Correlation of Radiological Lesions With Vestibular Function in Patients With Bilateral Vestibulopathy

Study Overview
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Brief Summary
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In 2014 radiologic lesions were detected at one or more semicircular canals using CT and MR imaging of temporal bone in subjects carrying the p.P51S mutation in COCH. These lesions are believed to present at more advanced stages of the hearing and vestibular deterioration. Since then, other authors have described similar lesions in advanced non-genetic hearing and vestibular impairment as well. The purpose of this study is therefore to assess the radiologic investigation using CT and MR imaging of temporal bone to all subjects presenting with bilateral vestibulopathy, using the Barany criteria, compared to the p.P51S population.

Official Title
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Correlation of Radiological Lesions With Vestibular Function in Patients With Bilateral Vestibulopathy

Conditions
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Hearing Loss, Sensorineural, Bilateral Vestibular Deficiency, DFNA9, Radiology

Intervention / Treatment
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* Diagnostic Test: vestibular test 1
* Diagnostic Test: vestibular test 2
* Diagnostic Test: vestibular evoked myogenic potentials
* Diagnostic Test: audiometry
* Diagnostic Test: CT and MR imaging of temporal bone
* Genetic: p.P51S mutation


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: must meet the Barany criteria for bilateral vestibulopathy: bilaterally pathological horizontal angu- lar VOR gain <0.6, measured by the video-HIT5 or scleral-coil technique and/or reduced caloric response6 (sum of bither- mal max. peak SPV on each side <6◦/sec7) and/or reduced horizontal angular VOR gain <0.1 upon sinusoidal stimulation on a rota- tory chair (0.1 Hz, Vmax = 50◦ /sec) and a phase lead >68 degrees (time constant <5 sec). must be 18 or older Exclusion Criteria: < 18 y does not meet Barany criteria for BV contraindication for CT and MR imaging

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 90 Years

Sexes Eligible for Study
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All

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| study group<br>all patients at least 18 years of age who present bilateral vestibulopathy on vestibular investigations according to the Barany criteria | Diagnostic Test: vestibular test 1<br>* videonystagmography<br>Diagnostic Test: vestibular test 2<br>* video head impulse test<br>Diagnostic Test: vestibular evoked myogenic potentials<br>* vestibular evoked myogenic potentials to measure the function of otolith organs<br>Diagnostic Test: audiometry<br>* tonal liminar audiometric thresholds<br>Diagnostic Test: CT and MR imaging of temporal bone<br>* Ct and MR imaging of temporal bone<br>Genetic: p.P51S mutation<br>* analysis of presence of p.P51S mutation in COCH<br>|
| control group<br>DFNA9 patients carrying the p.P51S mutation in COCH gene presenting bilateral vestibulopathy according to the Barany criteria | Diagnostic Test: vestibular test 1<br>* videonystagmography<br>Diagnostic Test: vestibular test 2<br>* video head impulse test<br>Diagnostic Test: vestibular evoked myogenic potentials<br>* vestibular evoked myogenic potentials to measure the function of otolith organs<br>Diagnostic Test: audiometry<br>* tonal liminar audiometric thresholds<br>Diagnostic Test: CT and MR imaging of temporal bone<br>* Ct and MR imaging of temporal bone<br>Genetic: p.P51S mutation<br>* analysis of presence of p.P51S mutation in COCH<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| CT and MR findings | presence of focal sclerosis or signal loss on CT & MR at one or more semicircular canals | at time of recruitment | 
| genetic test | p.P51S mutation in COCH gene | at time of recruitment | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| vestibular test 1 | video nystagmography using caloric tests ; caloric tests: °/s | at time of recruitment | 
| vestibular test 2 | video head impulse test; gain for each SCC in °/s | at time of recruitment | 
| vestibular test 3 | vestibular evoked myogenic potentials: threshold in decibel normal hearing loss (dB nHL) | at time of recruitment | 
| audiometry | tonal liminar audiometry using calibrated audiometer, threshold in dB HL | at time of recruitment |