Mitochondrial Genetics of Presbycusis

• Conditions: Presbycusis; Age Related Hearing Loss

• Registration Number: 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 .

Study Timeline

• Study First Submitted: 2018-10-24
• Study First Submitted QC: 2018-10-24
• Study First Posted: 2018-10-26
• Status Verified: 2019-04
• Study Start: 2019-04
• Last Update Submitted: 2019-04-09
• Last Update Posted: 2019-04-11
• Primary Completion: 2022-11
• Study Completion: 2023-11

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 200

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
identification of mitochondrial mutations associated with presbycusis	the analysis will be conducted at the end of the inclusion of the 200 patients	Enrichment analysis will be perfomed with CHI2 test after Benjamini correction.

Secondary Outcome Measures

Name	Time	Method
identification of DNA variants associated with environmental susceptibility	the analysis will be conducted at the end of the inclusion of the 200 patients	subgroup analysis will be performed in accordance with environmental exposition
identification of genomic variants associated with presbycusis	the analysis will be conducted at the end of the inclusion of the 200 patients	enrichment of genomic variants will be analysed

Trial Locations

Locations (1)

UH Angers; 🇫🇷 Angers, France