Ignite Creation Date:
2025-12-25 @ 12:31 AM
Ignite Modification Date:
2026-02-20 @ 6:36 PM
Study NCT ID:
NCT02830867
Status:
UNKNOWN
Last Update Posted:
2018-01-10
First Post:
2016-06-17
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Review of French Cases of Glutathione Synthetase Deficiency
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'C536835', 'term': 'Glutathione synthetase deficiency'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 100}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2016-07', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2016-01', 'completionDateStruct': {'date': '2018-10', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2018-01-08', 'studyFirstSubmitDate': '2016-06-17', 'studyFirstSubmitQcDate': '2016-07-08', 'lastUpdatePostDateStruct': {'date': '2018-01-10', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2016-07-13', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2018-10', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Immunologically determining human acid glutathione S-transferase in a human assay sample', 'timeFrame': '1 hour after hospitalization'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['glutathione', 'glutathione synthetase deficiency', 'autosomal inheritance', 'recessive'], 'conditions': ['The Glutathione Synthetase Deficiency']}, 'descriptionModule': {'briefSummary': 'The glutathione synthetase deficiency, inborn error of metabolism of autosomal recessive inheritance, is a rare disease (70 patients described in the world). The outcome of these patients and potential complications of this disease are not, to date, yet all known and described.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'All patients followed in the French hospital centers the diagnosis of glutathione synthetase deficiency has been proven by assay of residual enzyme activity or identifying a mutation of the glutathione synthetase gene', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion criteria:\n\n* All patients followed in the French hospital centers the diagnosis of glutathione synthetase deficiency has been proven by assay of residual enzyme activity or identifying a mutation of the glutathione synthetase gene\n\nExclusion criteria:\n\n* No formal proof of glutathione synthetase deficiency'}, 'identificationModule': {'nctId': 'NCT02830867', 'briefTitle': 'Review of French Cases of Glutathione Synthetase Deficiency', 'organization': {'class': 'OTHER', 'fullName': 'University Hospital, Strasbourg, France'}, 'orgStudyIdInfo': {'id': '6245'}}, 'contactsLocationsModule': {'locations': [{'zip': '67091', 'city': 'Strasbourg', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Didier EYER, MD', 'role': 'CONTACT', 'email': 'didier.eyer@chru-strasbourg.fr'}, {'name': 'Claire BANSEPT, MD', 'role': 'CONTACT', 'email': 'cbansept@hotmail.com'}, {'name': 'Didier EYER, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}, {'name': 'Claire BANSEPT, MD', 'role': 'SUB_INVESTIGATOR'}], 'facility': "Service D'Urgences Medicales Pediatriques", 'geoPoint': {'lat': 48.58392, 'lon': 7.74553}}], 'centralContacts': [{'name': 'Didier EYER, MD', 'role': 'CONTACT', 'email': 'didier.eyer@chru-strasbourg.fr', 'phone': '33 (0)3.88.12.81.18'}, {'name': 'Claire BANSEPT', 'role': 'CONTACT', 'email': 'claire.bansept@chru-strasbourg.fr', 'phone': '33 (0)3.88.12.77.57'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital, Strasbourg, France', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}