Clinical Phenotypic Characteristics of SC26A4

Chinese PLA General Hospital (301 Hospital)

Status: Active, not recruiting

Conditions: Hearing Loss; Pendred Syndrome

Study type: Observational

Funder types: Other

Identifiers

NCT05970445

PS/NSEVA-01

Details and patient eligibility

About

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.

Full 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.

Enrollment: 300 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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

Trial design

300 participants in 1 patient group

Patients with enlarged vestibular aqueduct

Description:

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.