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

Large Vestibular Aqueduct Syndrome Clinical Trial

Official title:

Development and Clinical Application of Two New Genetic Deafness Gene

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02418936
• Other study ID #: 2014L01
• Status: Recruiting
• Phase: N/A
• First received: April 13, 2015
• Last updated: April 15, 2015
• Start date: January 2015
• Est. completion date: December 2017

Study information

• Verified date: April 2015
• Source: Xiangya Hospital of Central South University
• Contact: Yuxiang Cai, MD
• Phone: +86 13755132428
• Email: caiyx_bb[@]163.com
• Is FDA regulated: No
• Health authority: China: Food and Drug Administration
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 100
• Est. completion date: December 2017
• Est. primary completion date: October 2017
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Clinical diagnosis of Waardenburg syndrome

• Clinical diagnosis of large vestibular aqueduct syndrome

Exclusion Criteria:

• Could not be able to exsanguinate

Study Design

Observational Model: Case-Only

Related Conditions & MeSH terms

• Large Vestibular Aqueduct Syndrome
• Syndrome
• Waardenburg Syndrome

Intervention

Device:
• gene diagnostic kit

Locations

Country	Name	City	State
China	Xiangya Hospital	Changsha	Hunan

Sponsors (1)

Lead Sponsor	Collaborator
Xiangya Hospital of Central South University

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	the positive rate of WS diagnosis		two years	No
Secondary	the positive rate of LVAS diagnosis		two years	No