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

Development and Clinical Application of Two New Genetic Deafness Gene

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.

Study Overview

• Status: Unknown
• Conditions: Waardenburg Syndrome; Large Vestibular Aqueduct Syndrome
• Intervention / Treatment: Device: gene diagnostic kit

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
• Enrollment (Anticipated): 100

Contacts and Locations

Study Locations

• China
  • Hunan
    • Changsha, Hunan, China, 410008
      • Recruiting
      • Xiangya Hospital
      • Contact: Yuxiang Cai, MD; Phone Number: +86 13755132428; Email: caiyx_bb@163.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

People who are diagnosised Waardenburg syndrome or large vestibular aqueduct syndrome.

Description

Inclusion Criteria:

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

Exclusion Criteria:

• Could not be able to exsanguinate

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
WS; WS diagositic kit	Device: gene diagnostic kit
LVAS; LVAS diagositic kit	Device: gene diagnostic kit

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
the positive rate of WS diagnosis	two years

Secondary Outcome Measures

Outcome Measure	Time Frame
the positive rate of LVAS diagnosis	two years

Collaborators and Investigators

• Sponsor: Xiangya Hospital of Central South University

Study record dates

Study Major Dates

• Study Start: January 1, 2015
• Primary Completion (Anticipated): October 1, 2017
• Study Completion (Anticipated): December 1, 2017

Study Registration Dates

• First Submitted: April 13, 2015
• First Submitted That Met QC Criteria: April 15, 2015
• First Posted (Estimate): April 17, 2015

Study Record Updates

• Last Update Posted (Estimate): April 17, 2015
• Last Update Submitted That Met QC Criteria: April 15, 2015
• Last Verified: April 1, 2015

More Information

Terms related to this study

• Keywords: Diagnosis; Waardenburg syndrome; Large vestibular aqueduct syndrome; copy number variation; Multiplex polymerase chain reaction
• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Neurologic Manifestations; Disease; Congenital Abnormalities; Otorhinolaryngologic Diseases; Ear Diseases; Sensation Disorders; Abnormalities, Multiple; Hearing Disorders; Hearing Loss; Syndrome; Deafness; Waardenburg Syndrome
• Other Study ID Numbers: 2014L01