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Genetic Variants Affecting the Clinical Severity of Beta Thalassemia

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ClinicalTrials.gov Identifier: NCT04918056
Recruitment Status : Recruiting
First Posted : June 8, 2021
Last Update Posted : June 11, 2021
Sponsor:
Collaborators:
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
Information provided by (Responsible Party):
Nanfang Hospital of Southern Medical University

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.

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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

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Thalassemia

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.





Primary Outcome Measures :
  1. 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



Information from the National Library of Medicine

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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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04918056


Contacts
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Contact: Xiangmin Xu, Prof. Dr. (20) 61648293 ext 86 xixm@smu.edu.cn

Locations
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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
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Responsible Party: Nanfang Hospital of Southern Medical University
ClinicalTrials.gov Identifier: NCT04918056    
Other Study ID Numbers: PDD-Beta thalassemia
First Posted: June 8, 2021    Key Record Dates
Last Update Posted: June 11, 2021
Last Verified: May 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Nanfang Hospital of Southern Medical University:
beta thalassemia
Hb F
Onset age
Genetic Modifier
Additional relevant MeSH terms:
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Thalassemia
beta-Thalassemia
Anemia, Hemolytic, Congenital
Anemia, Hemolytic
Anemia
Hematologic Diseases
Hemoglobinopathies
Genetic Diseases, Inborn