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| ID | Type | Description | Link |
|---|---|---|---|
| 2019-A02968-49 | Registry Identifier | ID-RCB |
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| Name | Class |
|---|---|
| URC-CIC Paris Descartes Necker Cochin | OTHER |
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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.
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
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| G1a | infants under 3 years deaf severe to deep |
| |
| G1b | children under 16 years of age with audiologically proven auditory neuropathy |
| |
| G2 | patients <25 years old with one or two Otoferlin mutations |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Data collection | Other | Retrospective collection data from diagnostic Data collected following to medical exam as part of care |
|
| Measure | Description | Time Frame |
|---|---|---|
| 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 | 3 months |
| Measure | Description | Time Frame |
|---|---|---|
| Audiological characteristics in free fields at diagnosis | audiometric thresholds on 500, 1000, 2000, 4000 Hz in free fields | 1 day |
| Audiological characteristics in separate ears at diagnosis | audiometric thresholds on 500, 1000, 2000, 4000 Hz in separate ears |
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G1a / Inclusion Criteria:
G1b / Inclusion Criteria:
G2 / Inclusion Criteria:
Exclusion Criteria:
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Patient coming to the Necker Hospital for a deafness visit or for a check-up prior to a cochlear implantation
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| Name | Affiliation | Role |
|---|---|---|
| Nathalie LOUNDON, MD | Assistance Publique - Hôpitaux de Paris | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Unité d'Audiophonologie et d'Implantation cochléaire - Necker hospital | Paris | 75015 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 12408076 | Background | Denoyelle F, Petit C. DFNB9. Adv Otorhinolaryngol. 2002;61:142-4. doi: 10.1159/000066822. No abstract available. | |
| 16015179 | Background | 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. |
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| ID | Term |
|---|---|
| C538268 | Auditory neuropathy |
| D034381 | Hearing Loss |
| D003638 | Deafness |
| ID | Term |
|---|---|
| D006311 | Hearing Disorders |
| D004427 | Ear Diseases |
| D010038 | Otorhinolaryngologic Diseases |
| D012678 | Sensation Disorders |
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| ID | Term |
|---|---|
| D003625 | Data Collection |
| D005820 | Genetic Testing |
| ID | Term |
|---|---|
| D004812 | Epidemiologic Methods |
| D008919 | Investigative Techniques |
| D017531 | Health Care Evaluation Mechanisms |
| D011787 | Quality of Health Care |
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Serum
| Genetic analysis | Genetic | Research of mutation and identification of genetic panel as part of care |
|
| 1 day |
| Audiological characteristics in free fields at 12 months or last record | audiometric thresholds on 500, 1000, 2000, 4000 Hz in free fields | 12 months |
| Audiological characteristics in separate ears at 12 months or last record | audiometric thresholds on 500, 1000, 2000, 4000 Hz in separate ears | 12 months |
| Electrophysiological characteristics : auditory evoked potentials (PEA) at diagnosis | PEA thresholds per ear | 1 day |
| Electrophysiological characteristics : auditory evoked potentials (PEA) at 12 months or last record | PEA thresholds per ear | 12 months |
| Electrophysiological characteristics : auditory Steady State Response (ASSR) at diagnosis | ASSR thresholds per ear at 500, 1000, 2000, 4000 Hz | 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 | 12 months |
| Electrophysiological characteristics : otoacoustic emissions (OEAs) at diagnosis | OEAs status | 1 day |
| Electrophysiological characteristics : otoacoustic emissions (OEAs) at 12 months or last record | OEAs status | 12 months |
| Vestibular characteristics : per-oral endoscopic myotomy (PEOM) at diagnosis | PEOM | 1 day |
| Vestibular characteristics : per-oral endoscopic myotomy (PEOM) at 12 months or last record | PEOM | 12 months |
| Vestibular characteristics : video Head Impulse Test (VHIT) at diagnosis | VHIT | 1 day |
| Vestibular characteristics : video Head Impulse Test (VHIT) at 12 months or last record | VHIT | 12 months |
| Caloric Tests at diagnosis | Caloric Tests | 1 day |
| Caloric Tests at 12 months or last record | Caloric Tests | 12 months |
| Clinical development scale at diagnosis | For child under 3 years with : walk age, sitting age and head held age | 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 | 12 months |
| 20230791 | Background | 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. |
| 11773575 | Background | 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. |
| 12114484 | Background | 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. |
| 16226319 | Background | 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. |
| 17055430 | Background | 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. |
| 16371502 | Background | 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. |
| 10192385 | Background | 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. |
| 40411119 | Result | 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. |
| D009461 |
| Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D017530 | Health Care Quality, Access, and Evaluation |
| D011634 | Public Health |
| D004778 | Environment and Public Health |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D005821 | Genetic Techniques |
| D033142 | Genetic Services |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
| D003954 | Diagnostic Services |
| D011314 | Preventive Health Services |