Status:

UNKNOWN

Clinical Phenotypic Characteristics of SC26A4

Lead Sponsor:

Chinese PLA General Hospital

Conditions:

Hearing Loss

Pendred Syndrome

Eligibility:

All Genders

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.

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 prov...

Eligibility Criteria

Inclusion

  • Patients with Enlarged Vestibular Aqueduct;
  • Patients with hearing loss;
  • Patients with results of SLC26A4 sequencing;

Exclusion

  • Subjects will be excluded from this study if any of the following are present:
  • Audiometric data is incomplete
  • Incomplete basic information
  • Patients who did not undergo HRCT

Key Trial Info

Start Date :

May 15 2023

Trial Type :

OBSERVATIONAL

Allocation :

ESTIMATED

End Date :

August 31 2023

Estimated Enrollment :

300 Patients enrolled

Trial Details

Trial ID

NCT05970445

Start Date

May 15 2023

End Date

August 31 2023

Last Update

August 23 2023

Active Locations (1)

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1

Chinese PLA General Hospital

Beijing, Beijing Municipality, China, 1000853