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

NCT ID: NCT02418936

Last Updated: 2015-04-17

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-01-31

Study Completion Date

2017-12-31

Brief Summary

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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

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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.

Conditions

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Waardenburg Syndrome Large Vestibular Aqueduct Syndrome

Study Design

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Observational Model Type

CASE_ONLY

Study Groups

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WS

WS diagositic kit

gene diagnostic kit

Intervention Type DEVICE

LVAS

LVAS diagositic kit

gene diagnostic kit

Intervention Type DEVICE

Interventions

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gene diagnostic kit

Intervention Type DEVICE

Eligibility Criteria

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Inclusion Criteria

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

Exclusion Criteria

* Could not be able to exsanguinate
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Xiangya Hospital of Central South University

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Xiangya Hospital

Changsha, Hunan, China

Site Status RECRUITING

Countries

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China

Central Contacts

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Yuxiang Cai, MD

Role: CONTACT

+86 13755132428

Yalan Liu, PhD

Role: CONTACT

+86 13874835119

Facility Contacts

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Yuxiang Cai, MD

Role: primary

+86 13755132428

Other Identifiers

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2014L01

Identifier Type: -

Identifier Source: org_study_id

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