Genetic and Epigenetic Background of Inner Ear Dysfunction in Turner Syndrome (EPIHEAR)

Gødstrup Hospital

Status: Enrolling

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

Study type: Observational

Funder types: Other

Identifiers

NCT06507007

LHM-TS-2024

Details and patient eligibility

About

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

Enrollment: 150 estimated patients

Sex: Female

Ages: 18 to 60 years old

Volunteers: Accepts Healthy Volunteers

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)

Trial design

150 participants in 3 patient groups

Group 1

Description:

Individuals with TS and SNHL

Group 2

Description:

Individuals with TS without SNHL

Group 3

Description:

Healthy age matched controls without TS and without SNHL