Status:
UNKNOWN
NGS Assessment of Congenitally Deafned Children and Neonatal Deafness Screnning
Lead Sponsor:
Clinica Universidad de Navarra, Universidad de Navarra
Collaborating Sponsors:
Instituto de Salud Pública y Laboral de Navarra
Biogipuzkoa Health Research Institute
Conditions:
Congenital Deafness
Suspicion of Congenital Deafness
Eligibility:
All Genders
Up to 17 years
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...
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...
Eligibility Criteria
Inclusion
- 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
- 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
Key Trial Info
Start Date :
April 30 2020
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
April 1 2021
Estimated Enrollment :
220 Patients enrolled
Trial Details
Trial ID
NCT04350619
Start Date
April 30 2020
End Date
April 1 2021
Last Update
April 17 2020
Active Locations (1)
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1
Chu Montpellier
Montpellier, France, 34295