Development of a Battery of Audiological Tests for the Precision Diagnosis of Age-related Hearing Loss

Institut Pasteur700 enrolled

Overview

Age-related hearing loss, or presbycusis, is caused by many genetic and environmental factors. Its prevalence poses a public health challenge of early identification and effective hearing aid treatment. However, the lack of screening and of a validated audiological test battery to diagnose an individual's needs and to guide hearing aid adjustments is a major obstacle. Furthermore, monogenic forms of hearing loss affect only one functional module of hearing. The audiological test(s) dependent on the function of this module are affected, in a progressive manner, but not the others. A previous study showed that in early onset presbycusis patients, a quarter of the subjects tested were affected by monogenic presbycusis. The collection of audiological and vestibular tests, carried out on proven monogenic presbycusis patients and compared to that of normal hearing patients, would constitute a battery of tests allowing a precision diagnosis, then developed to all forms of presbycusis in order to study if the identification of abnormal functional modules can usefully guide the diagnosis and the early fitting.

The AUDIOGENAGE project is a multi-center, non-invasive case-control study conducted by CERIAH (CEntre de Recherche et d'Innovation en Human Audiology) and LCA (Laboratory de correction auditive) in 700 volunteer participants identified in two groups: * 500 Patients with age-related hearing loss of anticipated onset, * 200 Control subjects, considered as normal hearing for their age at inclusion. All participants will undergo 6h audiological and vestibular tests, and also neurocognitive test (self-questionnaire). These tests will be conducted over 2 to 4 visits. A 10 mL-blood sample will be collected for a genetic analysis.

Study Type

INTERVENTIONAL

Allocation

Purpose

DIAGNOSTIC

Masking

NONE

Enrollment

700

Interventions

Audiological and vestibular testsOTHER

6h of audiological and vestibular tests divide in 3 sessions : * Session A : objective audiological tests * Session B ; subjective audiological tests * Session C : balance tests.

Blood samplingOTHER

A 10 mL blood sample will be collected during the study.

neurocognitive self-questionnaireOTHER

Four self-questionnaires to fill out to measure sleep quality, memory and emotional state

Eligibility

Sex: ALLMin age: 18 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: For all participants: * Be over the age of 18, * Be affiliated to a social security system, * Have a good command of the French language (oral and written). For the group of participants with anticipated presbycusis: * Over the age of 40, having a hearing aid recipient or coming for a first hearing aid recipient * Between 18 and 40, having a hearing aid recipient, coming for a first hearing aid recipient or declare a progressive genetic birth defect For healthy volunteers: \- Have no known hearing loss. Exclusion Criteria: * Report having been chronically exposed to loud sounds. * Have a history of ototoxic substances, * To have sequelae of ear infections and/or a history of ENT disease that permanently affects hearing or balance, * Have an ethnic origin for which the Pasteur Institute does not have information on the frequency of variants of the genes studied. * Have type II diabetes, * Have a neurological or psychiatric condition that interferes with comprehension or ability to move, * Be under guardianship, * Be deprived of liberty by judicial or administrative decision, or be subject to legal protection, * Not being subject to a social security system, * Taking narcotic substances, alcohol or medication that diminishes cognitive abilities.

Outcomes

Primary Outcomes

Measurement of specificity and sensitivity of the audiological test battery in participants with early-onset presbycusis after identification of pathogenic variants by sequencing and division into subgroups.

specifity and sensitivity will be calculated to identify which tests or combinations of audiological and vestibular tests will be the most discriminating in characterizing each functional module of hearing from participants with monogenic forms of presbycusis of anticipated onset, each affecting a determined functional module, in comparison with an age-matched control group.

Time frame: 2 years

Secondary Outcomes

Normative values for audiological and vestibular tests will be determined

Measurement of values by age range for all audiological and vestibular tests from the results of participants in the control group

Time frame: 4 years and 6 months

Whole-exome sequencing of samples from participants with non-monogenic presbycusis

Whole-exome sequencing will be performed to establish a list of new candidate genes for predisposition to presbycusis.