NCT04350619

NGS Assessment of Congenitally Deafned Children and Neonatal Deafness Screnning

Promote Personalized Medicine Based on Diagnostic Genomic Tools in Order to Innovate in the Early Detection of Child Deafness in the SUDOE Space (European International Project)

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 220 (estimated)
• Sponsor: Clinica Universidad de Navarra, Universidad de Navarra · Academic / Other
• Sex: All
• Age: 17 Years
• Healthy volunteers: Not accepted

Summary

To assess the diagnostic value of NGS screnning in prelingually deafned children using a new designed chip, and to evaluate its interest in a the neonatal screening program for ddetecting congenitally deafned children.

Detailed description

The aim of the study is to evaluate the diagnostic value of a new panel of gene in NGS study in children presenting : 1. A congenitally deafness : it is a retrospective study in children aged 0 to 17 yrs with hearing thresholds over 40 dB in the best ear using adapted audiometric assessment, 2. A suspicion of deafness in babies aged 0 to 6 months having an abnormal response after otoacoustic emissions and automated ABR assessment. The main outcomes studied will be the finding of a pathogenic mutation (or several mutations).

Conditions

• Congenital Deafness
• Suspicion of Congenital Deafness

Interventions

Type	Name	Description
OTHER	Genetic screening. No therapeutic intervention	Genetic screening using NGS technique. No therapeutic intervention

Timeline

• Start date: 2020-04-30
• Primary completion: 2020-12-31
• Completion: 2021-04-01
• First posted: 2020-04-17
• Last updated: 2020-04-17

Locations

1 site across 1 country: France