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

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Disease Information

Descriptive Information
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 Phase N/A
Study Type † Observational
Study Design † Observational Model: Case-Only
Primary Outcome Measure † the positive rate of WS diagnosis
Secondary Outcome Measure † the positive rate of LVAS diagnosis
Condition † Waardenburg Syndrome Large Vestibular Aqueduct Syndrome
Intervention † Devicegene diagnostic kit
Study Arms / Comparison Groups WS WS diagositic kit LVAS LVAS 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 Information
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 Both
Ages N/A - N/A
Accepts Healthy Volunteers No
Contacts †† Yuxiang Cai, MD, +86 13755132428,
Location Countries † China
Administrative Information
NCT ID † NCT02418936
Organization ID 2014L01
Secondary IDs ††
Responsible Party Sponsor
Study Sponsor † Xiangya Hospital of Central South University
Collaborators ††
Investigators † : ,
Information Provided By
Verification Date April 2015
First Received Date † April 13, 2015
Last Updated Date April 15, 2015
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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