Clinical Phenotypic Characteristics of SC26A4

Status Active, not recruiting

Clinical Trial 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.

Clinical Trial 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

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT05970445
Study type	Observational
Source	Chinese PLA General Hospital
Contact
Status	Active, not recruiting
Phase
Start date	May 15, 2023
Completion date	August 31, 2023

View Details

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