NGS Assessment of Congenitally Deafned Children and Neonatal Deafness Screnning

NCT04350619 | Unknown

• 1 other identifier: GHELP
• Study Type: observational
• Target: 220
• Locations: 1 country
• Sites: 1

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.

Conditions

Congenital Deafness; Suspicion of Congenital Deafness

Keywords

Deafness; child

Outcome Measures

Primary Outcomes (1)

• Prevalence of mutation

  It will realized the extraction blood sample in the same day and clinical information will be collected also.

  1 day

Secondary Outcomes (1)

• Phenotyping the mutation

  1 day

Study Arms (1)

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

Interventions

Genetic screening. No therapeutic intervention OTHER

Genetic screening using NGS technique. No therapeutic intervention

Genetic study in retrospective and prospective groups

Eligibility Criteria

• Age: Up to 17 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Probability Sample

Study Population

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

You may qualify if:

• Retropective study
• 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

You may not qualify if:

• 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
• 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
• · Family not willing to participate in the study

Sponsors & Collaborators

• Clinica Universidad de Navarra, Universidad de Navarra: lead
• Instituto de Salud Pública y Laboral de Navarra: collaborator
• Biogipuzkoa Health Research Institute: collaborator
• DREAMgenics S.L.: collaborator
• Hospital CUF Porto, S.A.: collaborator
• Centro Hospitalar de Lisboa Central: collaborator
• University Hospital, Montpellier: collaborator
• University Hospital, Toulouse: collaborator

Study Sites (1)

Chu Montpellier

Montpellier, 34295, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample for genetic study

MeSH Terms

Conditions

Deafness

Condition Hierarchy (Ancestors)

Hearing Loss; Hearing Disorders; Ear Diseases; Otorhinolaryngologic Diseases; Sensation Disorders; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Michael Mondain, ENT

  University Hospital, Montpellier

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Manuel Jesús M Manrique Rodriguez, ENT

CONTACT

948255400; mmanrique@unav.es

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 30, 2020
• First Posted: April 17, 2020
• Study Start: April 30, 2020
• Primary Completion: December 31, 2020
• Study Completion: April 1, 2021
• Last Updated: April 17, 2020

Record last verified: 2020-03

Locations

FR (1)