Genetic and Epigenetic Background of Inner Ear Dysfunction in Turner Syndrome
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexFemale
Age18-60
SponsorGødstrup Hospital
About this trial
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
Eligibility criteria
This trial accepts healthy volunteersQualifiers
age between 18 and 60 years old
Disqualifiers
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
Trial population
Three different populations will be included as it is expected that 50% of the TS population suffer from SNHL: * 50 individuals with TS and SNHL * 50 individuals with TS without SNHL * 50 healthy controls without TS and SNHL The participants are recruited from an existing cohort.
Trial design
Design model
Case-control
Time perspective
Cross-sectional
Treatments tested in this trial
Not listed
Trial groups
150 Participants
are grouped into 3 trial groupsGroup A: Group 1
Group B: Group 2
Group C: Group 3
Trial outcomes
Primary outcomes
1
Epigenetic profile
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.
Time frame
2024-2026Secondary outcomes
1
Hearing ability
Hearing level thresholds and bone conduction is assesed by pure tone audiometry.
Time frame
2024-20262
Vestibular status
The vestibular function is assessed using the video head impulse test (vHIT), vestibular evoked myogenic potentials, and posturography.
Time frame
2024-20263
Structural malformations
Anatomy and inner ear malformations are examined using Conebeam CT and MRI.
Time frame
2024-2026Sponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov