Mitochondrial Genetics of Presbycusis (MITOPRES)

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.

Study Overview

• Status: Recruiting
• Conditions: Presbycusis; Age Related Hearing Loss

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 Type: Observational
• Enrollment (Anticipated): 200

Contacts and Locations

• Study Contact: Name: Dr Sophie Boucher; Phone Number: 0241353989; Email: sophie.boucher@chu-angers.fr
• Study Contact Backup: Name: Alban Ziegler, MD; Phone Number: 0241353883; Email: alban.ziegler@chu-angers.fr

Study Locations

• France
  • Angers, France, 49933
    • Recruiting
    • UH Angers
    • Contact: sophie Boucher, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 40 years to 80 years (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

The study is proposed to patients consulting for hearing evaluation in ENT department of University Hospital of Angers.

Description

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 Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
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

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

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

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
identification of clinical features predicting some presbycusis forms	analysis of audiometric data after genetic analysis will be performed	the analysis will be conducted at the end of the inclusion of the 200 patients

Collaborators and Investigators

• Sponsor: University Hospital, Angers

Study record dates

Study Major Dates

• Study Start (Anticipated): April 1, 2019
• Primary Completion (Anticipated): November 1, 2022
• Study Completion (Anticipated): November 1, 2023

Study Registration Dates

• First Submitted: October 24, 2018
• First Submitted That Met QC Criteria: October 24, 2018
• First Posted (Actual): October 26, 2018

Study Record Updates

• Last Update Posted (Actual): April 11, 2019
• Last Update Submitted That Met QC Criteria: April 9, 2019
• Last Verified: April 1, 2019

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Neurologic Manifestations; Otorhinolaryngologic Diseases; Ear Diseases; Sensation Disorders; Hearing Disorders; Hearing Loss, Sensorineural; Hearing Loss; Presbycusis
• Other Study ID Numbers: 49RC18_0148

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No