- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03716908
Genotype-phenotype Correlation Study of Presymptomatic and Symptomatic DFNA9 Patients
Evaluation of Hearing and Vestibular Function in Presymptomatic and Symptomatic DFNA9 Patients Carrying the Pro51Ser (P51S) Mutation in the COCH Gene.
Study Overview
Status
Conditions
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.
Study Type
Enrollment (Anticipated)
Contacts and Locations
Study Contact
- Name: sebastien PF JanssensdeVarebeke, MD
- Phone Number: 011337420
- Email: sebastien.janssensdevarebeke@jessazh.be
Study Contact Backup
- Name: Vincent Van Rompaey, PhD, MD
- Phone Number: 038213385
- Email: vincent.vanrompaey@uza.be
Study Locations
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Antwerpen, Belgium, 2650
- Recruiting
- University of Antwerp
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Contact:
- Vincent Van Rompaey, PhD, MD
- Phone Number: 038213385
- Email: vincent.vanrompaey@uza.be
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Principal Investigator:
- sebastien PF JanssensdeVarebeke, MD
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
Inclusion Criteria:
- subject must be 18 year of older
- subject is a family member of the family pedigree's proband(s) carrying a P51S COCH mutation
Exclusion Criteria:
- 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)
Study Plan
How is the study designed?
Design Details
- Observational Models: Case-Control
- Time Perspectives: Cross-Sectional
Cohorts and Interventions
Group / Cohort |
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P51S+ group
Group 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 the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
hearing threshold
Time Frame: 1 year
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pure tone audiometry, decibel hearing loss (dB HL)
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1 year
|
video HIT
Time Frame: 1 year
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video Head Impulse test, gain (eye movement versus head movement)
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1 year
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
VEMP
Time Frame: 1 year
|
c- and o-VEMP tests (vestibular-evoked myogenic potentials): threshold (decibel sound pressure level: dB SPL or dB HL)
|
1 year
|
DHI questionnaire
Time Frame: 1 year
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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
|
1 year
|
OS questionnaire
Time Frame: 1 year
|
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.
|
1 year
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ABC questionnaire
Time Frame: 1 year
|
ABC activities specific balance confidence scale to asses individual's confidence in performing daily activities , scores from 0-100%, normative values >80%
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1 year
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EQ-5D-5L questionnaire
Time Frame: 1 year
|
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
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1 year
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Caloric response
Time Frame: 1 year
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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
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1 year
|
SHAT
Time Frame: 1 year
|
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
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1 year
|
Collaborators and Investigators
Sponsor
Publications and helpful links
General 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.
- 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.
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Actual)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- JessaHORL2
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
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