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Vestibular DiseasesNCT03716908

Genotype-phenotype Correlation Study of Presymptomatic and Symptomatic DFNA9 Patients

An observational study of Vestibular Diseases and DFNA9, run by Jessa Hospital at 1 site in Belgium.

Recruiting

Looking for participants now. Contact the study team or a site below to ask about taking part.

Sites and contacts
Official record
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Trial summary

DFNA9 (Deafness Autosomal Dominant 9) is an autosomal dominant hereditary hearing loss which is associated with vestibular deterioration. The most recent genotype-phenotype correlation studies have been conducted more than 15 years ago. Read more about this study

Who is it for?
Ages 18 years and older
Conditions the study is for
Vestibular Diseases, DFNA9
How many people
70 participants
Where
1 siteBelgium
Study dates
1 Jun 2018to 30 Nov 2026
How long will I take part?
1 Year
Phase
Observational
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 18 years and older
  • All sexes
  • Adult, Older adult

Study population: all family pedigree in which at least one proband is carrying the Pr51Ser (P51S) mutation in the COCH gene that are known in three tertiary referral centers: University Hospital Antwerp, Maastricht University Medical Centre and Jessa Hospital Hasselt.

Who may be able to join

  • subject must be 18 year of older
  • subject is a family member of the family pedigree's proband(s) carrying a P51S COCH mutation

Who cannot join

  • subject is younger than 18 years
  • subject is not a family member of the pedigree's proband(s) carrying a P51S
  • subject cannot undergo investigations (medical and/or mental reasons)
  • subject is not willing to be enrolled into the study
  • subject suffers other concomitant middle or inner ear disease
  • subject has undergone middle ear or inner ear surgery
  • subject suffers other concomitant vestibular disease than DFNA9
  • subject has undergone vestibular surgery or other non-invasive vestibular treatment (gentamicin intratympanal injections for example)

Trial locations and contacts

1 site in 1 country. Contact the study team or a site near you to ask about taking part.

sebastien PF JanssensdeVarebeke, MD contact

011337420

sebastien.janssensdevarebeke@jessazh.be

Vincent Van Rompaey, PhD, MD contact

038213385

vincent.vanrompaey@uza.be

Belgium1 site, 1 recruiting

  • University of Antwerp

    Antwerp, 2650

    Vincent Van Rompaey, PhD, MD, 038213385, vincent.vanrompaey@uza.be

    sebastien PF JanssensdeVarebeke, MD

    Recruiting

Other trials in Belgium

About this study

Official title: Evaluation of Hearing and Vestibular Function in Presymptomatic and Symptomatic DFNA9 Patients Carrying the Pro51Ser (P51S) Mutation in the COCH Gene.

DFNA9 (Deafness Autosomal Dominant 9) is an autosomal dominant hereditary hearing loss which is associated with vestibular deterioration. The most recent genotype-phenotype correlation studies have been conducted more than 15 years ago. Meanwhile, emerging and valuable vestibular tests have been added to the vestibular test battery. These tests were not available at the time of the correlation studies. The aim of this study is to carry out a prospective cross-sectional study on symptomatic and presymptomatic affected carriers of the Pro51Ser (P51S) Coagulation Factor C Homology (COCH) mutation in order to correlate vestibular data using the complete vestibular test battery with the known data on hearing and vestibular function in relation to age.

Read the detailed description

Systematic review of the genotype-phenotype correlation studies in P51S carriers has shown an underrepresentation of presymptomatic affected subjects and the calculation of vestibular deterioration were based on just one vestibular parameter, whereas the combined evaluation of a complete vestibular test battery, covering the complete vestibular sensitivity range and all labyrinthine compartments separately, is nowadays considered standard practice in determining more accurate assessment of the vestibular function.

For this reason, a prospective cross-sectional study on pre- as well as symptomatic DFNA9 patients carrying the Pro51Ser (P51S) mutation in COCH gene is being carried out, in order to gain more realistic data on vestibular dysfunction, consisting of pure tone audiometry and a comprehensive vestibular test battery, including electro- or videonystagmography (VNG), C- and O-Vestibular-evoked myogenic potential (VEMP) tests, video Head Impulse Test (vHIT) and questionnaires (DHI (Dizziness handicap Index), oscillopsia questionnaire (OS), Quality of Life Questionnaire (EQ-5D-5L), activities-specific balance confidence (ABC) scale.

Medical subject headings
Vestibular Diseases

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Study groups in NCT03716908
Study groupRoleWhat they receive
P51S+ groupGroup 1 affected subjects (P51S+) Family member P51S mutation carrier interventions/ Questionnaire (DHI, OS, EQ-D5-5L, ABC) Pure Tone audiometry VNG vHIT c- and o-VEMP
P51S- group (healthy control)Group 2: healthy control Family member P51S non-carrier interventions: Questionnaire (DHI, OS, EQ-D5-5L, ABC) Pure Tone audiometry VNG vHIT c- and o-VEMP

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. hearing threshold

    pure tone audiometry, decibel hearing loss (dB HL)

    Measured: 1 year

  2. video HIT

    video Head Impulse test, gain (eye movement versus head movement)

    Measured: 1 year

Secondary outcomes (7)

  1. VEMP

    c- and o-VEMP tests (vestibular-evoked myogenic potentials): threshold (decibel sound pressure level: dB SPL or dB HL)

    Measured: 1 year

  2. DHI questionnaire

    DHI (dizziness handicap index): scores the degree of imbalance perception of the patient, the higher the score, the higher the imbalance perception; normative score below 10

    Measured: 1 year

  3. OS questionnaire

    A questionnaire assessing oscillopsia severity for patients with bilateral vestibulopathy and patients with unilateral vestibular lesions. Oscillopsia was defined as a "sensation that the visual environment is moving when it's not." The 9-item questionnaire investigates oscillopsia frequency in different situations encountered in daily life. Each item was scored 1 (never), 2 (seldom), 3 (sometimes), 4 (often), or 5 (always). Scores were averaged to provide an oscillopsia severity score ranging from 1 to 5. A mean score higher than 3 is considered to indicate moderate to extreme oscillopsia severity.

    Measured: 1 year

  4. ABC questionnaire

    ABC activities specific balance confidence scale to asses individual's confidence in performing daily activities , scores from 0-100%, normative values >80%

    Measured: 1 year

  5. EQ-5D-5L questionnaire

    Quality of life questionnaire:EQ-5D is a standardised measure of health status developed by the EuroQol Group in order to provide a simple, generic measure of health for clinical and economic appraisal; 5 dimensions: anxiety/depression, discomfort/pain, usual activities, mobility and self-care are evaluated in 5 levels (ranging from no problems (level 1) to extreme problems (level 5) and a Vertical Visual Analogue Scale (VAS) EQ-VAS ranging from 0 (worst health) to 100 (best health), convertible to an index value. result presentation in EQ-5D (dimensions), EQ-VAS and EQ-5D-5L index values with normative values per age group, all as a measure of central tendency and a measure of dispersion using mean values and standard deviation per age group

    Measured: 1 year

  6. Caloric response

    Caloric response using 4 successive water irrigation at 30 and 44 degrees Celsius , summation of the gain of the slow phase of the elicited nystagmus of all 4 irrigations (degrees per second) , normative values to be established for each vestibular laboratory in healthy control subjects

    Measured: 1 year

  7. SHAT

    Sinusoidal harmonic acceleration test (SHAT) of rotatory chair in the dark with open eyes, degrees per second, normative values to be established for each vestibular laboratory on healthy control subjects

    Measured: 1 year

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted23 Oct 2018
  2. Study start1 Jun 2018
  3. Primary completion15 Feb 2020
  4. Study completion30 Nov 2026 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Case-control
Time perspective
Cross-sectional
Enrolment
70 participants (estimated)
Target duration
1 Year
IDs, dates and publications
ClinicalTrials.gov ID
NCT03716908
Sponsor's protocol ID
JessaHORL2
Status last verified
Aug 2021
First submitted
19 Oct 2018
Last updated
28 Oct 2021
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Publications

  • JanssensdeVarebeke SPF, Moyaert J, Fransen E, Bulen B, Neesen C, Devroye K, van de Berg R, Pennings RJE, Topsakal V, Vanderveken O, Van Camp G, Van Rompaey V. Genotype-Phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9) Part II: A Prospective Cross-Sectional Study of the Vestibular Phenotype in 111 Carriers. Ear Hear. 2021 Nov-Dec 01;42(6):1525-1543. doi: 10.1097/AUD.0000000000001070.

    PubMed 34369417

  • JanssensdeVarebeke SPF, Moyaert J, Fransen E, Bulen B, Neesen C, Devroye K, van de Berg R, Pennings RJE, Topsakal V, Vanderveken O, Van Camp G, Van Rompaey V. Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9): Part I-A Cross-sectional Study of Hearing Function in 111 Carriers. Ear Hear. 2021 Nov-Dec 01;42(6):1508-1524. doi: 10.1097/AUD.0000000000001099.

    PubMed 34369416

Questions about this trial

What is this clinical trial studying?

An observational study of Vestibular Diseases and DFNA9, run by Jessa Hospital at 1 site in Belgium.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 2 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: looking for participants now, as of the sponsor's last update on 28 Oct 2021. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in Belgium. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

Contact sebastien PF JanssensdeVarebeke, MD (011337420, sebastien.janssensdevarebeke@jessazh.be), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

hearing threshold (time frame: 1 year). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT03716908, which also lists 2 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Oct 2021.

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