Evaluation of a Cohort of Congenital Deep Deafness Patients and/or With Auditory Neuropathy, Looking for DFNB9
NCT ID: NCT04202185
Last Updated: 2026-02-13
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
150 participants
OBSERVATIONAL
2020-04-02
2024-12-06
Brief Summary
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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.
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Detailed Description
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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
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Study Design
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COHORT
OTHER
Study Groups
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G1a
infants under 3 years deaf severe to deep
Data collection
Retrospective collection data from diagnostic Data collected following to medical exam as part of care
Genetic analysis
Research of mutation and identification of genetic panel as part of care
G1b
children under 16 years of age with audiologically proven auditory neuropathy
Data collection
Retrospective collection data from diagnostic Data collected following to medical exam as part of care
Genetic analysis
Research of mutation and identification of genetic panel as part of care
G2
patients \<25 years old with one or two Otoferlin mutations
Data collection
Retrospective collection data from diagnostic Data collected following to medical exam as part of care
Interventions
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Data collection
Retrospective collection data from diagnostic Data collected following to medical exam as part of care
Genetic analysis
Research of mutation and identification of genetic panel as part of care
Eligibility Criteria
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Inclusion Criteria
* Child with severe to profound bilateral deafness newly diagnosed with:
* Average hearing threshold\> 70 decibel on each ear
* and / or no response to 70 decibel PEA on each ear
* and / or no response to ASSR
* Child under 16
* Child with newly diagnosed hearing neuropathy : tonal/vocal dissociation (when this is possible), and/or modified PEA, and/or discordant ASSR, and/or OEA present.
* Adult patient under 25 or child
* Patient with deafness with auditory neuropathy
* Patient known to have 1 or 2 mutations of the otoferlin protein
Exclusion Criteria
* Patient without medical insurance
* Lack of consent to DNA sampling, of one or both biological parents (consent of the care)
25 Years
ALL
No
Sponsors
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URC-CIC Paris Descartes Necker Cochin
OTHER
Assistance Publique - Hôpitaux de Paris
OTHER
Responsible Party
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Principal Investigators
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Nathalie LOUNDON, MD
Role: PRINCIPAL_INVESTIGATOR
Assistance Publique - Hôpitaux de Paris
Locations
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Unité d'Audiophonologie et d'Implantation cochléaire - Necker hospital
Paris, , France
Countries
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References
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Denoyelle F, Petit C. DFNB9. Adv Otorhinolaryngol. 2002;61:142-4. doi: 10.1159/000066822. No abstract available.
Loundon 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.
Marlin 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.
Mehl 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.
Migliosi 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.
Rouillon 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.
Roux 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.
Varga 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.
Yasunaga 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.
Bouazza 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.
Other Identifiers
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2019-A02968-49
Identifier Type: REGISTRY
Identifier Source: secondary_id
APHP190940
Identifier Type: -
Identifier Source: org_study_id
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