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Clinical Trials/NCT02418936
NCT02418936UnknownNot Applicable

Development and Clinical Application of Two New Genetic Deafness Gene

Xiangya Hospital of Central South University1 site in 1 country100 target enrollmentStarted: January 2015Last updated:
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Conditions

Trial Snapshot

Phase
Not Applicable
Sponsor
Enrollment
100
Locations
1
Primary Endpoint
the positive rate of WS diagnosis
Study OverviewStudy DesignEligibility CriteriaOutcomesInvestigatorsSitesRecords & IdentifiersSimilar Trials

Study Overview

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 Design

Study Type
Observational
Observational Model
Case Only

Eligibility Criteria

Sex
All
Accepts Healthy Volunteers
No

Inclusion Criteria

  • •Clinical diagnosis of Waardenburg syndrome
  • •Clinical diagnosis of large vestibular aqueduct syndrome

Exclusion Criteria

  • •Could not be able to exsanguinate

Outcomes

Primary Outcomes

the positive rate of WS diagnosis

Time Frame: two years

Secondary Outcomes

  • the positive rate of LVAS diagnosis(two years)

Investigators

Sponsor
Xiangya Hospital of Central South University
Sponsor Class
Other
Responsible Party
Sponsor

Study Sites (1)

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