Thalassemia Screening by Third Generation Sequencing

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

Test globin gene in participants

Study Overview

• Status: Active, not recruiting
• Conditions: Thalassemia Trait; Thalassemia; Mixed
• Intervention / Treatment: Procedure: blood draw

Detailed Description

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.

• Study Type: Interventional
• Enrollment (Actual): 20
• Phase: Not Applicable

Contacts and Locations

Study Locations

• Thailand
  • ChiangMai, Thailand, 50200
    • Maharaj Nakorn Chiangmai Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: ADULT; OLDER_ADULT; CHILD
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

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

Exclusion Criteria:

-incomplete medical data

Study Plan

How is the study designed?

Design Details

• Primary Purpose: DIAGNOSTIC
• Allocation: NA
• Interventional Model: SINGLE_GROUP
• Masking: NONE

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
OTHER: Thalassemia screening positive; In this study only 1 group of participants. No comparative. Only description	Procedure: blood draw; 10 ml of blood will be draw to genetic analysis (sequencing)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Validate accuracy of TGS to provide globin gene mutation compared with conventional testing	Percentage of accuracy to give the mutation diagnosis	6 months after blood test

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Additional mutation added by TGS	Percentage of mutation are added by sequencing	6 months after blood test

Collaborators and Investigators

• Sponsor: ChaingMai University

Study record dates

Study Major Dates

• Study Start (ACTUAL): February 1, 2022
• Primary Completion (ACTUAL): April 30, 2022
• Study Completion (ANTICIPATED): May 31, 2023

Study Registration Dates

• First Submitted: September 19, 2022
• First Submitted That Met QC Criteria: September 21, 2022
• First Posted (ACTUAL): September 23, 2022

Study Record Updates

• Last Update Posted (ACTUAL): February 8, 2023
• Last Update Submitted That Met QC Criteria: February 7, 2023
• Last Verified: February 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Hematologic Diseases; Genetic Diseases, Inborn; Anemia; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Hemoglobinopathies; Thalassemia
• Other Study ID Numbers: 513/2021

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No