Genotype-phenotype Correlation of SLC26A4 in CI Patients With EVA

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

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04934605

Enrollment

Registered

2021-06-22

Start date

2010-05-01

Completion date

2021-07-01

Last updated

2021-06-22

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Enlarged Vestibular Aqueduct, Sensorineural Hearing Loss

Keywords

enlarged vestibular aqueduct, SLC26A4, cochlear implant

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.

Interventions

PROCEDURECochlear implantation

Cochlear implantation

Study design

Observational model

CASE_ONLY

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

0 Years to 18 Years

Healthy volunteers

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.

Design outcomes

Primary

Measure	Time frame	Description
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

Measure	Time frame	Description
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.

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026