Clinical Phenotypic Characteristics of SC26A4

Hearing Loss Clinical Trial

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT05970445
• Other study ID #: PS/NSEVA-01
• Status: Active, not recruiting
• Start date: May 15, 2023
• Est. completion date: August 31, 2023

Study information

• Verified date: August 2023
• Source: Chinese PLA General Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

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.

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 300
• Est. completion date: August 31, 2023
• Est. primary completion date: August 1, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Hearing Loss
• Syndrome

Locations

Country	Name	City	State
China	Chinese PLA General Hospital	Beijing	Beijing

Sponsors (1)

Lead Sponsor	Collaborator
Chinese PLA General Hospital

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	SLC26A4 sequencing	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
Primary	High-resolution computed tomography of the temporal bone	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
Primary	Hearing test	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