Congenital Profound Hearing LossAUDIOFERLINENCT04202185
Evaluation of a Cohort of Congenital Deep Deafness Patients and/or With Auditory Neuropathy, Looking for DFNB9
An observational study of Congenital Profound Hearing Loss, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
Evaluation of a cohort of deaf children looking for autosomal recessive deafness-9 (DFNB9). Clinical and audiologic evaluation of patients with known auditive neuropathy / auditory dys-synchrony (ANAD) or recently diagnosed congenital severe to profound hearing loss (HL), and assessing genetic analysis looking for… Read more about this study
- Who is it for?
- Ages Up to 25 years
- Conditions the study is for
- Congenital Profound Hearing Loss
- What is being tested?
- Data collection and Genetic analysis
- How many people
- 150 participants
- Where
- 1 siteFrance
- Study dates
- 2 Apr 2020to 6 Dec 2024
- 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 25 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Patient coming to the Necker Hospital for a deafness visit or for a check-up prior to a cochlear implantation
Who may be able to join
None listed.
Who cannot join
- Other type of deafness such as : unilateral deafness, deafness of transmission, malformation syndrome, known genetic familial deafness not DFNB9
- Patient without medical insurance
- Lack of consent to DNA sampling, of one or both biological parents (consent of the care)
Trial locations and contacts
1 site in 1 country.
France1 site
Unité d'Audiophonologie et d'Implantation cochléaire - Necker hospital
Paris, 75015
About this study
Evaluation of a cohort of deaf children looking for autosomal recessive deafness-9 (DFNB9).
Clinical and audiologic evaluation of patients with known auditive neuropathy / auditory dys-synchrony (ANAD) or recently diagnosed congenital severe to profound hearing loss (HL), and assessing genetic analysis looking for DFNB9. The investigators expect to compile genotypic and phenotypic characterization of 25 children with DFNB9 within 4 years.
Read the detailed description
ANAD is not a rare type of hearing loss. Nevertheless, its profile is heterogeneous and the pathology remain underdiagnosed. The investigators will screen all new patients with bilateral severe to profound HL, looking for DFNB9. They will analyse their electrophysiology (auditory potential, and otoacoustic emission), and their audio-vestibular profile, at an early stage and one year after inclusion. All patients will be seen in the genetic clinic. Also, the investigators will analyse all patients with ANAD profile and patients known with ANAD.
All informations will provide precise data base to allow a better understanding of the pathology. It might also lead to select the best candidates for future gene therapy
- Conditions
- Congenital Profound Hearing Loss
- Being tested
- Data collection, Genetic analysis
- Keywords
- Auditory neuropathy, DFNB9, Children, Hearing loss, Deafness
- Medical subject headings
- Auditory neuropathy, Hearing Loss, Deafness
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Data collectionOther
Retrospective collection data from diagnostic Data collected following to medical exam as part of care
Genetic analysisGenetic
Research of mutation and identification of genetic panel as part of care
| Study group | Role | What they receive |
|---|---|---|
| G1a | infants under 3 years deaf severe to deep Receives: Other: Data collection; Genetic: Genetic analysis | |
| G1b | children under 16 years of age with audiologically proven auditory neuropathy Receives: Other: Data collection; Genetic: Genetic analysis | |
| G2 | patients <25 years old with one or two Otoferlin mutations Receives: Other: Data collection |
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of deafness caused by DFNB9
Prevalence and type of bi-allelic pathogenic changes Otoferlin Molecular analysis will be done by Next Generation Sequencing Capture method
Measured: 3 months
Secondary outcomes (18)
Audiological characteristics in free fields at diagnosis
audiometric thresholds on 500, 1000, 2000, 4000 Hz in free fields
Measured: 1 day
Audiological characteristics in separate ears at diagnosis
audiometric thresholds on 500, 1000, 2000, 4000 Hz in separate ears
Measured: 1 day
Audiological characteristics in free fields at 12 months or last record
audiometric thresholds on 500, 1000, 2000, 4000 Hz in free fields
Measured: 12 months
Audiological characteristics in separate ears at 12 months or last record
audiometric thresholds on 500, 1000, 2000, 4000 Hz in separate ears
Measured: 12 months
Electrophysiological characteristics : auditory evoked potentials (PEA) at diagnosis
PEA thresholds per ear
Measured: 1 day
Electrophysiological characteristics : auditory evoked potentials (PEA) at 12 months or last record
PEA thresholds per ear
Measured: 12 months
Electrophysiological characteristics : auditory Steady State Response (ASSR) at diagnosis
ASSR thresholds per ear at 500, 1000, 2000, 4000 Hz
Measured: 1 day
Electrophysiological characteristics : auditory Steady State Response (ASSR) at 12 months or last record
ASSR thresholds per ear at 500, 1000, 2000, 4000 Hz
Measured: 12 months
Electrophysiological characteristics : otoacoustic emissions (OEAs) at diagnosis
OEAs status
Measured: 1 day
Electrophysiological characteristics : otoacoustic emissions (OEAs) at 12 months or last record
OEAs status
Measured: 12 months
Vestibular characteristics : per-oral endoscopic myotomy (PEOM) at diagnosis
PEOM
Measured: 1 day
Vestibular characteristics : per-oral endoscopic myotomy (PEOM) at 12 months or last record
PEOM
Measured: 12 months
Vestibular characteristics : video Head Impulse Test (VHIT) at diagnosis
VHIT
Measured: 1 day
Vestibular characteristics : video Head Impulse Test (VHIT) at 12 months or last record
VHIT
Measured: 12 months
Caloric Tests at diagnosis
Caloric Tests
Measured: 1 day
Caloric Tests at 12 months or last record
Caloric Tests
Measured: 12 months
Clinical development scale at diagnosis
For child under 3 years with : walk age, sitting age and head held age
Measured: 1 day
Clinical development scale at 12 months or last record
For child under 3 years with : walk age, sitting age and head held age
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Dec 2019
- Study start2 Apr 2020
- Primary completion22 Oct 2023
- Study completion6 Dec 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (10)Papers the sponsor has linked to this study.
- Other trials for Congenital Profound Hearing LossStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- 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
- Other
- Enrolment
- 150 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Responsible party
- Sponsor
- Investigators
- Nathalie LOUNDON, MD, Principal investigator, Assistance Publique - Hôpitaux de Paris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04202185
- Sponsor's protocol ID
- APHP190940
- Other IDs
- 2019-A02968-49
- Acronym
- AUDIOFERLINE
- Status last verified
- Feb 2026
- First submitted
- 16 Dec 2019
- Last updated
- 13 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Denoyelle F, Petit C. DFNB9. Adv Otorhinolaryngol. 2002;61:142-4. doi: 10.1159/000066822. No abstract available.
PubMed 12408076Loundon N, Marcolla A, Roux I, Rouillon I, Denoyelle F, Feldmann D, Marlin S, Garabedian EN. Auditory neuropathy or endocochlear hearing loss? Otol Neurotol. 2005 Jul;26(4):748-54. doi: 10.1097/01.mao.0000169044.63970.4a.
PubMed 16015179Marlin S, Feldmann D, Nguyen Y, Rouillon I, Loundon N, Jonard L, Bonnet C, Couderc R, Garabedian EN, Petit C, Denoyelle F. Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever! Biochem Biophys Res Commun. 2010 Apr 9;394(3):737-42. doi: 10.1016/j.bbrc.2010.03.062. Epub 2010 Mar 16.
PubMed 20230791Mehl AL, Thomson V. The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening. Pediatrics. 2002 Jan;109(1):E7. doi: 10.1542/peds.109.1.e7.
PubMed 11773575Migliosi V, Modamio-Hoybjor S, Moreno-Pelayo MA, Rodriguez-Ballesteros M, Villamar M, Telleria D, Menendez I, Moreno F, Del Castillo I. Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss. J Med Genet. 2002 Jul;39(7):502-6. doi: 10.1136/jmg.39.7.502. No abstract available.
PubMed 12114484Rouillon I, Marcolla A, Roux I, Marlin S, Feldmann D, Couderc R, Jonard L, Petit C, Denoyelle F, Garabedian EN, Loundon N. Results of cochlear implantation in two children with mutations in the OTOF gene. Int J Pediatr Otorhinolaryngol. 2006 Apr;70(4):689-96. doi: 10.1016/j.ijporl.2005.09.006. Epub 2005 Oct 13.
PubMed 16226319Roux I, Safieddine S, Nouvian R, Grati M, Simmler MC, Bahloul A, Perfettini I, Le Gall M, Rostaing P, Hamard G, Triller A, Avan P, Moser T, Petit C. Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. Cell. 2006 Oct 20;127(2):277-89. doi: 10.1016/j.cell.2006.08.040.
PubMed 17055430Varga R, Avenarius MR, Kelley PM, Keats BJ, Berlin CI, Hood LJ, Morlet TG, Brashears SM, Starr A, Cohn ES, Smith RJ, Kimberling WJ. OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. J Med Genet. 2006 Jul;43(7):576-81. doi: 10.1136/jmg.2005.038612. Epub 2005 Dec 21.
PubMed 16371502Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet. 1999 Apr;21(4):363-9. doi: 10.1038/7693.
PubMed 10192385Bouazza N, Semeraro M, Lui G, Froelicher-Bournaud L, Choupeaux L, Treluyer JM, Benaboud S, Terzic J, Hachulla E, Remy P, Harambat J, Karras A, Rousset-Rouviere C, Jolivot A, Amoura Z, Daugas E, Hummel A, Salomon R, Lega JC, Decramer S, Belot A, Gobert D, Costedoat-Chalumeau N, Faguer S, Melki I, Jourde-Chiche N, Bader-Meunier B. Population pharmacokinetic modelling of prednisolone in systemic lupus erythematosus patients: Analysis of exposure and disease activity. Br J Clin Pharmacol. 2025 Oct;91(10):2854-2864. doi: 10.1002/bcp.70103. Epub 2025 May 23.
PubMed 40411119
Study at a glance
From the registry record, last updated by the sponsor on 13 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of a Cohort of Congenital Deep Deafness Patients and/or With Auditory Neuropathy, Looking for DFNB9
- ClinicalTrials.gov ID
- NCT04202185
- Acronym / sponsor ID
- AUDIOFERLINE / APHP190940
- Conditions
- Congenital Profound Hearing Loss
- Keywords
- Auditory neuropathy, DFNB9, Children, Hearing loss, Deafness
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 150 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Study start
- 2 Apr 2020 (actual)
- Primary completion
- 22 Oct 2023 (actual)
- Study completion
- 6 Dec 2024 (actual)
- First posted
- 17 Dec 2019 (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.
Evaluation of a cohort of deaf children looking for autosomal recessive deafness-9 (DFNB9).
Clinical and audiologic evaluation of patients with known auditive neuropathy / auditory dys-synchrony (ANAD) or recently diagnosed congenital severe to profound hearing loss (HL), and assessing genetic analysis looking for DFNB9. The investigators expect to compile genotypic and phenotypic characterization of 25 children with DFNB9 within 4 years.
Detailed description
ANAD is not a rare type of hearing loss. Nevertheless, its profile is heterogeneous and the pathology remain underdiagnosed. The investigators will screen all new patients with bilateral severe to profound HL, looking for DFNB9. They will analyse their electrophysiology (auditory potential, and otoacoustic emission), and their audio-vestibular profile, at an early stage and one year after inclusion. All patients will be seen in the genetic clinic. Also, the investigators will analyse all patients with ANAD profile and patients known with ANAD.
All informations will provide precise data base to allow a better understanding of the pathology. It might also lead to select the best candidates for future gene therapy
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| G1a | – | Other: Data collection, Genetic: Genetic analysisinfants under 3 years deaf severe to deep |
| G1b | – | Other: Data collection, Genetic: Genetic analysischildren under 16 years of age with audiologically proven auditory neuropathy |
| G2 | – | Other: Data collectionpatients <25 years old with one or two Otoferlin mutations |
Who may qualify
- Ages
- Up to 25 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Patient coming to the Necker Hospital for a deafness visit or for a check-up prior to a cochlear implantation
Key inclusion criteria (0 listed)
Key exclusion criteria (3 listed)
- Other type of deafness such as : unilateral deafness, deafness of transmission, malformation syndrome, known genetic familial deafness not DFNB9
- Patient without medical insurance
- Lack of consent to DNA sampling, of one or both biological parents (consent of the care)
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 |
|---|---|---|
| Data collectionRetrospective collection data from diagnostic Data collected following to medical exam as part of care | Other | G1a, G1b, G2 |
| Genetic analysisResearch of mutation and identification of genetic panel as part of care | Genetic | G1a, G1b |
Primary outcome
Prevalence of deafness caused by DFNB9
Time frame: 3 months
Prevalence and type of bi-allelic pathogenic changes Otoferlin Molecular analysis will be done by Next Generation Sequencing Capture method
18 secondary outcomes
Audiological characteristics in free fields at diagnosis
Time frame: 1 day
Audiological characteristics in separate ears at diagnosis
Time frame: 1 day
Audiological characteristics in free fields at 12 months or last record
Time frame: 12 months
Audiological characteristics in separate ears at 12 months or last record
Time frame: 12 months
Electrophysiological characteristics : auditory evoked potentials (PEA) at diagnosis
Time frame: 1 day
Electrophysiological characteristics : auditory evoked potentials (PEA) at 12 months or last record
Time frame: 12 months
Electrophysiological characteristics : auditory Steady State Response (ASSR) at diagnosis
Time frame: 1 day
Electrophysiological characteristics : auditory Steady State Response (ASSR) at 12 months or last record
Time frame: 12 months
Electrophysiological characteristics : otoacoustic emissions (OEAs) at diagnosis
Time frame: 1 day
Electrophysiological characteristics : otoacoustic emissions (OEAs) at 12 months or last record
Time frame: 12 months
Vestibular characteristics : per-oral endoscopic myotomy (PEOM) at diagnosis
Time frame: 1 day
Vestibular characteristics : per-oral endoscopic myotomy (PEOM) at 12 months or last record
Time frame: 12 months
Vestibular characteristics : video Head Impulse Test (VHIT) at diagnosis
Time frame: 1 day
Vestibular characteristics : video Head Impulse Test (VHIT) at 12 months or last record
Time frame: 12 months
Caloric Tests at diagnosis
Time frame: 1 day
Caloric Tests at 12 months or last record
Time frame: 12 months
Clinical development scale at diagnosis
Time frame: 1 day
Clinical development scale at 12 months or last record
Time frame: 12 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Feb 2026.
- Background: PubMed 12408076Denoyelle F, Petit C. DFNB9. Adv Otorhinolaryngol. 2002;61:142-4. doi: 10.1159/000066822. No abstract available.
- Background: PubMed 16015179Loundon N, Marcolla A, Roux I, Rouillon I, Denoyelle F, Feldmann D, Marlin S, Garabedian EN. Auditory neuropathy or endocochlear hearing loss? Otol Neurotol. 2005 Jul;26(4):748-54. doi: 10.1097/01.mao.0000169044.63970.4a.
- Background: PubMed 20230791Marlin S, Feldmann D, Nguyen Y, Rouillon I, Loundon N, Jonard L, Bonnet C, Couderc R, Garabedian EN, Petit C, Denoyelle F. Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever! Biochem Biophys Res Commun. 2010 Apr 9;394(3):737-42. doi: 10.1016/j.bbrc.2010.03.062. Epub 2010 Mar 16.
- Background: PubMed 11773575Mehl AL, Thomson V. The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening. Pediatrics. 2002 Jan;109(1):E7. doi: 10.1542/peds.109.1.e7.
- Background: PubMed 12114484Migliosi V, Modamio-Hoybjor S, Moreno-Pelayo MA, Rodriguez-Ballesteros M, Villamar M, Telleria D, Menendez I, Moreno F, Del Castillo I. Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss. J Med Genet. 2002 Jul;39(7):502-6. doi: 10.1136/jmg.39.7.502. No abstract available.
- Background: PubMed 16226319Rouillon I, Marcolla A, Roux I, Marlin S, Feldmann D, Couderc R, Jonard L, Petit C, Denoyelle F, Garabedian EN, Loundon N. Results of cochlear implantation in two children with mutations in the OTOF gene. Int J Pediatr Otorhinolaryngol. 2006 Apr;70(4):689-96. doi: 10.1016/j.ijporl.2005.09.006. Epub 2005 Oct 13.
- Background: PubMed 17055430Roux I, Safieddine S, Nouvian R, Grati M, Simmler MC, Bahloul A, Perfettini I, Le Gall M, Rostaing P, Hamard G, Triller A, Avan P, Moser T, Petit C. Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. Cell. 2006 Oct 20;127(2):277-89. doi: 10.1016/j.cell.2006.08.040.
- Background: PubMed 16371502Varga R, Avenarius MR, Kelley PM, Keats BJ, Berlin CI, Hood LJ, Morlet TG, Brashears SM, Starr A, Cohn ES, Smith RJ, Kimberling WJ. OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. J Med Genet. 2006 Jul;43(7):576-81. doi: 10.1136/jmg.2005.038612. Epub 2005 Dec 21.
- Background: PubMed 10192385Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet. 1999 Apr;21(4):363-9. doi: 10.1038/7693.
- Results publication: PubMed 40411119Bouazza N, Semeraro M, Lui G, Froelicher-Bournaud L, Choupeaux L, Treluyer JM, Benaboud S, Terzic J, Hachulla E, Remy P, Harambat J, Karras A, Rousset-Rouviere C, Jolivot A, Amoura Z, Daugas E, Hummel A, Salomon R, Lega JC, Decramer S, Belot A, Gobert D, Costedoat-Chalumeau N, Faguer S, Melki I, Jourde-Chiche N, Bader-Meunier B. Population pharmacokinetic modelling of prednisolone in systemic lupus erythematosus patients: Analysis of exposure and disease activity. Br J Clin Pharmacol. 2025 Oct;91(10):2854-2864. doi: 10.1002/bcp.70103. Epub 2025 May 23.
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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.
Nathalie LOUNDON, MD principal investigator
Assistance Publique - Hôpitaux de Paris
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 Profound Hearing Loss, run by Assistance Publique - Hôpitaux de Paris 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 3 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: finished, as of the sponsor's last update on 13 Feb 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of deafness caused by DFNB9 (time frame: 3 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04202185, which also lists 10 linked publications.
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 13 Feb 2026.