Ignite Creation Date:
2025-12-24 @ 3:27 PM
Ignite Modification Date:
2026-01-24 @ 6:20 AM
Study NCT ID:
NCT06380192
Status:
RECRUITING
Last Update Posted:
2025-06-29
First Post:
2024-03-28
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'CASE_CONTROL'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 400}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2024-10-31', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-06', 'completionDateStruct': {'date': '2026-12-31', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-06-25', 'studyFirstSubmitDate': '2024-03-28', 'studyFirstSubmitQcDate': '2024-04-18', 'lastUpdatePostDateStruct': {'date': '2025-06-29', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2024-04-23', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-12-31', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Identification of diagnostic and early predictive biomarkers of a neurodevelopmental trajectory with epileptic and developmental encephalopathies', 'timeFrame': 'Data 2002-2026', 'description': 'This composite outcome includes multiple diagnostic domains (Clinical, biological, radiological, genetic and electroencephalographic variables)'}], 'secondaryOutcomes': [{'measure': 'Identification of patient subgroups presenting the identified biomarkers', 'timeFrame': 'Data 2002-2026', 'description': 'To identify patient subgroups, correlation analyses will be carried out to highlight any common clinical, biological, genetic, radiological and electroencephalographic findings.'}, {'measure': "Assessment of patients' quality of life", 'timeFrame': 'Data 2002-2026', 'description': 'The SF-12 questionnaire is used to assess quality of life.'}, {'measure': 'Assessment of age-related adaptive behavior', 'timeFrame': 'Data 2002-2026', 'description': 'To assess the age of adaptive behavior, the Vineland II scale is the reference test.'}, {'measure': 'Assessment of behavioral disorders', 'timeFrame': 'Data 2002-2026', 'description': 'The CBCL (Child Behaviour Checklist) questionnaire is the reference test for assessing behavioural problems.'}, {'measure': 'Assessment of autism spectrum disorders', 'timeFrame': 'Data 2002-2026', 'description': 'The Social Communication Questionnaire (SCQ) will be used to assess autism spectrum disorders.'}]}, 'oversightModule': {'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Developmental and Epileptic Encephalopathy']}, 'descriptionModule': {'briefSummary': 'Developmental and Epileptic Encephalopathy (DEE) are a heterogeneous group of neurodevelopmental disorders linked to both epilepsy and its underlying etiology, independently of epileptiform activity.\n\nThe creation of a database with retrospective follow-up of a large number of patients on a national scale will enable better knowledge of specific biomarkers, and thus a better classification and understanding of the natural evolution of DEE according to their etiology. This will enable better, more personalized therapeutic management of patients, depending on etiology and the presence or absence of these biomarkers. The investigators will also be able to draw up management recommendations, which are currently non-existent.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patient diagnosed with developmental encephalopathy and epilepsy.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Diagnosis of Developmental and Epileptic Encephalopathy\n* Registered with or benefiting from a social security scheme.\n\nExclusion Criteria:\n\n* Opposition of the patient or his/her parents to the re-use of data in the context of this study\n* Person subject to a safeguard of justice measure'}, 'identificationModule': {'nctId': 'NCT06380192', 'acronym': 'DEE-RETRO', 'briefTitle': 'Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data', 'organization': {'class': 'OTHER', 'fullName': 'Imagine Institute'}, 'officialTitle': 'Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data / DEE-RETRO', 'orgStudyIdInfo': {'id': 'HJ22-DEE-RETRO'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Patient', 'description': 'Patient inclusion criteria:\n\n* Diagnosis of developmental and epileptic encephalopathies\n* Affiliation with, or beneficiary of, a social security scheme\n\nCriteria for non-inclusion of patients:\n\n* Opposition of the patient or his/her parents in the case of minors to the re-use of data for this study.\n* Persons subject to a safeguard of justice measure'}, {'label': 'Control patient', 'description': "Inclusion criteria for controls:\n\n* Patients who, as part of their routine health care, require an EEG examination\n* Patients with sufficient follow-up to rule out a diagnosis of epilepsy, including developmental and epileptic encephalopathies\n* Enrolled in or receiving social security benefits\n\nCriteria for non-inclusion of controls :\n\n* Patient with a neurological or extra-neurological disease that may have an impact on the child's neurological development and outcome\n* Opposition of the patient or his/her parents to the re-use of data for this study\n* Persons subject to a safeguard of justice measure"}]}, 'contactsLocationsModule': {'locations': [{'city': 'Amiens', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'William Szurhaj, Pr', 'role': 'CONTACT', 'email': 'Szurhaj.William@chu-amiens.fr'}, {'name': 'William Szurhaj, Pr', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'CHU Amiens', 'geoPoint': {'lat': 49.9, 'lon': 2.3}}, {'city': 'Angers', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Patrick Van Bogaert, Pr', 'role': 'CONTACT', 'email': 'Patrick.VanBogaert@chu-angers.fr'}, {'name': 'Patrick Van Bogaert, Pr', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'CH Angers', 'geoPoint': {'lat': 47.47156, 'lon': -0.55202}}, {'city': 'Besançon', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Cécilia Altuzala, Dr', 'role': 'CONTACT', 'email': 'Caltuzala@chu-besancon.fr'}, {'name': 'Cécilia Altuzala, Dr', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Chu Besancon', 'geoPoint': {'lat': 47.24878, 'lon': 6.01815}}, {'city': 'Bordeaux', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Frédéric Villéga, Dr', 'role': 'CONTACT', 'email': 'frederic.villega@chu-bordeaux.fr'}, {'name': 'Frédéric Villéga, Dr', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'CHU Bordeaux', 'geoPoint': {'lat': 44.84124, 'lon': -0.58046}}, {'city': 'Brest', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Jérémie Lefranc, Dr', 'role': 'CONTACT', 'email': 'jeremie.lefranc@chu-brest.fr'}, {'name': 'Jérémie Lefranc, Dr', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'CHRU Brest', 'geoPoint': {'lat': 48.39029, 'lon': -4.48628}}, {'city': 'Clermont-Ferrand', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Gaëlle REMERAND, Dr', 'role': 'CONTACT', 'email': 'gremerand@chu-clermontferrand.fr'}, {'name': 'Gaëlle REMERAND, Dr', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'CHU Clermont-Ferrand', 'geoPoint': {'lat': 45.77969, 'lon': 3.08682}}, {'city': 'Grenoble', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Fanny Dubois, Dr', 'role': 'CONTACT', 'email': 'fdubois@chu-grenoble.fr', 'phone': '+33 (0)4 76 76 57 03'}, {'name': 'Fanny Dubois, Dr', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'CHU Grenoble', 'geoPoint': {'lat': 45.17869, 'lon': 5.71479}}, {'city': 'Lille', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Sylvie NGUYEN THE TICH, Pr', 'role': 'CONTACT', 'email': 'sylvie.nguyenthetich@chu-lille.fr'}, {'name': 'Sylvie NGUYEN THE TICH, Pr', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'CHU Lille', 'geoPoint': {'lat': 50.63391, 'lon': 3.05512}}, {'city': 'Limoges', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Cécile Laroche, Dr', 'role': 'CONTACT', 'email': 'Cecile.laroche@chu-limoges.fr'}, {'name': 'Cécile Laroche, Dr', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'CHU Limoges', 'geoPoint': {'lat': 45.83362, 'lon': 1.24759}}, {'city': 'Lyon', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Dorothee Ville, Dr', 'role': 'CONTACT', 'email': 'dorothee.ville@chu-lyon.fr'}, {'name': 'Dorothee Ville, Dr', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'CHU Lyon HCL', 'geoPoint': {'lat': 45.74906, 'lon': 4.84789}}, {'city': 'Marseille', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Mathieu Milh, Pr', 'role': 'CONTACT', 'email': 'Mathieu.MILH@ap-hm.fr'}, {'name': 'Mathieu Milh, Pr', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Assistance Publique Hopitaux de Marseille', 'geoPoint': {'lat': 43.29695, 'lon': 5.38107}}, {'city': 'Nancy', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Mathieu Kuchenbuch, Dr', 'role': 'CONTACT', 'email': 'm.kuchenbuch@chru-nancy.fr'}, {'name': 'Mathieu Kuchenbuch, Dr', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'CHU de Nancy', 'geoPoint': {'lat': 48.68439, 'lon': 6.18496}}, {'city': 'Nice', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Julien NEVEU, Dr', 'role': 'CONTACT', 'email': 'julien.neveu@hpu.lenval.com', 'phone': '+33 (0)4 92 03 03 92'}, {'name': 'Julien NEUVEU, Dr', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Hopitaux Pediatriques de Nice CHU Lenval', 'geoPoint': {'lat': 43.70313, 'lon': 7.26608}}, {'zip': '75015', 'city': 'Paris', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Rima Nabbout, Pr', 'role': 'CONTACT', 'email': 'rima.nabbout@aphp.fr', 'phone': '+33 (0)1 44381536'}, {'name': 'Rima Nabbout, Pr', 'role': 'PRINCIPAL_INVESTIGATOR'}, {'name': 'Anna Kaminska, Pr', 'role': 'SUB_INVESTIGATOR'}, {'name': 'Nathalie Boddaert, Pr', 'role': 'SUB_INVESTIGATOR'}, {'name': 'Nicole Chemaly Perin, Dr', 'role': 'SUB_INVESTIGATOR'}], 'facility': 'Necker-Enfants Malades Hospital', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'city': 'Paris', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Vincent Navarro, Pr', 'role': 'CONTACT', 'email': 'Vincent.navarro@aphp.fr'}, {'name': 'Vincent Navarro, Pr', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'CHU Pitié Salpétrière', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'city': 'Paris', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Stephane Auvin, Pr', 'role': 'CONTACT', 'email': 'Stephane.auvin@aphp.fr'}, {'name': 'Stephane Auvin, Pr', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'CHU Robert Debré', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'city': 'Paris', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Cyril MIGNOT, Dr', 'role': 'CONTACT', 'email': 'cyril.mignot@aphp.fr'}, {'name': 'Cyril MIGNOT, Dr', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Hôpital Armand Trousseau', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'city': 'Reims', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Melanie JENNESSON, Dr', 'role': 'CONTACT', 'email': 'mjennesson-lyver@chu-reims.fr'}, {'name': 'Melanie JENNESSON, Dr', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Chu Reims', 'geoPoint': {'lat': 49.26526, 'lon': 4.02853}}, {'city': 'Rennes', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Sylvia Napuri-peirano, Dr', 'role': 'CONTACT', 'email': 'Silviaadriana.NAPURI.PEIRANO@chu-rennes.fr'}, {'name': 'Sylvia Napuri-peirano, Dr', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'CHU Rennes', 'geoPoint': {'lat': 48.11109, 'lon': -1.67431}}, {'city': 'Strasbourg', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Anne De Saint Martin, Dr', 'role': 'CONTACT', 'email': 'anne.desaintmartin@chru-strasbourg.fr', 'phone': '+33 (0)3 88 12 83 98'}, {'name': 'Anne De Saint Martin, Dr', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'CHU Strasbourg', 'geoPoint': {'lat': 48.58392, 'lon': 7.74553}}, {'city': 'Toulouse', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Caroline HACHON-LE CAMUS, Dr', 'role': 'CONTACT', 'email': 'hachonlecamus.c@chu-toulouse.fr'}, {'name': 'Caroline HACHON-LE CAMUS, Dr', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'CHU Toulouse', 'geoPoint': {'lat': 43.60426, 'lon': 1.44367}}, {'city': 'Tours', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Maximilien PERIVIER, Dr', 'role': 'CONTACT', 'email': 'm.perivier@chu-tours.fr'}, {'name': 'Maximilien PERVIER, Dr', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'CHRU Tours', 'geoPoint': {'lat': 47.39484, 'lon': 0.70398}}, {'city': 'Versailles', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Samer WEHBI, Dr', 'role': 'CONTACT', 'email': 'swehbi@ch-versailles.fr'}, {'name': 'Samer WEHBI, Dr', 'role': 'PRINCIPAL_INVESTIGATOR'}, {'name': 'Geoffoy DELPLANCQ, Dr', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Hôpital André Mignot (CH Versailles)', 'geoPoint': {'lat': 48.80359, 'lon': 2.13424}}], 'centralContacts': [{'name': 'Rima Nabbout, Pr', 'role': 'CONTACT', 'email': 'rima.nabbout@aphp.fr', 'phone': '+33144381536'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Imagine Institute', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}