Clinical trial NCT04350619: NGS Assessment of Congenitally Deafned Children and Neonatal Deafness Screnning
Official title: 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)
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Congenital Deafness
Suspicion of Congenital Deafness
Keywords: Deafness
child
Lead sponsor: Clinica Universidad de Navarra, Universidad de Navarra
Sponsor class: OTHER
Collaborators: name: Instituto de Salud Pública y Laboral de Navarra
name: Biogipuzkoa Health Research Institute
name: DREAMgenics S.L.
name: Hospital CUF Porto, S.A.
name: Centro Hospitalar de Lisboa Central
name: University Hospital, Montpellier
name: University Hospital, Toulouse
First posted: 2020-04-17
Enrollment: 220
Sex: ALL
Maximum age (years): 17
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: PROBABILITY_SAMPLE
Study population: There are 2 groups: retrospective and prospective which their characteristiques are described in the previous eligibility criteria.

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).

Eligibility criteria: 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

Primary outcomes:
measure: Prevalence of mutation
timeFrame: 1 day
Secondary outcomes:
measure: Phenotyping the mutation
timeFrame: 1 day
Other outcomes:
Locations:
city: Montpellier
country: France
facility: Chu Montpellier
Study officials:
affiliation: University Hospital, Montpellier
name: Michael Mondain, ENT
role: PRINCIPAL_INVESTIGATOR
References: