NGS Assessment of Congenitally Deafned Children and Neonatal Deafness Screnning

• Conditions: Congenital Deafness; Suspicion of Congenital Deafness
• Interventions: Other: Genetic screening. No therapeutic intervention

• Registration Number: NCT04350619
• Lead Sponsor: Clinica Universidad de Navarra, Universidad de Navarra

Brief 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).

Study Timeline

• Status Verified: 2020-03
• Study First Submitted: 2020-03-30
• Study First Submitted QC: 2020-04-14
• Last Update Submitted: 2020-04-14
• Study First Posted: 2020-04-17
• Last Update Posted: 2020-04-17
• Study Start: 2020-04-30
• Primary Completion: 2020-12-31
• Study Completion: 2021-04

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 220

Inclusion Criteria

• Retropective study

Inclusion criteria:

• Age of onset of deafness between 0 and 17 years
• With a hearing loss of one or two senses with, on the ear most affected, a hearing loss more than 40 dB in mean audiometric loss in behavioural audiometry
• Availability of detailed information in Appendix 1: History, history and course of disease, associated symptoms, otoscopy data, radiology, treatments and hearing aids implemented.
• Availability of DNA samples stored in an existing collection.
• Consent to participate in the study (non-opposition) by the legal representative

Exclusion Criteria

• Exclusion criteria:

  • Child with a known cause of observed deafness (meningitis, post-surgery or drug iatrogenic, trauma, infections, tumor)
  • Family not willing to participate in the study

Prospective study

Inclusion criteria:

• Age of the child 0 to 6 months including corrected age having had on at least one of the two ears a lack of acoustic otoemissions and a lack of response in automated PEA, and a threshold of PEA at least on one ear at more than 40 dB.
• Availability of detailed information in Appendix 2: Personal history, family history of deafness, associated symptoms, tympanometry, otoscopy data, neonatal deafness test data.
• Collection of the consent of the legal representative

Exclusion criteria:

· Family not willing to participate in the study

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Genetic study in retrospective and prospective groups	Genetic screening. No therapeutic intervention	Genetic screening using NGS technique in a retrospective and prospective groups. No therapeutic intervention

Primary Outcome Measures

Name	Time	Method
Prevalence of mutation	1 day	It will realized the extraction blood sample in the same day and clinical information will be collected also.

Secondary Outcome Measures

Name	Time	Method
Phenotyping the mutation	1 day	Clinical information for each patient will be define for the following variables: age and gender, medical antecedents, audiometric data, other syndromic syntomps, ear radiologic data and type of treatment for treating the hearing loss.

Trial Locations

Locations (1)

Chu Montpellier; 🇫🇷 Montpellier, France