The purpose of this study is to characterize and assess the evolution of hearing impairment of patients with adulthood-onset bilateral sensorineural hearing loss carrying mutations on GJB2 gene.
This study aims to characterize patients with adulthood-onset bilateral sensorineural hearing loss not due to any underlying medical condition (likely due to a genetic cause) and to assess the evolution of hearing impairment of those carrying mutations in GJB2 gene. Patients who present with adulthood-onset bilateral sensorineural hearing loss will be screened for the presence of mutation involved in hearing impairment. Patients with GJB2 mutations will be proposed to continue in a follow-up period.
Study Type
OBSERVATIONAL
Enrollment
100
Genotyping to determine if patients present mutations to the gene GJB2.
Audiological assessments
The University of South Florida Board of Trustees
Tampa, Florida, United States
RECRUITINGCHU Gui de Chauliac
Montpellier, France
RECRUITINGEvolution of hearing impairment of adult patients with early-onset presbycusis carrying mutations in GJB2 gene.
Evolution of hearing impairment assessed by Pure Tone Audiometry
Time frame: 2 years
Evolution of hearing impairment of adult patients with early-onset presbycusis carrying mutations in GJB2 gene
Evolution of hearing impairment assessed by Speech in noise
Time frame: 2 years
Genetic characteristics of adult patients with early-onset presbycusis
Genotyping
Time frame: Unique visit
Audiological characteristics of adult patients with early-onset presbycusis
Pure Tone Audiometry
Time frame: Unique visit
Mood evaluation in adult patients with early-onset presbycusis carrying mutations in GJB2 gene
Mood evaluation assessed with Patient Health Questionnaire for depression (PHQ-9)
Time frame: 2 years
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.