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

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ClinicalTrials.gov Identifier: NCT02418936
Recruitment Status : Unknown
Verified April 2015 by Xiangya Hospital of Central South University.
Recruitment status was:  Recruiting
First Posted : April 17, 2015
Last Update Posted : April 17, 2015
Sponsor:
Information provided by (Responsible Party):
Xiangya Hospital of Central South University

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.

Condition or disease Intervention/treatment
Waardenburg Syndrome Large Vestibular Aqueduct Syndrome 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.

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Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Case-Only
Official Title: Development and Clinical Application of Two New Genetic Deafness Gene
Study Start Date : January 2015
Estimated Primary Completion Date : October 2017
Estimated Study Completion Date : December 2017


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



Primary Outcome Measures :
  1. the positive rate of WS diagnosis [ Time Frame: two years ]

Secondary Outcome Measures :
  1. the positive rate of LVAS diagnosis [ Time Frame: two years ]

Biospecimen Retention:   Samples With DNA
whole blood


Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
People who are diagnosised Waardenburg syndrome or large vestibular aqueduct syndrome.
Criteria

Inclusion Criteria:

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

Exclusion Criteria:

  • Could not be able to exsanguinate

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02418936


Contacts
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Contact: Yuxiang Cai, MD +86 13755132428 caiyx_bb@163.com
Contact: Yalan Liu, PhD +86 13874835119 a_lan123@163.com

Locations
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China, Hunan
Xiangya Hospital Recruiting
Changsha, Hunan, China, 410008
Contact: Yuxiang Cai, MD    +86 13755132428    caiyx_bb@163.com   
Sponsors and Collaborators
Xiangya Hospital of Central South University

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Responsible Party: Xiangya Hospital of Central South University
ClinicalTrials.gov Identifier: NCT02418936     History of Changes
Other Study ID Numbers: 2014L01
First Posted: April 17, 2015    Key Record Dates
Last Update Posted: April 17, 2015
Last Verified: April 2015
Keywords provided by Xiangya Hospital of Central South University:
Waardenburg syndrome
Large vestibular aqueduct syndrome
Diagnosis
copy number variation
Multiplex polymerase chain reaction
Additional relevant MeSH terms:
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Deafness
Waardenburg Syndrome
Syndrome
Disease
Pathologic Processes
Hearing Loss
Hearing Disorders
Ear Diseases
Otorhinolaryngologic Diseases
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Abnormalities, Multiple
Congenital Abnormalities