Genetic Variants Affecting the Clinical Severity of Beta Thalassemia

• ClinicalTrials.gov Identifier: NCT04918056
• Recruitment Status: Unknown
• First Posted: June 8, 2021
• Last Update Posted: June 11, 2021
• Sponsor: Nanfang Hospital, Southern Medical University
• 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, Southern Medical University

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 (submitted: June 7, 2021)

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
• 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

Recruitment Information

• Recruitment Status: Unknown status
• Estimated Enrollment (submitted: June 7, 2021): 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:

• Diagnosed with β-thalassemia

Exclusion Criteria:

• Iron Deficiency Anemia

Sex/Gender

• Sexes Eligible for Study: All

• Ages: Child, Adult, Older Adult
• Accepts Healthy Volunteers: No
• Contacts: Contact information is only displayed when the study is recruiting subjects
• Listed Location Countries: China

Administrative Information

• NCT Number: NCT04918056
• Other Study ID Numbers: PDD-Beta thalassemia
• Has Data Monitoring Committee: Not Provided

U.S. FDA-regulated Product

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

• IPD Sharing Statement: Not Provided
• Current Responsible Party: Nanfang Hospital, Southern Medical University
• Original Responsible Party: Same as current
• Current Study Sponsor: Nanfang Hospital, Southern Medical University
• Original Study Sponsor: Same as current

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

• Investigators: Not Provided
• PRS Account: Nanfang Hospital, Southern Medical University
• Verification Date: May 2021