Genetic and Epigenetic Background of Inner Ear Dysfunction in Turner Syndrome

Recruiting

• Conditions: Inner Ear Disease; Sensorineural Hearing Loss; Turner Syndrome

• Registration Number: NCT06507007
• Lead Sponsor: Gødstrup Hospital

Brief Summary

The goal of this case-control study is to pave the way for new revolutionary treatment measures within hearing loss that could either replace or delay the need for hearing aids. The study focuses on people with Turner syndrome (TS).

The aim is to find out if there are specific DNA methylation patterns and/or RNA expression profiles linked to sensorineural hearing loss (SNHL) in people with TS. Additionally, the structure and function of the inner ear in these individuals will be examined to see if there is a connection to their epigenetic profile.

The main question it aims to answer is: Does epigenetics constitute a common denominator for some of the unexplained SNHL cases?

Turner Syndrome (TS) represents an ideal model for studying epigenetics related to sensorineural hearing loss (SNHL).

Participants will undergo the following tests:

* Ear examinations

* Hearing tests

* Balance tests

* Blood tests

* MRI scans

* CBCT (cone-beam computed tomography) scans

Detailed Description

Not available

Study Timeline

• Status Verified: 2024-06
• Study First Submitted: 2024-06-24
• Study First Submitted QC: 2024-07-16
• Study First Posted: 2024-07-18
• Study Start: 2025-02-01
• Last Update Submitted: 2025-04-25
• Last Update Posted: 2025-04-30
• Primary Completion: 2026-08-31
• Study Completion: 2027-07-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: Female
• Target Recruitment: 150

Inclusion Criteria

• age between 18 and 60 years old

Exclusion Criteria

• Contraindications for the MRI or CBCT
• Serious medical disorders
• Neurological or psychiatric disorders of any kind
• Use of medication that is known to influence inner ear function
• Medical history with dizziness or hearing problems (controls only)

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Epigenetic profile	2024-2026	DNA methylation analyses are conducted on the purified DNA. RNA expression analyses and ChIP-seq are performed on the purified RNA. Based on this, the epigenetic profile will be mapped to identify consistent differences associated with SNHL.

Secondary Outcome Measures

Name	Time	Method
Hearing ability	2024-2026	Hearing level thresholds and bone conduction is assesed by pure tone audiometry.
Structural malformations	2024-2026	Anatomy and inner ear malformations are examined using Conebeam CT and MRI.
Vestibular status	2024-2026	The vestibular function is assessed using the video head impulse test (vHIT), vestibular evoked myogenic potentials, and posturography.

Trial Locations

Locations (1)

ENT department of Gødstrup Hospital; 🇩🇰 Herning, Denmark