Genotype-phenotype Correlation Study of Presymptomatic and Symptomatic DFNA9 Patients
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorJessa Hospital
About this trial
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 criteria
This trial does not accept healthy volunteersQualifiers
subject must be 18 year of older
subject is a family member of the family pedigree's proband(s) carrying a P51S COCH mutation
Disqualifiers
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
Trial population
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.
Trial design
Design model
Case-control
Time perspective
Cross-sectional
Treatments tested in this trial
Not listed
Trial groups
70 Participants
are grouped into 2 trial groupsGroup A: P51S+ group
Group B: P51S- group (healthy control)
Trial outcomes
Primary outcomes
1
hearing threshold
pure tone audiometry, decibel hearing loss (dB HL)
Time frame
1 year2
video HIT
video Head Impulse test, gain (eye movement versus head movement)
Time frame
1 yearSecondary outcomes
1
VEMP
c- and o-VEMP tests (vestibular-evoked myogenic potentials): threshold (decibel sound pressure level: dB SPL or dB HL)
Time frame
1 year2
DHI questionnaire
DHI (dizziness handicap index): scores the degree of imbalance perception of the patient, the higher the score, the higher the imbalance perception; normative score below 10
Time frame
1 year3
OS questionnaire
A questionnaire assessing oscillopsia severity for patients with bilateral vestibulopathy and patients with unilateral vestibular lesions. Oscillopsia was defined as a "sensation that the visual environment is moving when it's not." The 9-item questionnaire investigates oscillopsia frequency in different situations encountered in daily life. Each item was scored 1 (never), 2 (seldom), 3 (sometimes), 4 (often), or 5 (always). Scores were averaged to provide an oscillopsia severity score ranging from 1 to 5. A mean score higher than 3 is considered to indicate moderate to extreme oscillopsia severity.
Time frame
1 year4
ABC questionnaire
ABC activities specific balance confidence scale to asses individual's confidence in performing daily activities , scores from 0-100%, normative values \>80%
Time frame
1 yearSponsors and contacts
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Jessa Hospital
Lead sponsor
University Hospital, Antwerp
Collaborator
Maastricht University Medical Center
Collaborator
Source ClinicalTrials.gov