Ignite Creation Date:
2025-12-25 @ 3:19 AM
Ignite Modification Date:
2026-03-02 @ 10:05 PM
Study NCT ID:
NCT01565005
Status:
COMPLETED
Last Update Posted:
2018-03-02
First Post:
2012-02-29
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Microcephaly Genetic Deficiency in Neural Progenitors
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D008831', 'term': 'Microcephaly'}, {'id': 'D005199', 'term': 'Fanconi Anemia'}], 'ancestors': [{'id': 'D019465', 'term': 'Craniofacial Abnormalities'}, {'id': 'D009139', 'term': 'Musculoskeletal Abnormalities'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D065703', 'term': 'Malformations of Cortical Development, Group I'}, {'id': 'D054220', 'term': 'Malformations of Cortical Development'}, {'id': 'D009421', 'term': 'Nervous System Malformations'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D029502', 'term': 'Anemia, Hypoplastic, Congenital'}, {'id': 'D000741', 'term': 'Anemia, Aplastic'}, {'id': 'D000740', 'term': 'Anemia'}, {'id': 'D006402', 'term': 'Hematologic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}, {'id': 'D000080984', 'term': 'Congenital Bone Marrow Failure Syndromes'}, {'id': 'D000080983', 'term': 'Bone Marrow Failure Disorders'}, {'id': 'D001855', 'term': 'Bone Marrow Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D049914', 'term': 'DNA Repair-Deficiency Disorders'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_CONTROL'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 98}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2013-10', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2018-02', 'completionDateStruct': {'date': '2017-12', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2018-03-01', 'studyFirstSubmitDate': '2012-02-29', 'studyFirstSubmitQcDate': '2012-03-26', 'lastUpdatePostDateStruct': {'date': '2018-03-02', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2012-03-28', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2017-12', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Compare neuroradiological phenotype and cognitive functioning with other MCPH-related patients', 'timeFrame': '3 years', 'description': 'The purpose of this study is to:\n\nCompare neuroradiological phenotype and cognitive functioning of MCPH patients caused by ASPM mutations already characterized and published (Passemard et al. 2009a) with other MCPH-related patients (patients with MCPH1, WDR62, CDK5RAP2, CEP 152, CENPJ, STIL, or PCNT mutations)'}], 'secondaryOutcomes': [{'measure': 'Establish a clear organizational chart for the diagnosis of primary microcephaly', 'timeFrame': '3 years', 'description': "I. Establish a clear organizational chart for the diagnosis of primary microcephaly from the detailed description of the patient's phenotype\n\nII. Establish epidemiological data on the molecular genetic causes involved in human primary microcephaly"}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['MCPH', 'FANCONI ANEMIA'], 'conditions': ['Microcephaly']}, 'referencesModule': {'references': [{'pmid': '40151166', 'type': 'DERIVED', 'citation': 'Gins C, Guimiot F, Drunat S, Prevost C, Rosenblatt J, Capri Y, Letard P, Khung-Savatovsky S, Mahi Henni MA, Elalaoui SC, Alison M, Guilmin Crepon S, Gressens P, Verloes A, Basto R, El Ghouzzi V, Passemard S. Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN Gene. Neurol Genet. 2025 Mar 26;11(2):e200221. doi: 10.1212/NXG.0000000000200221. eCollection 2025 Apr.'}, {'pmid': '35726608', 'type': 'DERIVED', 'citation': 'Ruaud L, Drunat S, Elmaleh-Berges M, Ernault A, Guilmin Crepon S; MCPH Consortium; El Ghouzzi V, Auvin S, Verloes A, Passemard S. Neurological outcome in WDR62 primary microcephaly. Dev Med Child Neurol. 2022 Apr;64(4):509-517. doi: 10.1111/dmcn.15060. Epub 2021 Sep 25.'}, {'pmid': '32015000', 'type': 'DERIVED', 'citation': 'Nasser H, Vera L, Elmaleh-Berges M, Steindl K, Letard P, Teissier N, Ernault A, Guimiot F, Afenjar A, Moutard ML, Heron D, Alembik Y, Momtchilova M, Milani P, Kubis N, Pouvreau N, Zollino M, Guilmin Crepon S, Kaguelidou F, Gressens P, Verloes A, Rauch A, El Ghouzzi V, Drunat S, Passemard S. CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects. J Med Genet. 2020 Jun;57(6):389-399. doi: 10.1136/jmedgenet-2019-106474. Epub 2020 Feb 3.'}]}, 'descriptionModule': {'briefSummary': 'The purpose of this study is to:\n\nI. Compare neuroradiological phenotype and cognitive functioning of MCPH patients caused by ASPM mutations already characterized and published (Passemard et al. 2009a) with other MCPH-related patients (patients with MCPH1, WDR62, CDK5RAP2, CEP 152, CENPJ, STIL, or PCNT mutations)\n\nII. Describe the neuro-radiological and cognitive phenotype of microcephalic patients suffering from Fanconi anemia, and compared them to subjects with:\n\n* Fanconi anemia but normal OFC (head circumference)\n* MCPH patients\n* Healthy control subjects Our hypothesis is that mutations in genes responsible of microcephaly impact differentially cortical brain development and functioning', 'detailedDescription': 'Phenotyping study on 2 different cohorts of rare disease affected patients:\n\n* Group1: MCPH (including different MCPH subtypes)\n* Group2: Fanconi Anemia (with or without microcephaly)\n\nInclusion criteria:\n\nCommon to each group:\n\n* Age \\> 3 years\n* Access to french "Social Security"\n* No contraindication for MRI\n\nGroup1:\n\n* Primary microcephaly without gross malformation within or extra nervous central system\n* OFC \\< -2SD at birth and \\< -3 SD after age 6months\n* Mutation in one MCPH gene\n\nGroup2:\n\nProven Fanconi Anemia with:\n\n* Positive chromosome breakage blood test\n* One of the 3 following elements:\n\nFANCD2 positive test Fibroblast sensitivity to mitomycin Mutation in one FANC gene\n\nControl subjects:\n\n* No antecedent\n* Normal education\n\nAims:\n\n1. Description of neurological, neuropsychological and radiological phenotype for each group\n2. Phenotype comparison:\n\n * groups 1\\&2\n * group1 or 2 with control subjects\n * different MCPH subtypes within group1\n * with or without microcephaly within group2\n3. Epidemiological data on these rare diseases in our population\n\nProtocol:\n\nPatients from both groups and control subjects will be evaluated in CIC for 1 day ½. They will be examined by a child neurologist and a geneticist. All of them will have cranial MRI (1.5Tesla). Neuropsychological assessment will be performed (Wechsler scales) for patients and control subjects.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '3 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Group1:\n\n* Primary microcephaly without gross malformation within or extra nervous central system\n* OFC \\< -2SD at birth and \\< -3 SD after age 6months\n* Mutation in one MCPH gene\n\nGroup2:\n\nProven Fanconi Anemia with:\n\n* Positive chromosome breakage blood test\n* One of the 3 following elements:\n\nFANCD2 positive test Fibroblast sensitivity to mitomycine Mutation in one FANC gene', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\nPatients aged ≥ 3 years:\n\n* Microcephalic phenotype consistent with MCPH (recruitment already done as part of a network GIS-Rare Diseases Institute). MCPH patients have already been selected in the cohort "Robert Debré."\n* Holders of a Fanconi anemia characterized in terms of cytogenetics, enzyme and/or molecular (patients in the cohort "Saint Louis" followed by the KRC rare aplastic anemia)\n* Healthy controls aged ≥ 5 years siblings of patients with Fanconi Anemia\n\nExclusion Criteria:\n\nPatients with Fanconi anemia:\n\n* bone marrow \\< 3 years\n* Post-transplantation neurological complications\n* developmental, genetic or environmental additional pathology'}, 'identificationModule': {'nctId': 'NCT01565005', 'acronym': 'MICROFANC', 'briefTitle': 'Microcephaly Genetic Deficiency in Neural Progenitors', 'organization': {'class': 'OTHER', 'fullName': 'Assistance Publique - Hôpitaux de Paris'}, 'officialTitle': 'Microcephaly Genetic Deficiency in Neural Progenitors: Genotyping, Phenotyping and Functional Neuro-anatomy and Neurobiology Comparative Primitive Microcephaly (MCPH) and the Fanconi Anemia (FA)', 'orgStudyIdInfo': {'id': 'P 100128'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Microcephaly', 'description': 'Microcephaly Intellectual abilities Cranial MRI'}, {'label': 'FANCONI ANEMIA'}]}, 'contactsLocationsModule': {'locations': [{'zip': '75019', 'city': 'Paris', 'country': 'France', 'facility': 'Robert Debre Hospital', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}], 'overallOfficials': [{'name': 'Alain VERLOES, PU-PH', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Assistance Publique - Hôpitaux de Parsi'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Assistance Publique - Hôpitaux de Paris', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}