Genotype-phenotype Correlation of SLC26A4 in CI Patients With EVA

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Brief Title

Genotype-phenotype Correlation of SLC26A4 in CI Patients With EVA

Official Title

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

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.
    


Study Type

Observational


Primary Outcome

Cochlear implant age

Secondary Outcome

 Type of initial hearing loss

Condition

Sensorineural Hearing Loss

Intervention

Cochlear implantation


Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Procedure

Estimated Enrollment

60

Start Date

May 1, 2010

Completion Date

July 1, 2021

Primary Completion Date

May 1, 2021

Eligibility Criteria

        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.
      

Gender

All

Ages

N/A - 18 Years

Accepts Healthy Volunteers

No

Contacts

Xiao Liu, MD, , 



Administrative Informations


NCT ID

NCT04934605

Organization ID

2013-007


Responsible Party

Sponsor

Study Sponsor

Second Affiliated Hospital, School of Medicine, Zhejiang University


Study Sponsor

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


Verification Date

April 2021