Genotype-phenotype Correlation of SLC26A4 in CI Patients With EVA

NCT04934605 | Unknown

• 1 other identifier: 2013-007
• Study Type: observational
• Target: 60
• Locations: 0 countries
• Sites: N/A

Brief Summary

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

Conditions

Sensorineural Hearing Loss; Enlarged Vestibular Aqueduct

Keywords

enlarged vestibular aqueduct; SLC26A4; cochlear implant

Outcome Measures

Primary Outcomes (2)

• Cochlear implant age

  Age of cochlear implantation.

  Immediately after cochlear implantation

• Duration of hearing loss

  Time between found of hearing loss and cochlear implantation.

  Immediately after cochlear implantation

Secondary Outcomes (2)

• Type of initial hearing loss

  On the 1 day of recruitment.

• Type of hearing loss progression

  Immediately after cochlear implantation

Interventions

Cochlear implantation PROCEDURE

Cochlear implantation

Eligibility Criteria

• Age: 0 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Subjects with sensorineural hearing loss and enlarged vestibular aqueduct.

You may qualify if:

• Bilateral severe-to-profound sensorineural hearing loss who received cochlear implantation.
• 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).

You may not qualify if:

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

Sponsors & Collaborators

• Second Affiliated Hospital, School of Medicine, Zhejiang University: lead

Biospecimen

Retention: SAMPLES WITH DNA

Blood

MeSH Terms

Conditions

Hearing Loss, Sensorineural; Deafness, Autosomal Recessive 4

Interventions

Cochlear Implantation

Condition Hierarchy (Ancestors)

Hearing Loss; Hearing Disorders; Ear Diseases; Otorhinolaryngologic Diseases; Sensation Disorders; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Otologic Surgical Procedures; Otorhinolaryngologic Surgical Procedures; Surgical Procedures, Operative; Prosthesis Implantation

Study Officials

• Xiao Liu, MD

  Department of Otorhinolaryngology, 2nd Affiliated Hospital, School of Medicine, Zhejiang University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 10, 2021
• First Posted: June 22, 2021
• Study Start: May 1, 2010
• Primary Completion: May 1, 2021
• Study Completion: July 1, 2021
• Last Updated: June 22, 2021

Record last verified: 2021-04