', 'fullName': 'Assistance Publique Hopitaux De Marseille'}, 'officialTitle': 'Creation of a Register of Patients With Neonatal-onset Epileptic Encephalopathy', 'orgStudyIdInfo': {'id': '2019-51'}, 'secondaryIdInfos': [{'id': 'ID-RCB', 'type': 'OTHER', 'domain': '2020-A01363-36'}]}, 'armsInterventionsModule': {'interventions': [{'name': 'Survey', 'type': 'OTHER', 'description': 'directive questionnaire administered during an individual face-to-face interview'}]}, 'contactsLocationsModule': {'locations': [{'city': 'Angers', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Patrick Van Bogaert', 'role': 'CONTACT'}], 'facility': 'CHU Angers', 'geoPoint': {'lat': 47.47156, 'lon': -0.55202}}, {'city': 'Bordeaux', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Jean-Michel Pedespan', 'role': 'CONTACT'}], 'facility': 'CHU Bordeaux', 'geoPoint': {'lat': 44.84124, 'lon': -0.58046}}, {'city': 'Brest', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Jérémie Lefranc', 'role': 'CONTACT'}], 'facility': 'CHU Brest', 'geoPoint': {'lat': 48.39029, 'lon': -4.48628}}, {'city': 'Lille', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Sylvie Nguyen', 'role': 'CONTACT'}], 'facility': 'CHRU Lille', 'geoPoint': {'lat': 50.63391, 'lon': 3.05512}}, {'city': 'Limoges', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Cécile Laroche', 'role': 'CONTACT'}], 'facility': 'CHU Limoges', 'geoPoint': {'lat': 45.83362, 'lon': 1.24759}}, {'city': 'Lyon', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Gaetan Lesca', 'role': 'CONTACT'}, {'name': 'Dorthée Ville', 'role': 'SUB_INVESTIGATOR'}], 'facility': 'Hospices Civils Lyon', 'geoPoint': {'lat': 45.74906, 'lon': 4.84789}}, {'zip': '13005', 'city': 'Marseille', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Mathieu Milh', 'role': 'CONTACT', 'email': 'mathieu.milh@ap-hm.fr', 'phone': '0491322903', 'phoneExt': '33'}], 'facility': 'Hôpital La Timone', 'geoPoint': {'lat': 43.29695, 'lon': 5.38107}}, {'city': 'Montpellier', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Agathe Roubertie', 'role': 'CONTACT'}], 'facility': 'CHU Montpellier', 'geoPoint': {'lat': 43.61093, 'lon': 3.87635}}, {'city': 'Paris', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Cyril Mignot', 'role': 'CONTACT'}], 'facility': 'APHP Pitié Salpêtrière', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'city': 'Paris', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Stéphane Auvin', 'role': 'CONTACT'}], 'facility': 'APHP Robert Debré', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'city': 'Paris', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Rima Nabbout', 'role': 'CONTACT', 'email': 'rima.nabbout@ap-hm.fr'}], 'facility': 'Hôpital Necker', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'city': 'Rennes', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Sylvia Napuri', 'role': 'CONTACT'}], 'facility': 'CHU Rennes', 'geoPoint': {'lat': 48.11109, 'lon': -1.67431}}, {'city': 'Strasbourg', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Anne De Saint Martin', 'role': 'CONTACT'}], 'facility': 'CHRU Strasbourg', 'geoPoint': {'lat': 48.58392, 'lon': 7.74553}}, {'city': 'Toulouse', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Claude Cances', 'role': 'CONTACT'}], 'facility': 'CHU Toulouse', 'geoPoint': {'lat': 43.60426, 'lon': 1.44367}}, {'city': 'Tours', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Marie-Anne Barthez', 'role': 'CONTACT'}], 'facility': 'CHU Tours', 'geoPoint': {'lat': 47.39484, 'lon': 0.70398}}], 'centralContacts': [{'name': 'Mathieu Milh', 'role': 'CONTACT', 'email': 'mathieu.milh@ap-hm.fr', 'phone': '0491322903', 'phoneExt': '33'}], 'overallOfficials': [{'name': 'Jean Olivier Arnaud', 'role': 'STUDY_DIRECTOR', 'affiliation': 'Assistance Publique - Hôpitaux de Marseille'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Assistance Publique Hopitaux De Marseille', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}