Hearing Loss, Sensorineural, Bilateral Vestibular Deficiency, DFNA9, Radiology
Conditions
Brief summary
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.
Interventions
DIAGNOSTIC_TESTvestibular test 1
videonystagmography
DIAGNOSTIC_TESTvestibular test 2
video head impulse test
DIAGNOSTIC_TESTvestibular evoked myogenic potentials
vestibular evoked myogenic potentials to measure the function of otolith organs
DIAGNOSTIC_TESTaudiometry
tonal liminar audiometric thresholds
DIAGNOSTIC_TESTCT and MR imaging of temporal bone
Ct and MR imaging of temporal bone
GENETICp.P51S mutation
analysis of presence of p.P51S mutation in COCH
Sponsors
Jessa Hospital
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 90 Years
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| CT and MR findings | at time of recruitment | presence of focal sclerosis or signal loss on CT & MR at one or more semicircular canals |
| genetic test | at time of recruitment | p.P51S mutation in COCH gene |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| vestibular test 1 | at time of recruitment | video nystagmography using caloric tests ; caloric tests: °/s |
| vestibular test 2 | at time of recruitment | video head impulse test; gain for each SCC in °/s |
| vestibular test 3 | at time of recruitment | vestibular evoked myogenic potentials: threshold in decibel normal hearing loss (dB nHL) |
| audiometry | at time of recruitment | tonal liminar audiometry using calibrated audiometer, threshold in dB HL |
Countries
Belgium
Contacts
Primary Contactsebastien p JanssensdeVarebeke, MD
Outcome results
None listed