Genotype-phenotype Correlation of SLC26A4 in CI Patients With EVA

• Conditions: Sensorineural Hearing Loss; Enlarged Vestibular Aqueduct

• Registration Number: NCT04934605
• Lead Sponsor: Second Affiliated Hospital, School of Medicine, Zhejiang University

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 Timeline

• Study Start: 2010-05-01
• Status Verified: 2021-04
• Primary Completion: 2021-05-01
• Study First Submitted: 2021-06-10
• Study First Submitted QC: 2021-06-21
• Last Update Submitted: 2021-06-21
• Study First Posted: 2021-06-22
• Last Update Posted: 2021-06-22
• Study Completion: 2021-07-01

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 60

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Cochlear implant age	Immediately after cochlear implantation	Age of cochlear implantation.
Duration of hearing loss	Immediately after cochlear implantation	Time between found of hearing loss and cochlear implantation.

Secondary Outcome Measures

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