MITOPRES: Mitochondrial Genetics of Presbycusis
Study Details
Study Description
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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
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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 Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| presbycusis affected patients affected by a more severe age related hearing loss than expected according to the norm ISO 7029 |
|
| controls not affected by age related hearing loss according to the norm ISO 7029 |
Outcome Measures
Primary Outcome Measures
- 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
- 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
- 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
Other Outcome Measures
- identification of clinical features predicting some presbycusis forms [the analysis will be conducted at the end of the inclusion of the 200 patients]
analysis of audiometric data after genetic analysis will be performed
Eligibility Criteria
Criteria
Inclusion Criteria:
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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
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | UH Angers | Angers | France | 49933 |
Sponsors and Collaborators
- University Hospital, Angers
Investigators
None specified.Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- 49RC18_0148