Official Title
Mitochondrial Genetics of Presbycusis
Brief Title
Mitochondrial Genetics of Presbycusis
Protocol ID
NCT03720964
Lead Sponsor
University Hospital, Angers
Brief Summary
The main goal of this study is to identify mitochondrial mutations associated with
presbycusis. Patients affected by severe presbycusis and normal hearing controls
(according to ISO7029 norm) will be enrolled if satisfying inclusion criteria (aged from
40 to 80 years old) in existing biocollections in the University Hospital of Angers.
After DNA extraction, the mitochondrial genome will be sequenced and data in silico
analysed.
Detailed Description
The study will be proposed to patients consulting in the ENT department of the University
Hospital of Angers. After clinical examination and audiometry recording, the eligibility
criteria will be checked and inclusion in biocollections proposed. Presbycusis affected
subjects will be enrolled in "Mitochondrial Disease biocollection" and normal hearing
controls in "Healthy Volunteer biocollection". These biocollections have been approved by
the board comitee "Centre de Protection des Personnes".
After DNA extraction and mitochondrial sequencing, candidate variants will be selected by
in silico analysis. The presence of mitochondrial variants in both groups (presbycusis
and control) will be compared in multivariate analysis if needed.
The nuclear DNA may be sequenced in order to complete the previous analysis and look for
any candidate variant .
Enrollment Count
200 participants
Eligibility Criteria
Inclusion Criteria:
- age related hearing loss more severe than the predicted hearing thresholds according
to the norm ISO7029, for the presbycusis population;
- normal hearing according to norm ISO7029 for the control population
Exclusion Criteria:
- deafness diagnosed before 40 years old
- exclusion criteria of one of the biocollection
Filters
Presbycusis
Age Related Hearing Loss
UNKNOWN
ADULT
OLDER_ADULT