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

Status: Recruiting
Location: See location...
Study Type: Observational
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. 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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
View:

• subject must be 18 year of older

• subject is a family member of the family pedigree's proband(s) carrying a P51S COCH mutation

Locations
Other Locations
Belgium
University of Antwerp
RECRUITING
Antwerp
Contact Information
Primary
sebastien PF JanssensdeVarebeke, MD
sebastien.janssensdevarebeke@jessazh.be
011337420
Backup
Vincent Van Rompaey, PhD, MD
vincent.vanrompaey@uza.be
038213385
Time Frame
Start Date: 2018-06-01
Estimated Completion Date: 2026-11-30
Participants
Target number of participants: 70
Treatments
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
Related Therapeutic Areas
Sponsors
Collaborators: University Hospital, Antwerp, Maastricht University Medical Center
Leads: Jessa Hospital

This content was sourced from clinicaltrials.gov