Development and Clinical Application of Two New Genetic D... | NCT02418936

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

NCT02418936

Sponsor

Xiangya Hospital of Central South University

Status

Unknown status

Last Update Posted

Apr 17, 2015Estimated

Enrollment

100Estimated

Phase

Not provided

Conditions

Waardenburg Syndrome
Large Vestibular Aqueduct Syndrome

Interventions

gene diagnostic kit

Countries

China

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Apr 2015

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jan 2015

Primary Completion Date

Oct 2017Estimated

Completion Date

Dec 2017Estimated

First Submitted Date

Apr 13, 2015

First Submission Date that Met QC Criteria

Apr 15, 2015

First Posted Date

Apr 17, 2015Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Apr 15, 2015

Last Update Posted Date

Apr 17, 2015Estimated

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

100Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
WS		WS diagositic kit	Device: gene diagnostic kit
LVAS		LVAS diagositic kit	Device: gene diagnostic kit

Interventions

Name	Type	Description	Arm Group Labels	Other Names
gene diagnostic kit	Device		LVAS WS

Outcomes Module

Primary Outcomes

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

Secondary Outcomes

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

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

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

Exclusion Criteria:

Could not be able to exsanguinate

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

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

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Yuxiang Cai, MD	Contact	+86 13755132428		caiyx_bb@163.com
Yalan Liu, PhD	Contact	+86 13874835119		a_lan123@163.com

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Xiangya Hospital	Recruiting	Changsha	Hunan	410008	China

Condition Browse Module

MeSH Terms

ID	Term
D014849	Waardenburg Syndrome
D004194	Disease

Ancestor Terms

ID	Term
D000015	Abnormalities, Multiple
D000013	Congenital Abnormalities
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
D010335	Pathologic Processes

Browse Leaves

Not provided

Browse Branches

Not provided