免费获得国外相关药品，最快 1 个工作日回馈药物信息
出境医 / 临床实验 / Genetic Variants Affecting the Clinical Severity of Beta Thalassemia
Genetic Variants Affecting the Clinical Severity of Beta Thalassemia
Study Description
Brief Summary:
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.
| Condition or disease | Intervention/treatment |
|---|---|
| Beta Thalassemia | Diagnostic Test: Hematological Analysis and Genetical Analysis |
Detailed Description:
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.
Study Design
| Study Type : | Observational |
| Estimated Enrollment : | 1300 participants |
| Observational Model: | Cohort |
| Time Perspective: | Retrospective |
| Official Title: | Screening and Identification of Genetic Modifiers Which Affecting the Phenotype Severity of Beta Thalassemia Patients |
| Actual Study Start Date : | January 1, 2017 |
| Estimated Primary Completion Date : | January 11, 2022 |
| Estimated Study Completion Date : | June 25, 2023 |
Arms and Interventions
| Group/Cohort | Intervention/treatment |
|---|---|
| beta thalassemia patients |
Diagnostic Test: Hematological Analysis and Genetical Analysis
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). Genetical 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. |
Outcome Measures
Primary Outcome Measures :
- Genetic variants which could influence the phenotype of beta thalassemia [ Time Frame: 1 year ]Identified a group of single-nucleotide polymorphisms (SNPs) that contribute to β-thalassemia
Eligibility Criteria
| Ages Eligible for Study: | Child, Adult, Older Adult |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Probability Sample |
Study Population
beta thalassemia patients from Southern China.
Criteria
Inclusion Criteria:
- Diagnosed with β-thalassemia
Exclusion Criteria:
- Iron Deficiency Anemia
Contacts and Locations
Contacts
| Contact: Xiangmin Xu, Prof. Dr. | (20) 61648293 ext 86 | xixm@smu.edu.cn |
Locations
| China, Guangdong | |
| Southern Medical University | Recruiting |
| Guangzhou, Guangdong, China, 510515 | |
| Contact: Xiangmin Xu, Prof. Dr. (20) 61648293 ext 86 xixm@smu.edu.cn | |
Sponsors and Collaborators
Nanfang Hospital of Southern Medical University
303rd Hospital of the People's Liberation Army
Liuzhou Municipal Maternity and Child Healthcare Hospital
Zhuhai Municipal Maternal and Child Healthcare Hospital
Dong Guan Maternal and Child Health Hospital
| Tracking Information | |||||
|---|---|---|---|---|---|
| First Submitted Date | June 3, 2021 | ||||
| First Posted Date | June 8, 2021 | ||||
| Last Update Posted Date | June 11, 2021 | ||||
| Actual Study Start Date | January 1, 2017 | ||||
| Estimated Primary Completion Date | January 11, 2022 (Final data collection date for primary outcome measure) | ||||
| Current Primary Outcome Measures |
Genetic variants which could influence the phenotype of beta thalassemia [ Time Frame: 1 year ] Identified a group of single-nucleotide polymorphisms (SNPs) that contribute to β-thalassemia
|
||||
| Original Primary Outcome Measures | Same as current | ||||
| Change History | |||||
| Current Secondary Outcome Measures | Not Provided | ||||
| Original Secondary Outcome Measures | Not Provided | ||||
| Current Other Pre-specified Outcome Measures | Not Provided | ||||
| Original Other Pre-specified Outcome Measures | Not Provided | ||||
| Descriptive Information | |||||
| Brief Title | Genetic Variants Affecting the Clinical Severity of Beta Thalassemia | ||||
| Official Title | Screening and Identification of Genetic Modifiers Which Affecting the Phenotype Severity of Beta Thalassemia Patients | ||||
| Brief Summary | 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. | ||||
| Detailed Description | 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. | ||||
| Study Type | Observational | ||||
| Study Design | Observational Model: Cohort Time Perspective: Retrospective |
||||
| Target Follow-Up Duration | Not Provided | ||||
| Biospecimen | Not Provided | ||||
| Sampling Method | Probability Sample | ||||
| Study Population | beta thalassemia patients from Southern China. | ||||
| Condition | Beta Thalassemia | ||||
| Intervention | Diagnostic Test: Hematological Analysis and Genetical Analysis
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). Genetical 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. |
||||
| Study Groups/Cohorts | beta thalassemia patients
Intervention: Diagnostic Test: Hematological Analysis and Genetical Analysis
|
||||
| Publications * | Not Provided | ||||
|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
|||||
| Recruitment Information | |||||
| Recruitment Status | Recruiting | ||||
| Estimated Enrollment |
1300 | ||||
| Original Estimated Enrollment | Same as current | ||||
| Estimated Study Completion Date | June 25, 2023 | ||||
| Estimated Primary Completion Date | January 11, 2022 (Final data collection date for primary outcome measure) | ||||
| Eligibility Criteria |
Inclusion Criteria:
Exclusion Criteria:
|
||||
| Sex/Gender |
|
||||
| Ages | Child, Adult, Older Adult | ||||
| Accepts Healthy Volunteers | No | ||||
| Contacts |
|
||||
| Listed Location Countries | China | ||||
| Removed Location Countries | |||||
| Administrative Information | |||||
| NCT Number | NCT04918056 | ||||
| Other Study ID Numbers | PDD-Beta thalassemia | ||||
| Has Data Monitoring Committee | Not Provided | ||||
| U.S. FDA-regulated Product |
|
||||
| IPD Sharing Statement | Not Provided | ||||
| Responsible Party | Nanfang Hospital of Southern Medical University | ||||
| Study Sponsor | Nanfang Hospital of Southern Medical University | ||||
| Collaborators |
|
||||
| Investigators | Not Provided | ||||
| PRS Account | Nanfang Hospital of Southern Medical University | ||||
| Verification Date | May 2021 | ||||