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Clinical Trials/NCT05552690
NCT05552690Active, not recruitingNot Applicable

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

Chiang Mai University1 site in 1 country20 target enrollmentStarted: February 1, 2022Last updated:
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Conditions
Interventions

Trial Snapshot

Phase
Not Applicable
Status
Active, not recruiting
Enrollment
20
Locations
1
Primary Endpoint
Validate accuracy of TGS to provide globin gene mutation compared with conventional testing
Study OverviewStudy DesignEligibility CriteriaArms & InterventionsOutcomesInvestigatorsSitesRecords & IdentifiersSimilar Trials

Study Overview

Brief Summary

Test globin gene in participants

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 Design

Study Type
Interventional
Allocation
Na
Intervention Model
Single Group
Primary Purpose
Diagnostic
Masking
None

Eligibility Criteria

Sex
All
Accepts Healthy Volunteers
No

Inclusion Criteria

  • •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

Exclusion Criteria

  • •incomplete medical data

Arms & Interventions

Thalassemia screening positive

Other

In this study only 1 group of participants. No comparative. Only description

Intervention: blood draw (Procedure)

Outcomes

Primary Outcomes

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

Time Frame: 6 months after blood test

Percentage of accuracy to give the mutation diagnosis

Secondary Outcomes

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

Investigators

Sponsor Class
Other
Responsible Party
Principal Investigator
Principal Investigator

Kuntharee Traisrisilp

Associate Professor

Chiang Mai University

Study Sites (1)

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