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Genotype-phenotype Correlation Study of Presymptomatic and Symptomatic DFNA9 Patients

NCT ID: NCT03716908

Last Updated: 2021-10-28

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

70 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-06-01

Study Completion Date

2026-11-30

Brief Summary

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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.

Detailed Description

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Systematic review of the genotype-phenotype correlation studies in P51S carriers has shown an underrepresentation of presymptomatic affected subjects and the calculation of vestibular deterioration were based on just one vestibular parameter, whereas the combined evaluation of a complete vestibular test battery, covering the complete vestibular sensitivity range and all labyrinthine compartments separately, is nowadays considered standard practice in determining more accurate assessment of the vestibular function.

For this reason, a prospective cross-sectional study on pre- as well as symptomatic DFNA9 patients carrying the Pro51Ser (P51S) mutation in COCH gene is being carried out, in order to gain more realistic data on vestibular dysfunction, consisting of pure tone audiometry and a comprehensive vestibular test battery, including electro- or videonystagmography (VNG), C- and O-Vestibular-evoked myogenic potential (VEMP) tests, video Head Impulse Test (vHIT) and questionnaires (DHI (Dizziness handicap Index), oscillopsia questionnaire (OS), Quality of Life Questionnaire (EQ-5D-5L), activities-specific balance confidence (ABC) scale.

Conditions

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Vestibular Diseases DFNA9

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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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

No interventions assigned to this group

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

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* subject must be 18 year of older
* subject is a family member of the family pedigree's proband(s) carrying a P51S COCH mutation

Exclusion Criteria

* 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)
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Hospital, Antwerp

OTHER

Sponsor Role collaborator

Maastricht University Medical Center

OTHER

Sponsor Role collaborator

Jessa Hospital

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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University of Antwerp

Antwerp, , Belgium

Site Status RECRUITING

Countries

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Belgium

Central Contacts

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sebastien PF JanssensdeVarebeke, MD

Role: CONTACT

Phone: 011337420

Email: [email protected]

Vincent Van Rompaey, PhD, MD

Role: CONTACT

Phone: 038213385

Email: [email protected]

Facility Contacts

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Vincent Van Rompaey, PhD, MD

Role: primary

References

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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.

Reference Type DERIVED
PMID: 34369417 (View on PubMed)

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 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.

Reference Type DERIVED
PMID: 34369416 (View on PubMed)

Other Identifiers

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JessaHORL2

Identifier Type: -

Identifier Source: org_study_id