NCT05970445

Clinical Phenotypic Characteristics of SC26A4

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

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 300 (estimated)
• Sponsor: Chinese PLA General Hospital · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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 provide evidence supporting the clinical diagnosis and genetic counseling of patients with PS/NSEVA. A retrospective cohort study for the Chinese population is needed.

Conditions

• Hearing Loss
• Pendred Syndrome

Timeline

• Start date: 2023-05-15
• Primary completion: 2023-08-01
• Completion: 2023-08-31
• First posted: 2023-08-01
• Last updated: 2023-08-23

Locations

1 site across 1 country: China