NGS Assessment of Congenitally Deafned Children and Neona... | NCT04350619

Studies
NGS Assessment of Congenitally Deafned Children and Neonatal Deafness Screnning

NCT04350619

Sponsor

Clinica Universidad de Navarra, Universidad de Navarra

Status

Unknown status

Last Update Posted

Apr 17, 2020Actual

Enrollment

220Estimated

Phase

Not provided

Conditions

Congenital Deafness
Suspicion of Congenital Deafness

Interventions

Genetic screening. No therapeutic intervention

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Mar 2020

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Not yet recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Apr 30, 2020Estimated

Primary Completion Date

Dec 31, 2020Estimated

Completion Date

Apr 2021Estimated

First Submitted Date

Mar 30, 2020

First Submission Date that Met QC Criteria

Apr 14, 2020

First Posted Date

Apr 17, 2020Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Apr 14, 2020

Last Update Posted Date

Apr 17, 2020Actual

Name	Class
Instituto de Salud Pública y Laboral de Navarra	UNKNOWN
Biogipuzkoa Health Research Institute	OTHER
DREAMgenics S.L.	UNKNOWN
Hospital CUF Porto, S.A.

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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 :

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,
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).

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

220Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
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

Name	Type	Description	Arm Group Labels	Other Names
Genetic screening. No therapeutic intervention	Other	Genetic screening using NGS technique. No therapeutic intervention	Genetic study in retrospective and prospective groups

Outcomes Module

Primary Outcomes

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 Outcomes

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

Other Outcomes

Not provided

Eligibility Module

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

17 Years

Standard Ages

Child

Study Population

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

Sampling Method

Probability Sample

ID	Term
D034381	Hearing Loss
D006311	Hearing Disorders
D004427	Ear Diseases
D010038	Otorhinolaryngologic Diseases