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

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

Study Overview

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

• Study Type: Observational
• Enrollment (Estimated): 150

Contacts and Locations

• Study Contact: Name: Louise Hill-Madsen, MD; Phone Number: 0045 20282635; Email: lohill@rm.dk

Study Locations

• Denmark
  • Herning, Denmark, 7400
    • Recruiting
    • ENT department of Gødstrup Hospital
    • Contact: Louise Hill-Madsen, MD, PhD student; Phone Number: (45+) 78439744; Email: lohill@rm.dk
    • Contact: Therese Ovesen, Professor; Email: theroves@rm.dk
    • Principal Investigator: Louise Hill-Madsen, MD, PhD student

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study 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.

Description

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 Plan

How is the study designed?

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort
Group 1; Individuals with TS and SNHL
Group 2; Individuals with TS without SNHL
Group 3; Healthy age matched controls without TS and without SNHL

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	2024-2026

Secondary Outcome Measures

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

Collaborators and Investigators

• Sponsor: Gødstrup Hospital
• Collaborators: Aarhus University Hospital; University of Aarhus
• Investigators: Principal Investigator: Therese Ovesen, Prof, University Clinic of Flavour, Balance and Sleep

Study record dates

Study Major Dates

• Study Start (Actual): February 1, 2025
• Primary Completion (Estimated): June 30, 2026
• Study Completion (Estimated): July 30, 2027

Study Registration Dates

• First Submitted: June 24, 2024
• First Submitted That Met QC Criteria: July 16, 2024
• First Posted (Actual): July 18, 2024

Study Record Updates

• Last Update Posted (Actual): January 27, 2026
• Last Update Submitted That Met QC Criteria: January 24, 2026
• Last Verified: December 1, 2025

More Information

Terms related to this study

• Keywords: Turner Syndrome; Epigenetics; Sensorineural hearing loss; Inner Ear Dysfunction
• Additional Relevant MeSH Terms: Urogenital Diseases; Neurologic Manifestations; Endocrine System Diseases; Nervous System Diseases; Cardiovascular Diseases; Male Urogenital Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Heart Diseases; Genetic Diseases, Inborn; Gonadal Disorders; Congenital Abnormalities; Otorhinolaryngologic Diseases; Sensation Disorders; Cardiovascular Abnormalities; Heart Defects, Congenital; Ear Diseases; Disorders of Sex Development; Urogenital Abnormalities; Hearing Loss; Hearing Disorders; Sex Chromosome Disorders; Chromosome Disorders; Sex Chromosome Disorders of Sex Development; Gonadal Dysgenesis; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Signs and Symptoms; Labyrinth Diseases; Hearing Loss, Sensorineural; Turner Syndrome
• Other Study ID Numbers: LHM-TS-2024

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No