Genotype-phenotype Correlation of SLC26A4 in CI Patients... | NCT04934605

Studies
Genotype-phenotype Correlation of SLC26A4 in CI Patients With EVA

NCT04934605

Sponsor

Second Affiliated Hospital, School of Medicine, Zhejiang University

Status

Unknown status

Last Update Posted

Jun 22, 2021Actual

Enrollment

60Estimated

Phase

Not provided

Conditions

Sensorineural Hearing Loss
Enlarged Vestibular Aqueduct

Interventions

Cochlear implantation

Countries

Not provided

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 2021

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Active, not recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

May 1, 2010Actual

Primary Completion Date

May 1, 2021Actual

Completion Date

Jul 1, 2021Estimated

First Submitted Date

Jun 10, 2021

First Submission Date that Met QC Criteria

Jun 21, 2021

First Posted Date

Jun 22, 2021Actual

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

Jun 21, 2021

Last Update Posted Date

Jun 22, 2021Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Not provided

Is FDA Regulated Drug

Is FDA Regulated Device

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

To explore the genotype-phenotype correlation of SLC26A4 mutations in cochlear-implanted patients with enlarged vestibular aqueduct.

Detailed Description

Enlarged vestibular aqueduct (EVA) is one of the most common forms of inner ear malformation that cause sensorineural hearing loss (SNHL). Some patients with EVA present delayed, fluctuating, and progressive hearing loss, while the others are with congenital or sudden hearing loss. Cochlear implants (CI) have been widely used in patients with severe-profound SNHL. However, it is difficult to define the optimal timing of CI operations for patients with EVA. Mutations in SLC26A4 are known to be responsible for EVA. This study is to explore the genotype-phenotype correlation of SLC26A4 mutations in cochlear-implanted patients with EVA.

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

60Estimated

Name	Type	Description	Arm Group Labels	Other Names
Cochlear implantation	Procedure	Cochlear implantation

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Cochlear implant age	Age of cochlear implantation.	Immediately after cochlear implantation
Duration of hearing loss	Time between found of hearing loss and cochlear implantation.	Immediately after cochlear implantation

Secondary Outcomes

Measure	Description	Time Frame
Type of initial hearing loss	Prelingual or postlingual; Hearing aid can or cannot benefit	On the 1 day of recruitment.
Type of hearing loss progression	Initial profound, sudden, or fluctuating hearing loss.

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Bilateral severe-to-profound sensorineural hearing loss who received cochlear implantation.
Bilateral or unilateral enlarged vestibular aqueduct (EVA) with or without Mondini malformation (IP-II) on temporal bone computed tomography (CT) and/or magnetic resonance imaging (MRI).

Exclusion Criteria:

Hearing loss that is associated with symptoms which meet the criteria of already known syndromes.
With other type of inner ear malformation.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

0 Years

Maximum Age

18 Years

Standard Ages

ChildAdult

Study Population

Subjects with sensorineural hearing loss and enlarged vestibular aqueduct.

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Xiao Liu, MD	Department of Otorhinolaryngology, 2nd Affiliated Hospital, School of Medicine, Zhejiang University	Principal Investigator

Locations

Not provided

IPD Sharing Statement Module

Plan to Share IPD

Undecided

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D006319	Hearing Loss, Sensorineural
C566366	Deafness, Autosomal Recessive 4

Ancestor Terms

ID	Term
D034381	Hearing Loss
D006311	Hearing Disorders
D004427	Ear Diseases
D010038	Otorhinolaryngologic Diseases

Browse Leaves

Not provided

Browse Branches

Not provided

Intervention Browse Module

MeSH Terms

ID	Term
D019929	Cochlear Implantation

Ancestor Terms

ID	Term
D013506	Otologic Surgical Procedures
D013517	Otorhinolaryngologic Surgical Procedures
D013514	Surgical Procedures, Operative
D019919	Prosthesis Implantation

Browse Leaves

Not provided

Browse Branches

Not provided