Inner Ear Disease, Sensorineural Hearing Loss, Turner Syndrome
Conditions
Keywords
Epigenetics, Sensorineural hearing loss, Turner Syndrome, Inner Ear Dysfunction
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
Interventions
None listed
Sponsors
Gødstrup Hospital
University of Aarhus
Aarhus University Hospital
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
FEMALE
Age
18 Years to 60 Years
Healthy volunteers
Yes
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)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| Hearing ability | 2024-2026 | Hearing level thresholds and bone conduction is assesed by pure tone audiometry. |
| Vestibular status | 2024-2026 | The vestibular function is assessed using the video head impulse test (vHIT), vestibular evoked myogenic potentials, and posturography. |
| Structural malformations | 2024-2026 | Anatomy and inner ear malformations are examined using Conebeam CT and MRI. |
Countries
Denmark
Contacts
CONTACTLouise Hill-Madsen, MD
PRINCIPAL_INVESTIGATORTherese Ovesen, Prof
University Clinic of Flavour, Balance and Sleep
Outcome results
None listed