Genetic and Epigenetic Background of Inner Ear Dysfunction in Turner Syndrome

NCT06507007 | Recruiting

• 1 other identifier: LHM-TS-2024
• Study Type: observational
• Target: 150
• Locations: 1 country
• Sites: 1

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

Conditions

Sensorineural Hearing Loss; Turner Syndrome; Inner Ear Disease

Keywords

Epigenetics; Sensorineural hearing loss; Turner Syndrome; Inner Ear Dysfunction

Outcome Measures

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.

  2024-2026

Secondary Outcomes (3)

• Hearing ability

  2024-2026

• Vestibular status

  2024-2026

• Structural malformations

  2024-2026

Study Arms (3)

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

Eligibility Criteria

• Age: 18 Years - 60 Years
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• 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.

You may qualify if:

• age between 18 and 60 years old

You may not qualify if:

• 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)

Sponsors & Collaborators

• Gødstrup Hospital: lead
• University of Aarhus: collaborator
• Aarhus University Hospital: collaborator

Study Sites (1)

ENT department of Gødstrup Hospital

Herning, 7400, Denmark

RECRUITING

MeSH Terms

Conditions

Hearing Loss, Sensorineural; Turner Syndrome; Labyrinth Diseases

Condition Hierarchy (Ancestors)

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

Study Officials

• Therese Ovesen, Prof

  University Clinic of Flavour, Balance and Sleep

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Louise Hill-Madsen, MD

CONTACT

20282635; lohill@rm.dk

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Medical Doctor

Study Record Dates

• First Submitted: June 24, 2024
• First Posted: July 18, 2024
• Study Start: February 1, 2025
• Primary Completion (Estimated): June 30, 2026
• Study Completion (Estimated): July 30, 2027
• Last Updated: January 27, 2026

Record last verified: 2025-12

Locations

DK (1)