临床试验/NCT05552690

NCT05552690进行中（未招募）不适用

Thalassemia Screening by Third Generation Sequencing (TGS): Pilot Study in Thai Population

Chiang Mai University2 个研究点分布在 1 个国家目标入组 20 人开始时间: 2022年2月1日最近更新: 2023年2月8日

适应症

试验速览

阶段: 不适用
状态: 进行中（未招募）
发起方: Chiang Mai University
入组人数: 20
试验地点: 2
主要终点: Validate accuracy of TGS to provide globin gene mutation compared with conventional testing

研究概览研究设计入排标准结局指标研究者研究点记录与标识符相似试验

研究概览

简要总结

Test globin gene in participants

详细描述

Recruit individuals who documented as thalassemia carrier or disease and who positive thalassemia screening but unknown mutation.

Blood will be sent for third generation sequencing to review alpha and beta globin gene mutation.

研究设计

研究类型: Interventional
分配方式: Na
干预模型: Single Group
主要目的: Diagnostic
盲法: None

入排标准

性别: All
接受健康志愿者: 否

入选标准

•Thalassemia carriers or disease individuals with documented as known globin gene mutation.
•Thalassemia carriers or disease individuals whose mutation did not retrieve from conventional technique and were assigned as no known mutation

排除标准

•incomplete medical data

结局指标

主要结局

Validate accuracy of TGS to provide globin gene mutation compared with conventional testing

时间窗: 6 months after blood test

Percentage of accuracy to give the mutation diagnosis

次要结局

Additional mutation added by TGS(6 months after blood test)

研究者

发起方

Chiang Mai University

申办方类型

Other

责任方

Principal Investigator

主要研究者

Kuntharee Traisrisilp

Associate Professor

Chiang Mai University

研究点 (2)

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