At a glance
ClinicalIndex Comparison RecordStandardized by ClinicalIndex from the ClinicalTrials.gov record · verify against the source.
Evaluation of a Cohort of Congenital Deep Deafness Patients and/or With Auditory Neuropathy, Looking for DFNB9
In Brief
An observational study evaluating Data collection and Genetic analysis for Congenital Profound Hearing Loss. Completed, enrolled 150 participants across 1 site.
Detailed Summary
Evaluation of a cohort of deaf children looking for autosomal recessive deafness-9 (DFNB9). Clinical and audiologic evaluation of patients with known auditive neuropathy / auditory dys-synchrony (ANAD) or recently diagnosed congenital severe to profound hearing loss (HL), and assessing genetic analysis looking for DFNB9. The investigators expect to compile genotypic and phenotypic characterization of 25 children with DFNB9 within 4 years.
Study Details
Timeline
Interventions
Retrospective collection data from diagnostic Data collected following to medical exam as part of care
Research of mutation and identification of genetic panel as part of care