Actively Recruiting
Genotype-phenotype Correlation Study of Presymptomatic and Symptomatic DFNA9 Patients
Led by Jessa Hospital · Updated on 2021-10-28
70
Participants Needed
1
Research Sites
443 weeks
Total Duration
On this page
Sponsors
J
Jessa Hospital
Lead Sponsor
U
University Hospital, Antwerp
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Genotype-phenotype Correlation Study of Presymptomatic and Symptomatic DFNA9 Patients
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 18 years of age or older
- Must be a family member of the family pedigree's proband(s) carrying a Pro51Ser (P51S) COCH mutation
You will not qualify if you...
- Younger than 18 years
- Not a family member of the pedigree's proband(s) carrying a P51S mutation
- Unable to undergo medical or mental investigations
- Not willing to participate in the study
- Have other middle or inner ear diseases
- Have had middle ear or inner ear surgery
- Have other vestibular diseases besides DFNA9
- Have had vestibular surgery or non-invasive vestibular treatments such as gentamicin intratympanal injections
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
University of Antwerp
Antwerp, Belgium, 2650
Actively Recruiting
Research Team
S
sebastien PF JanssensdeVarebeke, MD
CONTACT
V
Vincent Van Rompaey, PhD, MD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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