Mitochondrial Genetics of Presbycusis

  • STATUS
    Recruiting
  • End date
    Nov 22, 2023
  • participants needed
    200
  • sponsor
    University Hospital, Angers
Updated on 22 January 2021

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.

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 .

Details
Condition Presbycusis
Clinical Study IdentifierNCT03720964
SponsorUniversity Hospital, Angers
Last Modified on22 January 2021

Eligibility

Yes No Not Sure

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
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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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