Clinical Phenotypic Characteristics of SC26A4

August 19, 2023 updated by: Shiming Yang, PhD, Chinese PLA General Hospital

Clinical Phenotypic Characteristics of the Solute Carrier Family 26 Member 4 (SC26A4) Mutation in Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct (PS/NSEVA)

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.

Study Overview

Status

Active, not recruiting

Conditions

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 Type

Observational

Enrollment (Estimated)

300

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • China
    • Beijing
      • Beijing, Beijing, China, 1000853
        • Chinese PLA General Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Because the influencing factors and pathological mechanisms of PS/NSEVA patients are intricate, there are many controversies regarding the relationship between the SLC26A4 gene, the degree of hearing loss experienced by PS/NSEVA patients, and the relationship between inner ear imaging and audiology.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
SLC26A4 sequencing
Time Frame: through study completion, an average of 0.5 year
Extraction from patient clinical information database and secondary use. From each patient included in the study, 3 ml of peripheral blood was collected and the DNA extracted for the diagonosis in the past.
through study completion, an average of 0.5 year
High-resolution computed tomography of the temporal bone
Time Frame: through study completion, an average of 0.5 year
Extraction from patient clinical information database and secondary use. 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.
through study completion, an average of 0.5 year
Hearing test
Time Frame: through study completion, an average of 0.5 year
Extraction from patient clinical information database and secondary use. The Auditory Steady State Response test is conducted to evaluate the degree of hearing loss.
through study completion, an average of 0.5 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Chinese PLA General Hospital

Investigators

  • Study Chair: Shiming Yang, Chinese PLA General Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 15, 2023

Primary Completion (Actual)

August 1, 2023

Study Completion (Estimated)

August 31, 2023

Study Registration Dates

First Submitted

June 12, 2023

First Submitted That Met QC Criteria

July 24, 2023

First Posted (Actual)

August 1, 2023

Study Record Updates

Last Update Posted (Actual)

August 23, 2023

Last Update Submitted That Met QC Criteria

August 19, 2023

Last Verified

August 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • PS/NSEVA-01

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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