NGS Assessment of Congenitally Deafned Children and Neonatal Deafness Screnning (GHELP)

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)

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.

Study Overview

• Status: Unknown
• Conditions: Congenital Deafness; Suspicion of Congenital Deafness
• Intervention / Treatment: Other: Genetic screening. No therapeutic intervention

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 Type: Observational
• Enrollment (Anticipated): 220

Contacts and Locations

• Study Contact: Name: Manuel Jesús M Manrique Rodriguez, ENT; Phone Number: 4651 948255400; Email: mmanrique@unav.es

Study Locations

• France
  • Montpellier, France, 34295
    • CHU Montpellier
    • Contact: Michael Mondain, Prof; Email: m-mondain@chu-montpellier.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 15 years (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

There are 2 groups: retrospective and prospective which their characteristiques are described in the previous eligibility criteria.

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Cross-Sectional

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Genetic study in retrospective and prospective groups; Genetic screening using NGS technique in a retrospective and prospective groups. No therapeutic intervention	Other: Genetic screening. No therapeutic intervention; Genetic screening using NGS technique. No therapeutic intervention

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Prevalence of mutation	It will realized the extraction blood sample in the same day and clinical information will be collected also.	1 day

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Phenotyping the mutation	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.	1 day

Collaborators and Investigators

• Sponsor: Clinica Universidad de Navarra, Universidad de Navarra
• Collaborators: University Hospital, Montpellier; University Hospital, Toulouse; Asociacion Instituto Biodonostia; Centro Hospitalar de Lisboa Central; Instituto de Salud Pública y Laboral de Navarra; DREAMgenics S.L.; Hospital CUF Porto, S.A.
• Investigators: Principal Investigator: Michael Mondain, ENT, University Hospital, Montpellier

Study record dates

Study Major Dates

• Study Start (Anticipated): April 30, 2020
• Primary Completion (Anticipated): December 31, 2020
• Study Completion (Anticipated): April 1, 2021

Study Registration Dates

• First Submitted: March 30, 2020
• First Submitted That Met QC Criteria: April 14, 2020
• First Posted (Actual): April 17, 2020

Study Record Updates

• Last Update Posted (Actual): April 17, 2020
• Last Update Submitted That Met QC Criteria: April 14, 2020
• Last Verified: March 1, 2020

More Information

Terms related to this study

• Keywords: child; Deafness
• Additional Relevant MeSH Terms: Nervous System Diseases; Neurologic Manifestations; Otorhinolaryngologic Diseases; Ear Diseases; Sensation Disorders; Hearing Disorders; Hearing Loss; Deafness
• Other Study ID Numbers: GHELP

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No