Sensorineural Hearing Loss, BilateralOtoconexNCT05402813
Natural History in Children up to 16 Years With Mild to Profound Hearing Loss Due to Mutations in GJB2 / OTOF Genes
An observational study of Sensorineural Hearing Loss, Bilateral and AUNB1, run by Sensorion at 1 site in France.
Trial summary
The purpose of this study is to follow the natural history of non-syndromic hearing loss caused by mutations in two genes (GJB2 or OTOF) in children up to 16 years of age. Read more about this study
- Who is it for?
- Ages Up to 16 years
- Conditions the study is for
- Sensorineural Hearing Loss, Bilateral, AUNB1, DFNB1A
- What is being tested?
- Pure Tone Audiometry Assessment and Quality of Life Questionnaires
- How many people
- 180 participants
- Where
- 1 siteFrance
- Study dates
- 18 Nov 2022to Jun 2031
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 16 years
- All sexes
- No healthy volunteers
- Child
Study population: Male and female participants aged ≤ 16 years at selection, with a diagnosis of bilateral, moderate to profound, sensorineural, non-syndromic hearing loss, with genotyping results showing mutation(s) in GJB2 or OTOF genes, with and without cochlear implant (CI).
Who may be able to join
None listed.
Who cannot join
- Participants presenting with any of the following main exclusion criteria will not be included in the study
- Other type of deafness, such as unilateral deafness, persistent conductive deafness, malformation syndrome, syndromic deafness, known familial deafness linked to mutations in other genes than OTOF or GJB2;
- Documented genotyping results showing pathogenic mutation(s) in other gene(s) than GJB2 or OTOF genes in the tested panel;
- Unable and/or unwilling to comply with all the protocol requirements and/or study procedures.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
Official title: Longitudinal Study of the Natural History of Two Autosomal Recessive Non Syndromic Deafness (DFNB1A and DFNB9) in Children up to 16 Years of Age
The purpose of this study is to follow the natural history of non-syndromic hearing loss caused by mutations in two genes (GJB2 or OTOF) in children up to 16 years of age.
Read the detailed description
The study aims to:
- better describe the prevalence of cases of DFNB1A and DFNB9, including the type of mutations, and to assess the clinical course of the disease in children up to 16 years of age who have a mild to profound deafness.
- better understand the audiological and genetic characteristics of the participants with congenital versus evolutive DFNB1A and DFNB9 deafness.
- Conditions
- Sensorineural Hearing Loss, Bilateral, AUNB1, DFNB1A, Congenital Deafness, DFNB9, OTOF Gene Mutation
- Being tested
- Pure Tone Audiometry Assessment, Quality of Life Questionnaires
- Medical subject headings
- Hearing Loss, Sensorineural, Deafness, Autosomal Recessive 1A
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Pure Tone Audiometry AssessmentOther
Collection of Pure Tone Audiometry data performed in routine practice during study period
Quality of Life QuestionnairesOther
Collection of Quality of Life questionnaire's answers during study period
| Study group | Role | What they receive |
|---|---|---|
| Cohort 1a | Patients without Cochlear Implant, with or without Hearing Aid(s) at study entry Receives: Other: Pure Tone Audiometry Assessment; Other: Quality of Life Questionnaires | |
| Cohort 1b | Patients receiving unilateral or bilateral Cochlear Implant(s) during the study period, after study entry Receives: Other: Pure Tone Audiometry Assessment; Other: Quality of Life Questionnaires | |
| Cohort 2 | Patients with Cochlear Implant(s) (unilateral or bilateral) at study entry Receives: Other: Pure Tone Audiometry Assessment; Other: Quality of Life Questionnaires |
What is being measured
The primary outcome is the main question the study is designed to answer.
Audiological characteristics
Pure Tone Audiometry, thresholds on 500, 1000, 2000, 4000 Hz Speech audiometry
Measured: Up to 4 years
Electrophysiological characteristics: ABR
Auditory Brainstem Response, thresholds
Measured: Up to 4 years
Electrophysiological characteristics: OAE
Otoacoustic Emissions thresholds
Measured: Up to 4 years
Secondary outcomes (2)
Genotypic and phenotypic characterisation
Genotypic and phenotypic characterisation of the population will be assessed in Cohort 1a.
Frequency of autosomal recessive 1 and 9 deafness (GJB2 and OTOF genes) and type of mutations will be evaluated among the screened population of male and female children aged < 16 years, with a diagnosis of bilateral mild to profound, sensorineural, non-syndromic hearing loss.
Measured: 1 Day
Hearing-related Quality of Life questionnaire
The Hearing Environments And Reflection on Quality of Life (HEAR-QL) measurement questionnaires will be used to assess the quality of life of children.
Depending on child's age, the HEAR-QL questionnaires will be completed either by parents/caregivers (child aged 2 to 6 years) either by the child (child aged 7 to 12 years).
The items of the questionnaires are focused on situations affecting interactions with family and friends, participation in social and school activities, and impact of Hearing Loss on the child's emotional well being.
Children/parents will be asked to rate how frequently each item was a problem for them/child in the past month using the following response choices: "never" (1), "almost never" (2), "sometimes" (3), "often" (4), or "Almost always" (5). Scores are transformed with 1=100, 2=75, 3=50, 4=25, and 5=0 points. Higher scores indicate higher perceived Quality Of Life.
Measured: Up to 4 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Jun 2022
- Study start18 Nov 2022
- Primary completionJun 2031 (estimated)
- Study completionJun 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Sensorineural Hearing Loss, BilateralStudies 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
- Prospective
- Enrolment
- 180 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Sensorion
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Natalie LOUNDON, MD, Principal investigator, Necker Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05402813
- Sponsor's protocol ID
- SENS-NH01
- Acronym
- Otoconex
- Status last verified
- May 2026
- First submitted
- 16 May 2022
- Last updated
- 1 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Longitudinal Study of the Natural History of Two Autosomal Recessive Non Syndromic Deafness (DFNB1A and DFNB9) in Children up to 16 Years of Age
- ClinicalTrials.gov ID
- NCT05402813
- Acronym / sponsor ID
- Otoconex / SENS-NH01
- Conditions
- Sensorineural Hearing Loss, Bilateral, AUNB1, DFNB1A, Congenital Deafness, DFNB9, OTOF Gene Mutation
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 180 participants (estimated)
- Lead sponsor
- SensorionIndustry (pharma, biotech, devices)
- Study start
- 18 Nov 2022 (actual)
- Primary completion
- Jun 2031 (estimated)
- Study completion
- Jun 2031 (estimated)
- First posted
- 2 Jun 2022 (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.
The purpose of this study is to follow the natural history of non-syndromic hearing loss caused by mutations in two genes (GJB2 or OTOF) in children up to 16 years of age.
Detailed description
The study aims to:
- better describe the prevalence of cases of DFNB1A and DFNB9, including the type of mutations, and to assess the clinical course of the disease in children up to 16 years of age who have a mild to profound deafness.
- better understand the audiological and genetic characteristics of the participants with congenital versus evolutive DFNB1A and DFNB9 deafness.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Cohort 1a | – | Other: Pure Tone Audiometry Assessment, Other: Quality of Life QuestionnairesPatients without Cochlear Implant, with or without Hearing Aid(s) at study entry |
| Cohort 1b | – | Other: Pure Tone Audiometry Assessment, Other: Quality of Life QuestionnairesPatients receiving unilateral or bilateral Cochlear Implant(s) during the study period, after study entry |
| Cohort 2 | – | Other: Pure Tone Audiometry Assessment, Other: Quality of Life QuestionnairesPatients with Cochlear Implant(s) (unilateral or bilateral) at study entry |
Who may qualify
- Ages
- Up to 16 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Male and female participants aged ≤ 16 years at selection, with a diagnosis of bilateral, moderate to profound, sensorineural, non-syndromic hearing loss, with genotyping results showing mutation(s) in GJB2 or OTOF genes, with and without cochlear implant (CI).
Key inclusion criteria (0 listed)
Key exclusion criteria (4 listed)
- Participants presenting with any of the following main exclusion criteria will not be included in the study
- Other type of deafness, such as unilateral deafness, persistent conductive deafness, malformation syndrome, syndromic deafness, known familial deafness linked to mutations in other genes than OTOF or GJB2;
- Documented genotyping results showing pathogenic mutation(s) in other gene(s) than GJB2 or OTOF genes in the tested panel;
- Unable and/or unwilling to comply with all the protocol requirements and/or study procedures.
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 |
|---|---|---|
| Pure Tone Audiometry AssessmentCollection of Pure Tone Audiometry data performed in routine practice during study period | Other | Cohort 1a, Cohort 1b, Cohort 2 |
| Quality of Life QuestionnairesCollection of Quality of Life questionnaire's answers during study period | Other | Cohort 1a, Cohort 1b, Cohort 2 |
Primary outcome
Audiological characteristics
Time frame: Up to 4 years
Pure Tone Audiometry, thresholds on 500, 1000, 2000, 4000 Hz Speech audiometry
Electrophysiological characteristics: ABR
Time frame: Up to 4 years
Auditory Brainstem Response, thresholds
Electrophysiological characteristics: OAE
Time frame: Up to 4 years
Otoacoustic Emissions thresholds
2 secondary outcomes
Genotypic and phenotypic characterisation
Time frame: 1 Day
Hearing-related Quality of Life questionnaire
Time frame: Up to 4 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Jun 2026.
- Individual participant dataSharing planned: No
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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.
Natalie LOUNDON, MD principal investigator
Necker Hospital
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 Sensorineural Hearing Loss, Bilateral and AUNB1, run by Sensorion 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 0 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: looking for participants now, as of the sponsor's last update on 1 Jun 2026. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Lionel HOVSEPIAN, MD (+33 (0)7 86 31 13 76, lionel.hovsepian@sensorion-pharma.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Audiological characteristics (time frame: Up to 4 years). The study lists 3 primary outcomes in all. 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 1 Jun 2026.