Ignite Creation Date:
2025-12-24 @ 12:42 PM
Ignite Modification Date:
2025-12-30 @ 3:14 AM
Study NCT ID:
NCT04471961
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2025-09-30
First Post:
2020-07-10
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Analyse of Tumour and Constitutional DNA for the Study of the Determinism in Child Neoplasia
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D009369', 'term': 'Neoplasms'}, {'id': 'D019337', 'term': 'Hematologic Neoplasms'}], 'ancestors': [{'id': 'D009371', 'term': 'Neoplasms by Site'}, {'id': 'D006402', 'term': 'Hematologic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D000073359', 'term': 'Exome Sequencing'}], 'ancestors': [{'id': 'D000073336', 'term': 'Whole Genome Sequencing'}, {'id': 'D017422', 'term': 'Sequence Analysis, DNA'}, {'id': 'D017421', 'term': 'Sequence Analysis'}, {'id': 'D005821', 'term': 'Genetic Techniques'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'PREVENTION', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 100}}, 'statusModule': {'overallStatus': 'ACTIVE_NOT_RECRUITING', 'startDateStruct': {'date': '2020-07-09', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-09', 'completionDateStruct': {'date': '2026-12-31', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-09-26', 'studyFirstSubmitDate': '2020-07-10', 'studyFirstSubmitQcDate': '2020-07-10', 'lastUpdatePostDateStruct': {'date': '2025-09-30', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2020-07-15', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2025-02-12', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': "Identification of genetic variants and confirmation of the causality of these variants for the patient's pathology whole exome sequencing", 'timeFrame': '12 months', 'description': 'A blood sample will be taken from patients and their parents in order to carry out genetic analyses.\n\nNew generation NGS Exome sequencing in trio (patient and 2 healthy parents) on an Illumina HiSeq 2000 platform using the SureSelectXT Human All Exon 50Mb, V5 kit.\n\nBioinformatics analysis of the data. Confirmation of mutations by Sanger sequencing (gold standard).\n\nIn case of identification of mutations in candidate genes confirmed by Sanger sequencing, we will perform functional and clinical-genetic studies.'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': True, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Pediatric oncology', 'Exome based trio', 'Cancer predisposition gene', 'Target therapies', 'Tumor exome', 'Transcriptome'], 'conditions': ['Pediatric Tumor', 'Familial Cancer', 'Solid Tumor, Childhood', 'Hematological Tumor']}, 'descriptionModule': {'briefSummary': 'Background. Cancer is the leading cause of death by disease in children. Most pediatric tumors differ from adult tumors in terms of biological and clinical characteristics. In children, the part of genetic determinism could be higher since the role of environmental factors may be less pronounced than in adults and that a young age at onset is a main feature of genetic cancer predisposition. Recent studies suggested that a number of genetic predisposition remains to be characterized.\n\nMethods. Trio-Based whole exome sequencing of germline DNA from patients (children and adults diagnosed with cancers between 0 and 17 years) and parents will be performed prospectively in a multicentric study including 40 unselected cases of malignant tumor. Participating hospitals will include the CHU of Montpellier, the CHU de Nice and the AP-HP. Tumor analysis will include whole exome analysis and transcriptome for the identification of therapeutic target and contribute to confirm potential link between constitutive mutations and tumor phenotype (such as loss of expression, loss of heterozygosity).\n\nPerspectives. This pediatric oncology study proposing a global approach integrating trio-based whole exome sequencing, somatic DNA and RNA analysis will improve the recognition of genetic predisposition and the characterization of target therapies in children with cancer.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria:\n\n* The patient has a solid or haematological malignancy, either familial forms or isolated cases diagnosed between the ages of 0 and 17 years.\n* The minor patient and both biological parents are available to participate in the study OR\n* The adult patient and one or both parents are available to participate in the study.\n* The patient's parents must have given their free and informed consent and signed the consent for the minor's participation in the study.\n* The patient's parent(s) must have given free and informed consent and the patient of legal age must have signed the consent for participation in the study.\n* The patient must be affiliated or beneficiary of a Frrench social security scheme.\n\nExclusion Criteria:\n\n* The patient's parents are under guardianship or trusteeship or under legal protection Yes No\n* Failure to obtain written informed consent from parents (for themselves and their minor child) after a period of reflection Yes No\n* No affiliation to or beneficiary of a French social security scheme (for biological parents and the patient)"}, 'identificationModule': {'nctId': 'NCT04471961', 'acronym': 'ALADIN', 'briefTitle': 'Analyse of Tumour and Constitutional DNA for the Study of the Determinism in Child Neoplasia', 'organization': {'class': 'OTHER', 'fullName': 'University Hospital, Montpellier'}, 'officialTitle': 'Analyse of Tumour and Constitutional DNA for the Study of the Determinism in Child Neoplasia', 'orgStudyIdInfo': {'id': 'RECHMPL19_0519'}, 'secondaryIdInfos': [{'id': '2020-A0298-31', 'type': 'OTHER', 'domain': 'IDRCB'}]}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'Children with cancer (Proband) with theirs parents', 'interventionNames': ['Genetic: Exome sequencing in pediatrics cancers']}], 'interventions': [{'name': 'Exome sequencing in pediatrics cancers', 'type': 'GENETIC', 'description': 'This pediatric oncology study proposing a global approach integrating trio-based whole exome sequencing, somatic DNA and RNA analysis will improve the recognition of genetic predisposition and the characterization of target therapies in children with cancer.', 'armGroupLabels': ['Children with cancer (Proband) with theirs parents']}]}, 'contactsLocationsModule': {'locations': [{'zip': '34295', 'city': 'Montpellier', 'state': 'Occitanie', 'country': 'France', 'facility': 'CHU Montpellier', 'geoPoint': {'lat': 43.61093, 'lon': 3.87635}}], 'overallOfficials': [{'name': 'Pascal Pujol, PU-PH', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Montpellier University Hospital'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital, Montpellier', 'class': 'OTHER'}, 'collaborators': [{'name': 'Soroptimist association of Monaco', 'class': 'UNKNOWN'}], 'responsibleParty': {'type': 'SPONSOR'}}}}