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

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT05970445

Enrollment

300

Registered

2023-08-01

Start date

2023-05-15

Completion date

2023-08-31

Last updated

2023-08-23

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hearing Loss, Pendred Syndrome

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

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

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

Design outcomes

Primary

Measure	Time frame	Description
SLC26A4 sequencing	through study completion, an average of 0.5 year	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.
High-resolution computed tomography of the temporal bone	through study completion, an average of 0.5 year	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.
Hearing test	through study completion, an average of 0.5 year	Extraction from patient clinical information database and secondary use. The Auditory Steady State Response test is conducted to evaluate the degree of hearing loss.

Countries

China

Outcome results