- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02418936
Development and Clinical Application of Two New Genetic Deafness Gene Diagnostic Kit
April 15, 2015 updated by: Xiangya Hospital of Central South University
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
Intervention / Treatment
Detailed Description
- 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.
- 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
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Contact
- Name: Yuxiang Cai, MD
- Phone Number: +86 13755132428
- Email: caiyx_bb@163.com
Study Contact Backup
- Name: Yalan Liu, PhD
- Phone Number: +86 13874835119
- Email: a_lan123@163.com
Study Locations
-
-
Hunan
-
Changsha, Hunan, China, 410008
- Recruiting
- Xiangya Hospital
-
Contact:
- Yuxiang Cai, MD
- Phone Number: +86 13755132428
- Email: caiyx_bb@163.com
-
-
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
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
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Observational Models: Case-Only
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
WS
WS diagositic kit
|
|
LVAS
LVAS diagositic kit
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
the positive rate of WS diagnosis
Time Frame: two years
|
two years
|
Secondary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
the positive rate of LVAS diagnosis
Time Frame: two years
|
two years
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
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
Additional Relevant MeSH Terms
Other Study ID Numbers
- 2014L01
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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