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NCT Number: NCT06507007

Genetic and Epigenetic Background of Inner Ear Dysfunction in Turner Syndrome

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

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Key information

Conditions

Sensorineural Hearing Loss Cardiovascular Abnormalities Cardiovascular Diseases Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disorders of Sex Development Ear Diseases Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Gonadal Disorders Gonadal Dysgenesis Hearing Disorders Hearing Loss Hearing Loss, Sensorineural Heart Defects, Congenital Heart Diseases Inner Ear Disease Labyrinth Diseases Male Urogenital Diseases Nervous System Diseases Neurologic Manifestations Otorhinolaryngologic Diseases Pathological Conditions, Signs and Symptoms Sensation Disorders Sex Chromosome Disorders Sex Chromosome Disorders of Sex Development Signs and Symptoms Turner Syndrome Urogenital Abnormalities Urogenital Diseases

Age range

18 year–60 year

Sex eligibility

Female

Study type

Observational

Primary location

ENT department of Gødstrup Hospital

Herning, 7400, Denmark

Location status: Recruiting

Location contact

Louise Hill-Madsen, MD, PhD student

CONTACT

[email protected]

(45+) 78439744

Louise Hill-Madsen, MD, PhD student

PRINCIPAL_INVESTIGATOR

Therese Ovesen, Professor

CONTACT

[email protected]

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

Primary outcomes

  1. Epigenetic profile

    Time frame: 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 outcomes

  1. Hearing ability

    Time frame: 2024-2026

    Hearing level thresholds and bone conduction is assesed by pure tone audiometry.

  2. Vestibular status

    Time frame: 2024-2026

    The vestibular function is assessed using the video head impulse test (vHIT), vestibular evoked myogenic potentials, and posturography.

  3. Structural malformations

    Time frame: 2024-2026

    Anatomy and inner ear malformations are examined using Conebeam CT and MRI.

Study contacts

Contact information is provided by the study sponsor or research team.

Louise Hill-Madsen, MD

CONTACT

[email protected]

20282635 ext. 0045

Sponsors and collaborators

Lead sponsor

Gødstrup Hospital

Other

Collaborators

  • Aarhus University Hospital
  • University of Aarhus

Registry information

Acronym: EPIHEAR

Important dates

Study start
2025
Primary completion
2026
Study completion
2027
First posted
Jul 18, 2024
Registry last updated
Jan 27, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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