Development and Clinical Application of Two New Genetic Deafness Gene Diagnostic Kit

Brief Title

Development and Clinical Application of Two New Genetic Deafness Gene Diagnostic Kit

Official Title

Development and Clinical Application of Two New Genetic Deafness Gene

Brief Summary

      The purpose of this study is to develop and applicate two new genetic deafness gene
      diagnostic kit for Waardenburg syndrome and large vestibular aquduct syndrome.
    

Detailed Description

      1. For the pathogenic gene of Waardenburg syndrome and large vestibular aqueduct syndrome,
           based on the second-generation sequencing technology, the investigators develop
           multiplex PCR system for these two hereditary deafness gene diagnostic kit.

        2. Using CNVplex high-throughput gene copy number detection technology to analyse
           Warrdenburg syndrome pathologic gene. CNVs analysis for Warrdenburg deafness syndrome
           develop special testing system / kit achieve SNP / CNVs detected simultaneously, as a
           supplementary means of genetic testing in clinical deafness.
    

Study Type

Observational

Primary Outcome

the positive rate of WS diagnosis

Secondary Outcome

 the positive rate of LVAS diagnosis

Condition

Waardenburg Syndrome

Intervention

gene diagnostic kit

Study Arms / Comparison Groups

 WS

Description:  WS diagositic kit

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Status

Device

Estimated Enrollment

100

Start Date

January 2015

Completion Date

December 2017

Primary Completion Date

October 2017

Eligibility Criteria

        Inclusion Criteria:

          -  Clinical diagnosis of Waardenburg syndrome

          -  Clinical diagnosis of large vestibular aqueduct syndrome

        Exclusion Criteria:

          -  Could not be able to exsanguinate
      

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

, +86 13755132428, [email protected]

Location Countries

China

Location Countries

China

NCT ID

NCT02418936

Organization ID

2014L01

Responsible Party

Sponsor

Study Sponsor

Xiangya Hospital of Central South University

Study Sponsor

, , 

Verification Date

April 2015