NCT04918056

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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
1,300

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Jan 2017

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 1, 2017

Completed
4.4 years until next milestone

First Submitted

Initial submission to the registry

June 3, 2021

Completed
5 days until next milestone

First Posted

Study publicly available on registry

June 8, 2021

Completed
7 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 11, 2022

Completed
1.5 years until next milestone

Study Completion

Last participant's last visit for all outcomes

June 25, 2023

Completed
Last Updated

June 11, 2021

Status Verified

May 1, 2021

Enrollment Period

5 years

First QC Date

June 3, 2021

Last Update Submit

June 8, 2021

Conditions

Beta Thalassemia

Keywords

beta thalassemiaHb FOnset ageGenetic Modifier

Outcome Measures

Primary Outcomes (1)

  • Genetic variants which could influence the phenotype of beta thalassemia

    Identified a group of single-nucleotide polymorphisms (SNPs) that contribute to β-thalassemia

    1 year

Study Arms (1)

beta thalassemia patients

Diagnostic Test: Hematological Analysis and Genetical Analysis

Interventions

Hematological Analysis and Genetical AnalysisDIAGNOSTIC_TEST

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.

beta thalassemia patients

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

beta thalassemia patients from Southern China.

You may qualify if:

  • Diagnosed with β-thalassemia

You may not qualify if:

  • Iron Deficiency Anemia

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Southern Medical University

Guangzhou, Guangdong, 510515, China

RECRUITING

MeSH Terms

Conditions

beta-Thalassemia

Condition Hierarchy (Ancestors)

ThalassemiaAnemia, Hemolytic, CongenitalAnemia, HemolyticAnemiaHematologic DiseasesHemic and Lymphatic DiseasesHemoglobinopathiesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

Xiangmin Xu, Prof. Dr.

CONTACT

(20) 61648293xixm@smu.edu.cn

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
RETROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 3, 2021

First Posted

June 8, 2021

Study Start

January 1, 2017

Primary Completion

January 11, 2022

Study Completion

June 25, 2023

Last Updated

June 11, 2021

Record last verified: 2021-05

Locations

CN(1)