Ignite Creation Date:
2025-12-24 @ 11:14 PM
Ignite Modification Date:
2026-01-02 @ 4:35 AM
Study NCT ID:
NCT04918056
Status:
UNKNOWN
Last Update Posted:
2021-06-11
First Post:
2021-06-03
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Genetic Variants Affecting the Clinical Severity of Beta Thalassemia
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D017086', 'term': 'beta-Thalassemia'}], 'ancestors': [{'id': 'D013789', 'term': 'Thalassemia'}, {'id': 'D000745', 'term': 'Anemia, Hemolytic, Congenital'}, {'id': 'D000743', 'term': 'Anemia, Hemolytic'}, {'id': 'D000740', 'term': 'Anemia'}, {'id': 'D006402', 'term': 'Hematologic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}, {'id': 'D006453', 'term': 'Hemoglobinopathies'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 1300}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2017-01-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2021-05', 'completionDateStruct': {'date': '2023-06-25', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2021-06-08', 'studyFirstSubmitDate': '2021-06-03', 'studyFirstSubmitQcDate': '2021-06-07', 'lastUpdatePostDateStruct': {'date': '2021-06-11', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2021-06-08', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2022-01-11', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Genetic variants which could influence the phenotype of beta thalassemia', 'timeFrame': '1 year', 'description': 'Identified a group of single-nucleotide polymorphisms (SNPs) that contribute to β-thalassemia'}]}, 'oversightModule': {'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['beta thalassemia', 'Hb F', 'Onset age', 'Genetic Modifier'], 'conditions': ['Beta Thalassemia']}, 'descriptionModule': {'briefSummary': 'β-thalassemia is one of the most common single gene disorder in Southern China. The phenotypic severity of beta thalassemia widely varies from mild to severe forms. Patients with the same beta thalassemia genotype show wide phenotypic variability that ranges from moderate to severe disease due to various genetic modifiers of disease severity. The aim of this study is to looking for the genetic factors which could affect the severity of beta thalassemia.', 'detailedDescription': 'The understanding of the genotype-phenotype correlation is a very important issue to the precise diagnosis of beta thalassemia. However, the genotype-phenotype correlation of Beta thalassemia is so complex that the pathogenesis of some patients remains uncertain and cannot be explained by known mechanisms. The study of the role of the genetic variants in modulating beta thalassemia phenotype could brought us considerable novel and interesting information in this area. We will collecting more than 1000 beta thalassemia patients , analyzing their clinical data and genome data, and association study will be conducted to screen the positive genetic variants which exert a significant effect on both the HbF levels and onset ages of beta thalassemia patients.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'beta thalassemia patients from Southern China.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Diagnosed with β-thalassemia\n\nExclusion Criteria:\n\n* Iron Deficiency Anemia'}, 'identificationModule': {'nctId': 'NCT04918056', 'briefTitle': 'Genetic Variants Affecting the Clinical Severity of Beta Thalassemia', 'organization': {'class': 'OTHER', 'fullName': 'Nanfang Hospital, Southern Medical University'}, 'officialTitle': 'Screening and Identification of Genetic Modifiers Which Affecting the Phenotype Severity of Beta Thalassemia Patients', 'orgStudyIdInfo': {'id': 'PDD-Beta thalassemia'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'beta thalassemia patients', 'interventionNames': ['Diagnostic Test: Hematological Analysis and Genetical Analysis']}], 'interventions': [{'name': 'Hematological Analysis and Genetical Analysis', 'type': 'DIAGNOSTIC_TEST', 'description': 'Hematological Analysis: Hematological parameters were determined with an automated hematology analyzer (Sysmex, Japan), and hemoglobin analysis was performed with either high-performance liquid chromatography (Bio-Rad, USA) or capillary electrophoresis (Sebia, France and Helena, USA).\n\nGenetical Analysis: Genomic DNA was extracted from peripheral blood (PB) by using a standard phenol/chloroform method. The genotypes of samples are analyzed by NGS assay.', 'armGroupLabels': ['beta thalassemia patients']}]}, 'contactsLocationsModule': {'locations': [{'zip': '510515', 'city': 'Guangzhou', 'state': 'Guangdong', 'status': 'RECRUITING', 'country': 'China', 'contacts': [{'name': 'Xiangmin Xu, Prof. Dr.', 'role': 'CONTACT', 'email': 'xixm@smu.edu.cn', 'phone': '(20) 61648293', 'phoneExt': '86'}], 'facility': 'Southern Medical University', 'geoPoint': {'lat': 23.11667, 'lon': 113.25}}], 'centralContacts': [{'name': 'Xiangmin Xu, Prof. Dr.', 'role': 'CONTACT', 'email': 'xixm@smu.edu.cn', 'phone': '(20) 61648293', 'phoneExt': '86'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Nanfang Hospital, Southern Medical University', 'class': 'OTHER'}, 'collaborators': [{'name': "303rd Hospital of the People's Liberation Army", 'class': 'OTHER'}, {'name': 'Liuzhou Municipal Maternity and Child Healthcare Hospital', 'class': 'UNKNOWN'}, {'name': 'Zhuhai Municipal Maternal and Child Healthcare Hospital', 'class': 'UNKNOWN'}, {'name': 'Dong Guan Maternal and Child Health Hospital', 'class': 'UNKNOWN'}], 'responsibleParty': {'type': 'SPONSOR'}}}}