The goal of this study is to collect a large cohort of patients mainly with NSHI. In the study cohort, the genetic causes underlying the NSHI will be determined which can be either in known or novel deafness genes. Also, the clinical characteristics…
ID
Source
Brief title
Condition
- Ear and labyrinthine disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
1, pathologic genetic variants that are known to or are likely to be causative
for hearing impairment. 2, genotype-phenotype correlations for at least part of
the genetic subtypes leading to improved counselling.
Secondary outcome
A strategy for DNA-diagnostics for hearing impairment in the Dutch population.
Background summary
Currently, many of the causative genes for syndromic hearing impairment are
known. However, especially for non-syndromic hereditary hearing impairment
(NSHI) the majority of the genes remain to be identified which means that in
~70% of NSHI patients, the genetic defect remains unknown in routine
DNA-diagnostics. Knowledge of the genetic cause is important to patients in
order to distinguish between genetic and non-genetic hearing impairment, to
give them a more grounded genetic counselling and prognosis, to distinguish in
an early stage between syndromic and non-syndromic hearing impairment, and to
determine whether treatments such as cochlear implantation may be helpful to
the patient.
Study objective
The goal of this study is to collect a large cohort of patients mainly with
NSHI. In the study cohort, the genetic causes underlying the NSHI will be
determined which can be either in known or novel deafness genes. Also, the
clinical characteristics associated with the specific genetic defects will be
determined. Collecting a large cohort of patients will help us to provide 1.
accurate genetic counselling to patients, 2. a more reliable prognosis, 3. to
discover new genes associated with hearing impairment, 4. to develop a strategy
for future routine DNA diagnostics for hereditary hearing impairment and 5.
insight in inner ear (dys)function.
Study design
Patients will be informed about the study by their ENT specialist, clinical
geneticist or audiologist. The usual diagnostic examinations for hearing
impairment will be performed (otoscopy, tympanometry, pure tone audiometry,
speech audiometry), and a blood sample will be drawn for usual DNA diagnostic
screening for hereditary hearing impairment.
Patient will receive a questionnaire, with questions about their hearing,
balance and origin of their grandparents. Besides, the patient will be asked to
give consent on the further genetic research when no mutations in known
deafnessgenes can be found.
A small number of patients will be invited for more psychophysical hearing
tests, in order to get a more detailed phenotype.
Study burden and risks
The only burden for a patient could be the possible extra examinations
(psychophysical testing, takes 1 hour). The other examinations would be
performed anyway for diagnostic purposes.
Geert Grooteplein Zuid 10
Nijmegen 6525 GA
NL
Geert Grooteplein Zuid 10
Nijmegen 6525 GA
NL
Listed location countries
Age
Inclusion criteria
patients with hearing impairment in whom common non-genetic causes for hearing impairment are excluded.
Exclusion criteria
patients with age-related hearing impairment
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL33648.091.10 |