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Clinical Phenotypic Characteristics of SC26A4

Sponsor
Chinese PLA General Hospital (Other)
Overall Status
Recruiting
CT.gov ID
NCT05970445
Collaborator
(none)
300
Enrollment
1
Location
7.6
Anticipated Duration (Months)
39.7
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

The presence or absence of SC26A4, whether combined with Mondini malformation, and patient age, are important factors affecting the degree of hearing loss in the Chinese population.

Condition or Disease Intervention/Treatment Phase

    Detailed Description

    To summarize the Solute Carrier Family 26 Member 4 (SLC26A4) mutation and clinical phenotypic characteristics of Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct (PS/NSEVA) patients and provide evidence supporting the clinical diagnosis and genetic counseling of patients with PS/NSEVA. A retrospective cohort study for the Chinese population is needed.

    Study Design

    Study Type:
    Observational
    Anticipated Enrollment :
    300 participants
    Observational Model:
    Cohort
    Time Perspective:
    Retrospective
    Official Title:
    Clinical Phenotypic Characteristics of the Solute Carrier Family 26 Member 4 (SC26A4) Mutation in Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct (PS/NSEVA)
    Actual Study Start Date :
    May 15, 2023
    Anticipated Primary Completion Date :
    Aug 1, 2023
    Anticipated Study Completion Date :
    Dec 31, 2023

    Arms and Interventions

    Arm Intervention/Treatment
    Patients with enlarged vestibular aqueduct

    This study will analyze the SLC26A4 mutation, and audiological and imaging characteristics of PS/NSEVA to summarize the clinical manifestations of PS/NSEVA patients. The study also will analyze the effects of SLC26A4 mutation and inner ear imaging on the degree of hearing loss in PS/NSEVA patients to provide predictive measures for the genetic diagnosis and clinical phenotype of PS/NSEVA. Finally, the effects of sex and age on the degree of hearing loss in patients with PS/NSEVA will be analyzed to provide insight on PS/NSEVA pathogenesis.

    Outcome Measures

    Primary Outcome Measures

    1. SLC26A4 sequencing [Extraction from patient clinical information database and secondary use, through study completion, an average of 0.5 year]

      From each patient included in the study, 3 ml of peripheral blood is collected and the DNA extracted for the diagonosis.

    2. High-resolution computed tomography of the temporal bone [xtraction from patient clinical information database and secondary use, through study completion, an average of 0.5 year]

      High-resolution computed tomography of the temporal bone is used to measure the width of the vestibular aqueduct (VA) in the left and right ears to determine whether other inner ear malformations exist.

    3. Hearing test [xtraction from patient clinical information database and secondary use, through study completion, an average of 0.5 year]

      The Auditory Steady State Response test is conducted to evaluate the degree of hearing loss.

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    Inclusion Criteria:

    1. Patients with Enlarged Vestibular Aqueduct;

    2. Patients with hearing loss;

    3. Patients with results of SLC26A4 sequencing;

    Exclusion Criteria:
    Subjects will be excluded from this study if any of the following are present:

    1. Audiometric data is incomplete

    2. Incomplete basic information

    3. Patients who did not undergo HRCT

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Chinese PLA General Hospital Beijing Beijing China 1000853

    Sponsors and Collaborators

    • Chinese PLA General Hospital

    Investigators

    • Study Chair: Shiming Yang, Chinese PLA General Hospital

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Shiming Yang, PhD, Departmant of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital
    ClinicalTrials.gov Identifier:
    NCT05970445
    Other Study ID Numbers:
    • PS/NSEVA-01
    First Posted:
    Aug 1, 2023
    Last Update Posted:
    Aug 1, 2023
    Last Verified:
    Jul 1, 2023
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Additional relevant MeSH terms:
    Hearing Loss
    Syndrome

    Study Results

    No Results Posted as of Aug 1, 2023