The PREciSion audiology for AGE-related hearing loss project (PRESAGE): Improving the diagnosis of untimely age-related hearing loss

Age-related hearing loss (ARHL) is one of the most common sensory disorders affecting quality of life and generating significant societal costs. Early intervention is essential to mitigate progression and reduce the risk of associated cognitive decline. To improve the understanding of the complex pathophysiology, the different sensory and neural mechanisms, and the perceptual consequences of ARHL, the PREciSion audiology for AGE-related hearing loss (PRESAGE) project is taking a comprehensive approach to studying ARHL. A genotype-phenotype relationship is investigated in a group of individuals with early onset of ARHL to establish a precise diagnostic strategy. The project involves the collection of data from approximately 300 participants with early onset of ARHL and a group of approximately 80 participants with normal hearing as a control group in two locations: Oldenburg and Paris. An extensive clinically applicable audiological test battery covering psychoacoustics, speech recognition, electrophysiology and vestibular functions (phenotyping) is used. The genetic characteristics of the participants are characterized (genotyping) in collaboration with the Institut de l'Audition in Paris. The combination of genetic and audiological data provides a unique opportunity to establish a direct causal relationship between the numerous pathogenic variants observed in patients, leading to a loss of auditory function, and the subsequent consequences evident in their respective phenotypes. A first collection of phenotype and genotype data will be presented. In the long term, our goal is to identify ARHL cases as candidates for targeted therapies (e.g., better hearing aid fitting or even gene therapy) to reduce the global burden of hearing loss.