Genetic Variants Affecting the Clinical Severity of Beta Thalassemia

Beta Thalassemia Clinical Trial

Official title:

Screening and Identification of Genetic Modifiers Which Affecting the Phenotype Severity of Beta Thalassemia Patients

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04918056
• Other study ID #: PDD-Beta thalassemia
• Status: Recruiting
• Start date: January 1, 2017
• Est. completion date: June 25, 2023

Study information

• Verified date: May 2021
• Source: Nanfang Hospital of Southern Medical University
• Contact: Xiangmin Xu, Prof. Dr.
• Phone: (20) 61648293
• Email: xixm[@]smu.edu.cn
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1300
• Est. completion date: June 25, 2023
• Est. primary completion date: January 11, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Diagnosed with ß-thalassemia

Exclusion Criteria:

• Iron Deficiency Anemia

Related Conditions & MeSH terms

• Beta Thalassemia
• beta-Thalassemia
• 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.

Locations

Country	Name	City	State
China	Southern Medical University	Guangzhou	Guangdong

Sponsors (5)

Lead Sponsor	Collaborator
Nanfang Hospital of Southern Medical University	303rd Hospital of the People's Liberation Army, Dong Guan Maternal and Child Health Hospital, Liuzhou Municipal Maternity and Child Healthcare Hospital, Zhuhai Municipal Maternal and Child Healthcare Hospital

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Genetic variants which could influence the phenotype of beta thalassemia	Identified a group of single-nucleotide polymorphisms (SNPs) that contribute to ß-thalassemia	1 year