Ignite Creation Date:
2025-12-24 @ 12:50 PM
Ignite Modification Date:
2026-01-01 @ 2:22 PM
Study NCT ID:
NCT01488461
Status:
COMPLETED
Last Update Posted:
2015-06-15
First Post:
2011-12-06
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'interventionBrowseModule': {'meshes': [{'id': 'D001800', 'term': 'Blood Specimen Collection'}], 'ancestors': [{'id': 'D013048', 'term': 'Specimen Handling'}, {'id': 'D019411', 'term': 'Clinical Laboratory Techniques'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D011677', 'term': 'Punctures'}, {'id': 'D013514', 'term': 'Surgical Procedures, Operative'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Blood sample'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'observationalModel': 'FAMILY_BASED'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 165}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2012-01'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2015-06', 'completionDateStruct': {'date': '2014-10', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2015-06-12', 'studyFirstSubmitDate': '2011-12-06', 'studyFirstSubmitQcDate': '2011-12-06', 'lastUpdatePostDateStruct': {'date': '2015-06-15', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2011-12-08', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2014-10', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Percentage of the patients with a mutation in one of the analysed genes.', 'timeFrame': '1 day'}], 'secondaryOutcomes': [{'measure': 'Percentage of patients with severe/moderate/mild/absent intellectual deficiency', 'timeFrame': '1 day'}, {'measure': 'Percentage of patients with/without epilepsy/spasticity/extraneurological features and nature and frequency of MRI anomalies', 'timeFrame': '1 day'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['Congenital cerebellar ataxias', 'Genetics', 'Gene ATCAY', 'Gene ABC7', 'Cerebellar atrophy'], 'conditions': ['Congenital Cerebellar Ataxias', 'Early-onset Cerebellar Ataxias']}, 'descriptionModule': {'briefSummary': 'Congenital ataxias (CA) are rare, non progressive diseases, characterized by psychomotor retardation, hypotonia followed by ataxia. The presence of the "molar tooth" on MRI allowed to define Joubert syndrome, a peculiar form of CA. Apart from this group, CA are mostly associated with cerebellar atrophy or hypoplasia without molar tooth on MRI. CA are a clinically as well as genetically heterogeneous group of diseases. Early-onset ataxias are progressive but may be difficult to distinguish from CA in the first years of the disease. To date, few genes responsible for CA have been identified: ABC7 (X-linked CA associated with sideroblastic anemia), SLC9A6 (X-linked CA associated with severe mental retardation, autism and epilepsy), GPR56 (CA associated with polymicrogyria), ATCAY (pure CA in Cayman isolate); the involvement of the ATCAY and ABC7 genes has never been assessed in a large cohort of CA patients.\n\nPrimary objective:\n\nTo assess the frequency of mutations of the ATCAY and ABC7 genes in patients affected with non Joubert congenital or early-onset ataxia.\n\nSecondary objective:\n\nTo identify new loci and/or genes responsible for CA To further describe the clinical phenotype of the CA and to assess the frequency of the various clinical types (pure CA/CA associated with spasticity/ syndromic CA, congenital/early-onset CA, sporadic/familial CA).\n\nTo describe the clinical phenotype of CA related to mutations in one of analysed genes.', 'detailedDescription': 'All patients will be examined by a geneticist or a neuropediatric. All clinical data will be collected.\n\nStrategy of the molecular study :\n\n1. for all multiplex and consanguineous families a linkage analysis (loci ATCAY and ABC7 and others AC known genes) will be performed.\n2. For all sporadic patients as well as linked multiplex and consanguineous families : sequencing of all coding exons of the gene ATCAY and others AC known genes.\n3. For all sporadic male patients and linked families : sequencing of all coding exons of the gene ABC7.\n4. For all patients with suggestive features : sequencing of all coding exons of the gene GPR56, VLDLR, NHE6 or other candidate gene.\n5. In consanguineous families : linkage analysis using SNP-array and analysis of candidate genes present in the regions of extended homozygosity\n6. linkage analysis in dominant families and analysis of candidate genes in the linked regions.\n7. If a new AC locus is identified (using linkage or CGH array), this gene will be sequenced in all patients.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'All types', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Patient, child or adult, affected with a congenital or early-onset ataxia defined by:\n* Neurological symptoms observed before age of 2 years.\n* Non progressive cerebellar ataxia observed at the time of examination. Karyotype done or in progress\n\nExclusion Criteria:\n\n* Metabolic disease\n* Specific MRI malformations suggesting a peculiar entity : molar tooth (joubert syndrome), superior vermis dysplasia with cleft (Oligophrenin)\n* Muscle weakness and elevated creatine phosphokinase (CPK)\n* Clearly progressive ataxia.\n* Absence of signature of the informed consent.\n* Absence of affiliation to social security'}, 'identificationModule': {'nctId': 'NCT01488461', 'acronym': 'ATAXIC', 'briefTitle': 'Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias', 'organization': {'class': 'OTHER', 'fullName': 'Assistance Publique - Hôpitaux de Paris'}, 'officialTitle': 'Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias', 'orgStudyIdInfo': {'id': 'NI 08034'}, 'secondaryIdInfos': [{'id': 'AOM 09178', 'type': 'OTHER', 'domain': 'Assistance Publique'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'patients ataxic', 'interventionNames': ['Genetic: blood sample']}], 'interventions': [{'name': 'blood sample', 'type': 'GENETIC', 'description': 'Blood sample will be analysed in order to check presence or not of mutation in ABC7, SLC9A6, GPR56, ATCAY.', 'armGroupLabels': ['patients ataxic']}]}, 'contactsLocationsModule': {'locations': [{'zip': '75012', 'city': 'Paris', 'country': 'France', 'facility': 'Hôpital Trousseau, Service de Génétique', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}], 'overallOfficials': [{'name': 'Lydie Burglen, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Assistance Publique'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Assistance Publique - Hôpitaux de Paris', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}