Genetic and Epigenetic Background of Inner Ear Dysfunction in Turner Syndrome
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Sensorineural Hearing Loss, Turner Syndrome, Inner Ear Disease. Basic parameters: 18 years — 60 years · Female.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Denmark
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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
Primary outcome measures
- Epigenetic profile [Time frame: 2024-2026]
Secondary outcome measures (3)
- Hearing ability [Time frame: 2024-2026]
- Vestibular status [Time frame: 2024-2026]
- Structural malformations [Time frame: 2024-2026]
Eligibility criteria
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)
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Case-control
Study locations
Denmark · 1 center
- ENT department of Gødstrup Hospital — Herning
Identifiers
NCT: NCT06507007 · LHM-TS-2024