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.
1 other identifier
observational
70
1 country
1
Brief 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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
Started Jun 2018
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
June 1, 2018
CompletedFirst Submitted
Initial submission to the registry
October 19, 2018
CompletedFirst Posted
Study publicly available on registry
October 23, 2018
CompletedPrimary Completion
Last participant's last visit for primary outcome
February 15, 2020
CompletedStudy Completion
Last participant's last visit for all outcomes
November 30, 2026
ExpectedOctober 28, 2021
August 1, 2021
1.7 years
October 19, 2018
October 27, 2021
Conditions
Outcome Measures
Primary Outcomes (2)
hearing threshold
pure tone audiometry, decibel hearing loss (dB HL)
1 year
video HIT
video Head Impulse test, gain (eye movement versus head movement)
1 year
Secondary Outcomes (7)
VEMP
1 year
DHI questionnaire
1 year
OS questionnaire
1 year
ABC questionnaire
1 year
EQ-5D-5L questionnaire
1 year
- +2 more secondary outcomes
Study Arms (2)
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
Eligibility Criteria
all family pedigree in which at least one proband is carrying the Pr51Ser (P51S) mutation in the COCH gene that are known in three tertiary referral centers: University Hospital Antwerp, Maastricht University Medical Centre and Jessa Hospital Hasselt.
You may qualify if:
- subject must be 18 year of older
- subject is a family member of the family pedigree's proband(s) carrying a P51S COCH mutation
You may not qualify if:
- 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)
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Jessa Hospitallead
- University Hospital, Antwerpcollaborator
- Maastricht University Medical Centercollaborator
Study Sites (1)
University of Antwerp
Antwerp, 2650, Belgium
Related Publications (2)
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.
PMID: 34369417DERIVEDJanssensdeVarebeke 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.
PMID: 34369416DERIVED
Biospecimen
blood samples for the genetic diagnosis of carriership of P51S COCH mutation
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- CASE CONTROL
- Time Perspective
- CROSS SECTIONAL
- Target Duration
- 1 Year
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
October 19, 2018
First Posted
October 23, 2018
Study Start
June 1, 2018
Primary Completion
February 15, 2020
Study Completion (Estimated)
November 30, 2026
Last Updated
October 28, 2021
Record last verified: 2021-08
Data Sharing
- IPD Sharing
- Will not share