Genotype-phenotype Correlation of SLC26A4 in CI Patients With EVA

Sensorineural Hearing Loss Clinical Trial

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT04934605
• Other study ID #: 2013-007
• Status: Active, not recruiting
• Start date: May 1, 2010
• Est. completion date: July 1, 2021

Study information

• Verified date: April 2021
• Source: Second Affiliated Hospital, School of Medicine, Zhejiang University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 60
• Est. completion date: July 1, 2021
• Est. primary completion date: May 1, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 18 Years

Eligibility

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.

Related Conditions & MeSH terms

• Enlarged Vestibular Aqueduct
• Hearing Loss
• Hearing Loss, Sensorineural
• Sensorineural Hearing Loss

Intervention

Procedure:
• Cochlear implantation
Cochlear implantation

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Second Affiliated Hospital, School of Medicine, Zhejiang University

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Cochlear implant age	Age of cochlear implantation.	Immediately after cochlear implantation
Primary	Duration of hearing loss	Time between found of hearing loss and cochlear implantation.	Immediately after cochlear implantation
Secondary	Type of initial hearing loss	Prelingual or postlingual; Hearing aid can or cannot benefit	On the 1 day of recruitment.
Secondary	Type of hearing loss progression	Initial profound, sudden, or fluctuating hearing loss.	Immediately after cochlear implantation