Ignite Creation Date:
2025-12-24 @ 10:45 PM
Ignite Modification Date:
2026-03-03 @ 2:36 AM
Study NCT ID:
NCT01851135
Status:
COMPLETED
Last Update Posted:
2016-07-06
First Post:
2013-04-24
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Neuropsychological Impairment and Quality of Life in Neurofibromatosis Type 1
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D009456', 'term': 'Neurofibromatosis 1'}], 'ancestors': [{'id': 'D017253', 'term': 'Neurofibromatoses'}, {'id': 'D009455', 'term': 'Neurofibroma'}, {'id': 'D018317', 'term': 'Nerve Sheath Neoplasms'}, {'id': 'D009380', 'term': 'Neoplasms, Nerve Tissue'}, {'id': 'D009370', 'term': 'Neoplasms by Histologic Type'}, {'id': 'D009369', 'term': 'Neoplasms'}, {'id': 'D009386', 'term': 'Neoplastic Syndromes, Hereditary'}, {'id': 'D020752', 'term': 'Neurocutaneous Syndromes'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D020271', 'term': 'Heredodegenerative Disorders, Nervous System'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D010523', 'term': 'Peripheral Nervous System Diseases'}, {'id': 'D009468', 'term': 'Neuromuscular Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D009483', 'term': 'Neuropsychological Tests'}], 'ancestors': [{'id': 'D011581', 'term': 'Psychological Tests'}, {'id': 'D004191', 'term': 'Behavioral Disciplines and Activities'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NON_RANDOMIZED', 'maskingInfo': {'masking': 'NONE'}, 'interventionModel': 'PARALLEL'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 286}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2013-05'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2016-07', 'completionDateStruct': {'date': '2016-04', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2016-07-05', 'studyFirstSubmitDate': '2013-04-24', 'studyFirstSubmitQcDate': '2013-05-07', 'lastUpdatePostDateStruct': {'date': '2016-07-06', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2013-05-10', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2016-04', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Quality of life as measured by the questionnaires used in children and adults', 'timeFrame': 'at day 0 for adults; at 4 weeks for children', 'description': 'Several domains in relation with quality of life (self perception, well-being, social life, emotions, etc.)'}], 'secondaryOutcomes': [{'measure': 'Scores obtained from neuropsychological tests (composite measure)', 'timeFrame': 'at day 0 and 2 weeks for adults; at day 0, 2 weeks and 4 weeks for children', 'description': 'The neuropsychological tests used in this study evaluate different domains: language, visuoperceptive and visuomotor abilities, memory, attention, executive function and intelligence skills.'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['Quality of life', 'Neuropsychological disorders', 'Neurofibromatosis type 1'], 'conditions': ['Neurofibromatosis Type 1']}, 'descriptionModule': {'briefSummary': "The main objective of the study is to investigate the determinants of the quality of life in children and adults with Neurofibromatosis type 1 (NF1) and more particularly the specific impact of neuropsychological deficits. In fact, cognitive impairment is currently considered as one of the most pervasive features of this genetic disorder but its relationship with the worsening of quality of life found in this population has not been directly investigated to date.\n\nSecondary objectives of this study are (i) to compare neuropsychological and quality of life measures between patients and healthy controls matched by age, gender and education level, (ii) to contrast neuropsychological deficits incidence between patients and controls, and (iii) to differentiate NF1 children's self versus hetero-assessment of quality of life.\n\nThe main hypothesis of this study is that the neuropsychological impairment classically identified in this clinical population will be associated to the quality of life's worsening both in children and adults.", 'detailedDescription': 'The study cohort will consist of 150 patients with NF1 (100 adults and 50 children) recruited from the Neurofibromatosis Clinic at the University Hospital in Nantes and Créteil (France). A sample of 150 healthy controls (100 adults and 50 children) will also be recruited from sport and leisure clubs to serve as a normally developing control group.\n\nThe protocol assessment includes a standard and thorough neuropsychological examination specific to children and adults, to investigate the different aspects of cognitive domains: language, visuoperceptive and visuomotor abilities, memory, attention, executive function and intelligence skills. Quality of life is measured by a questionnaire specifically adapted to children and adults.\n\nOther factors linked to the NF1 disease (familial or sporadic form, severity and visibility) and to demographic characteristics (sex, age, education level) will be taken into account to study their respective impact on quality of life, as compared with neuropsychological measures.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '59 Years', 'minimumAge': '8 Years', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria for Patients :\n\n* NF1 diagnosis following National Institutes of Health criteria (1988)\n* Age: 8-12 years for children, 18-59 years for adults\n* Signed informed written consent (parent and patient for children, patient for adults)\n* French speaking\n* Resident in France\n\nInclusion Criteria for Healthy controls:\n\n* Absence of NF1 diagnosis, learning disabilities, intellectual precocity\n* Age: 8-12 years for children, 18-59 years for adults\n* Signed informed written consent (parent and healthy control for children, healthy control for adults)\n* French speaking\n* Resident in France\n\nExclusion Criteria:\n\n* Uncorrectable hearing of visual impairment\n* History of psychiatric illness\n* Neuropsychological investigation in the last 6 months\n* Insufficient language usage\n* Any other known history of central nervous system pathology or neuropathological complications of NF1'}, 'identificationModule': {'nctId': 'NCT01851135', 'acronym': 'NF1-QDV', 'briefTitle': 'Neuropsychological Impairment and Quality of Life in Neurofibromatosis Type 1', 'organization': {'class': 'OTHER', 'fullName': 'Nantes University Hospital'}, 'officialTitle': 'Neuropsychological Impairment and Quality of Life in Neurofibromatosis Type 1', 'orgStudyIdInfo': {'id': 'RC12_0130'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'Patients with NF1', 'interventionNames': ['Other: Neuropsychological examination and quality of life measures']}, {'type': 'OTHER', 'label': 'Healthy controls', 'interventionNames': ['Other: Neuropsychological examination and quality of life measures']}], 'interventions': [{'name': 'Neuropsychological examination and quality of life measures', 'type': 'OTHER', 'armGroupLabels': ['Healthy controls', 'Patients with NF1']}]}, 'contactsLocationsModule': {'locations': [{'zip': '94010', 'city': 'Créteil', 'country': 'France', 'facility': 'Assistance Publique - Hôpitaux de Paris (Hôpital Henri Mondor)', 'geoPoint': {'lat': 48.79266, 'lon': 2.46569}}, {'zip': '44093', 'city': 'Nantes', 'country': 'France', 'facility': 'Centre Hospitalier Universitaire de Nantes', 'geoPoint': {'lat': 47.21725, 'lon': -1.55336}}], 'overallOfficials': [{'name': 'Sébastien Barbarot, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Nantes University Hospital'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Nantes University Hospital', 'class': 'OTHER'}, 'collaborators': [{'name': "Université d'Angers (Angers, France)", 'class': 'UNKNOWN'}, {'name': 'Association Neurofibromatoses et Recklinghaüsen', 'class': 'UNKNOWN'}], 'responsibleParty': {'type': 'SPONSOR'}}}}