Congenital DeafnessGHELPNCT04350619
NGS Assessment of Congenitally Deafned Children and Neonatal Deafness Screnning
An observational study of Congenital Deafness and Suspicion of Congenital Deafness, run by Clinica Universidad de Navarra, Universidad de Navarra at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 17 years
- Conditions the study is for
- Congenital Deafness, Suspicion of Congenital Deafness
- What is being tested?
- Genetic screening. No therapeutic intervention
- How many people
- 220 participants
- Where
- 1 siteFrance
- Study dates
- 30 Apr 2020to Apr 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 17 years
- All sexes
- No healthy volunteers
- Child
Study population: There are 2 groups: retrospective and prospective which their characteristiques are described in the previous eligibility criteria.
Who may be able to join
- 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
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- 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
Who cannot join
- 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
- Family not willing to participate in the study
Trial locations and contacts
1 site in 1 country.
France1 site
Chu Montpellier
Montpellier, 34295
Michael Mondain, Prof, m-mondain@chu-montpellier.fr
About this study
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)
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.
Read the 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).
- Being tested
- Genetic screening. No therapeutic intervention
- Keywords
- Deafness, child
- Medical subject headings
- Deafness
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic screening. No therapeutic interventionOther
Genetic screening using NGS technique. No therapeutic intervention
| Study group | Role | What they receive |
|---|---|---|
| Genetic study in retrospective and prospective groups | Genetic screening using NGS technique in a retrospective and prospective groups. No therapeutic intervention Receives: Other: Genetic screening. No therapeutic intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of mutation
It will realized the extraction blood sample in the same day and clinical information will be collected also.
Measured: 1 day
Secondary outcomes (1)
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.
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Apr 2020
- Study start30 Apr 2020 (estimated)
- Primary completion31 Dec 2020 (estimated)
- Study completionApr 2021 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital DeafnessStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 220 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Clinica Universidad de Navarra, Universidad de Navarra
- Sponsor type
- University, hospital or other
- Collaborators
- Instituto de Salud Pública y Laboral de Navarra, Biogipuzkoa Health Research Institute, DREAMgenics S.L., Hospital CUF Porto, S.A., Centro Hospitalar de Lisboa Central, University Hospital, Montpellier, University Hospital, Toulouse
- Responsible party
- Sponsor
- Investigators
- Michael Mondain, ENT, Principal investigator, University Hospital, Montpellier
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04350619
- Sponsor's protocol ID
- GHELP
- Acronym
- GHELP
- Status last verified
- Mar 2020
- First submitted
- 30 Mar 2020
- Last updated
- 17 Apr 2020
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 17 Apr 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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)
- ClinicalTrials.gov ID
- NCT04350619
- Acronym / sponsor ID
- GHELP / GHELP
- Keywords
- Deafness, child
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 220 participants (estimated)
- Lead sponsor
- Clinica Universidad de Navarra, Universidad de NavarraUniversity, hospital or other
- Collaborators
- Instituto de Salud Pública y Laboral de Navarra, Biogipuzkoa Health Research Institute, DREAMgenics S.L., Hospital CUF Porto, S.A., Centro Hospitalar de Lisboa Central, University Hospital, Montpellier, University Hospital, Toulouse
- Study start
- 30 Apr 2020 (estimated)
- Primary completion
- 31 Dec 2020 (estimated)
- Study completion
- Apr 2021 (estimated)
- First posted
- 17 Apr 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Genetic study in retrospective and prospective groups | – | Other: Genetic screening. No therapeutic interventionGenetic screening using NGS technique in a retrospective and prospective groups. No therapeutic intervention |
Who may qualify
- Ages
- Up to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- There are 2 groups: retrospective and prospective which their characteristiques are described in the previous eligibility criteria.
Key inclusion criteria (9 listed)
- 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.
Key exclusion criteria (4 listed)
- Prospective study
- Family not willing to participate in the study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genetic screening. No therapeutic interventionGenetic screening using NGS technique. No therapeutic intervention | Other | Genetic study in retrospective and prospective groups |
Primary outcome
Prevalence of mutation
Time frame: 1 day
It will realized the extraction blood sample in the same day and clinical information will be collected also.
1 secondary outcome
Phenotyping the mutation
Time frame: 1 day
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Apr 2020.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Michael Mondain, ENT principal investigator
University Hospital, Montpellier
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Congenital Deafness and Suspicion of Congenital Deafness, run by Clinica Universidad de Navarra, Universidad de Navarra at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 17 Apr 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Manuel Jesús M Manrique Rodriguez, ENT (948255400 ext. 4651, mmanrique@unav.es), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of mutation (time frame: 1 day). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Apr 2020.