Genotype-phenotype Correlation of SLC26A4 in CI Patients With EVA

June 21, 2021 updated by: Second Affiliated Hospital, School of Medicine, Zhejiang University

A Genotype-phenotype Correlation of SLC26A4 Mutations in Cochlear-implanted Patients With Enlarged Vestibular Aqueduct

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

Study Overview

Status

Active, not recruiting

Conditions

Intervention / Treatment

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.

Study Type

Observational

Enrollment (Anticipated)

60

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

1 second to 18 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Subjects with sensorineural hearing loss and enlarged vestibular aqueduct.

Description

Inclusion Criteria:

  1. Bilateral severe-to-profound sensorineural hearing loss who received cochlear implantation.
  2. 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:

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

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
  • Time Perspectives: Retrospective

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Second Affiliated Hospital, School of Medicine, Zhejiang University

Investigators

  • Principal Investigator: Xiao Liu, MD, Department of Otorhinolaryngology, 2nd Affiliated Hospital, School of Medicine, Zhejiang University

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 (Actual)

May 1, 2010

Primary Completion (Actual)

May 1, 2021

Study Completion (Anticipated)

July 1, 2021

Study Registration Dates

First Submitted

June 10, 2021

First Submitted That Met QC Criteria

June 21, 2021

First Posted (Actual)

June 22, 2021

Study Record Updates

Last Update Posted (Actual)

June 22, 2021

Last Update Submitted That Met QC Criteria

June 21, 2021

Last Verified

April 1, 2021

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2013-007

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

Undecided

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

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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