Genetic and Epigenetic Background of Inner Ear Dysfunctio... | NCT06507007

Studies
Genetic and Epigenetic Background of Inner Ear Dysfunction in Turner Syndrome

NCT06507007

Sponsor

Gødstrup Hospital

Status

Recruiting

Last Update Posted

Jan 27, 2026Actual

Enrollment

150Estimated

Phase

Not provided

Conditions

Sensorineural Hearing Loss
Turner Syndrome
Inner Ear Disease

Interventions

Not provided

Countries

Denmark

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Dec 2025

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Feb 1, 2025Actual

Primary Completion Date

Jun 30, 2026Estimated

Completion Date

Jul 30, 2027Estimated

First Submitted Date

Jun 24, 2024

First Submission Date that Met QC Criteria

Jul 16, 2024

First Posted Date

Jul 18, 2024Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jan 24, 2026

Last Update Posted Date

Jan 27, 2026Actual

Name	Class
University of Aarhus	OTHER
Aarhus University Hospital	OTHER

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

150Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
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

Interventions

Not provided

Outcomes Module

Primary Outcomes

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 Outcomes

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.

Other Outcomes

Not provided

Eligibility Module

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)

Accepts Healthy Volunteers

Yes

Sex

Female

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

60 Years

Standard Ages

Adult

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.

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Louise Hill-Madsen, MD	Contact	20282635	0045	lohill@rm.dk

Overall Officials

Name	Affiliation	Role
Therese Ovesen, Prof	University Clinic of Flavour, Balance and Sleep	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
ENT department of Gødstrup Hospital	Recruiting	Herning		7400	Denmark

Condition Browse Module

MeSH Terms

ID	Term
D006319	Hearing Loss, Sensorineural
D014424	Turner Syndrome
D007759	Labyrinth Diseases

Ancestor Terms

ID	Term
D034381	Hearing Loss
D006311	Hearing Disorders
D004427	Ear Diseases
D010038	Otorhinolaryngologic Diseases

Browse Leaves

Not provided

Browse Branches

Not provided