Ignite Creation Date:
2025-12-24 @ 11:41 PM
Ignite Modification Date:
2025-12-25 @ 9:32 PM
Study NCT ID:
NCT03889951
Status:
UNKNOWN
Last Update Posted:
2019-03-26
First Post:
2019-02-28
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Detection of IKZF1 Deletion Mutation in Patients With Acute Lymphoblastic Leukemia and Its Impact in Therapy
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D054198', 'term': 'Precursor Cell Lymphoblastic Leukemia-Lymphoma'}], 'ancestors': [{'id': 'D007945', 'term': 'Leukemia, Lymphoid'}, {'id': 'D007938', 'term': 'Leukemia'}, {'id': 'D009370', 'term': 'Neoplasms by Histologic Type'}, {'id': 'D009369', 'term': 'Neoplasms'}, {'id': 'D006402', 'term': 'Hematologic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}, {'id': 'D008232', 'term': 'Lymphoproliferative Disorders'}, {'id': 'D008206', 'term': 'Lymphatic Diseases'}, {'id': 'D007160', 'term': 'Immunoproliferative Disorders'}, {'id': 'D007154', 'term': 'Immune System Diseases'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 50}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'NOT_YET_RECRUITING', 'startDateStruct': {'date': '2019-04', 'type': 'ESTIMATED'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2019-03', 'completionDateStruct': {'date': '2020-05', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2019-03-25', 'studyFirstSubmitDate': '2019-02-28', 'studyFirstSubmitQcDate': '2019-03-25', 'lastUpdatePostDateStruct': {'date': '2019-03-26', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2019-03-26', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2020-04', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'detection of IKZF-1 deletion mutations in patients with ALL.', 'timeFrame': 'baseline', 'description': 'detection of IKZF1 deletion mutation by fluorescent inset hybridization and by PCR.'}, {'measure': 'Detection of BCR-ABL translocation.', 'timeFrame': 'baseline', 'description': 'by PCR'}]}, 'oversightModule': {'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['ALL, Childhood']}, 'descriptionModule': {'briefSummary': '1. To detect IKZF-1 deletion mutations in patients with ALL.\n2. To study the impact of IKZF-1 deletion mutation on therapy of ALL.\n3. To study the correlation between IKZF-1 deletion mutations and BCR-ABL.', 'detailedDescription': 'Acute lymphoblastic leukemia (ALL) a malignant transformation and proliferation of lymphoid progenitor cells in the bone marrow, blood and extramedullary sites. While 80% of ALL occurs in children, it represents a devastating disease when it occurs in adults . predisposing factors include exposure to ionizing radiation, pesticides, certain solvents or viruses such as Epstein-Barr Virus and Human Immunodeficiency Virus. However, in the majority of cases, it appears as a de novo malignancy in previously healthy individuals. Chromosomal aberrations are the hallmark of ALL, but are not sufficient to generate leukemia. Characteristic translocations include t(12;21) \\[ETV6-RUNX1\\], t(1;19) \\[TCF3-PBX1\\], t(9;22) \\[BCR-ABL1\\] . More recently, a variant with a similar gene expression profile to (Philadelphia) Ph-positive ALL but without the BCR-ABL1 rearrangement has been identified. In more than 80% of cases of this so-called Ph-like ALL, the variant possesses deletions in key transcription factors involved in B-cell development including IKAROS family zinc finger 1 (IKZF1) . IKZF1 codes Ikaros, which is a member of a family of zinc- finger nuclear proteins that is required for the earliest stages of lymphoid lineage commitment and acts as tumor suppressor. Most IKZF1 mutations (94%) are deletion mutations, and there are rare point mutations resulting in loss of function of Ikaros .\n\nThere are two major deletions occur in the IKZF1 gene:\n\n* The first one was characterized by loss of exons 4 to 7 ( 4-7) with breakpoints occurring in introns 3 and 7 on chromosome 7p12.\n* The second deletion involved exons 2 to 7 ( 2-7) with a variable pattern of breakpoints in intron 1 and intron 7 in the same region as those of the 4-7 deletion.\n\nIKZF1 mutations in cases of B-ALL are associated with poor prognosis and high risk of relapse. IKZF1 mutations are found in approximately 15% to 20% of pediatric B-ALL cases and in \\>75% of pediatric BCR-ABL positive ALL cases. The incidences of IKZF1 mutations in adults are approximately 50% in B-ALL cases and approximately 65% in BCR-ABL positive ALL cases .\n\nThe presence of either IKZF1 mutation or BCR- ABL has been reported to be an independent risk factor of poor prognosis for patients with B-ALL .'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'maximumAge': '70 Years', 'minimumAge': '1 Year', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'patients newly diagnosed with acute lymphoblastic leukemia age ranged from 1 year to 70 years.', 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Patients with acute lymphoblastic leukemia.\n\nExclusion Criteria:\n\n* patients with any other hematological malignancies.\n* patients receiving chemotherapy.'}, 'identificationModule': {'nctId': 'NCT03889951', 'briefTitle': 'Detection of IKZF1 Deletion Mutation in Patients With Acute Lymphoblastic Leukemia and Its Impact in Therapy', 'organization': {'class': 'OTHER', 'fullName': 'Assiut University'}, 'officialTitle': 'Detection of IKZF1 Deletion Mutation in Patients With Acute Lymphoblastic Leukemia and Its Impact in Therapy', 'orgStudyIdInfo': {'id': 'ikzf1 in all'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'group 1', 'description': 'group of ALL patients with IKZF1 deletion mutation.'}, {'label': 'group 2', 'description': 'group of ALL patients with no detected mutation'}]}, 'contactsLocationsModule': {'centralContacts': [{'name': 'yasmin elgammal, Mac', 'role': 'CONTACT', 'email': 'yasminelgammal@hotmail.com', 'phone': '01015688222'}, {'name': 'alaa abdelkader, MD', 'role': 'CONTACT', 'email': 'dr_alaa57@yahoo.com'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Assiut University', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'principal investigator', 'investigatorFullName': 'Yasmin Tarek Elgammal', 'investigatorAffiliation': 'Assiut University'}}}}