Auditory Neuropathy Spectrum DisorderNCT07778641
Genetic Study of OTOF- Related Auditory Neuropathy Spectrum Disorder
An observational study of Auditory Neuropathy Spectrum Disorder and Auditory Neuropathy, run by Sohag University at 1 site in Egypt.
Trial summary
The aim of this observational study is to determine the prevalence of OTOF gene variants among patients with auditory neuropathy spectrum disorder (ANSD). The primary research question is whether patients with ANSD carry a pathogenic or likely pathogenic OTOF gene variant. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Auditory Neuropathy Spectrum Disorder, Auditory Neuropathy
- What is being tested?
- Whole exome sequencing.
- How many people
- 30 participants
- Where
- 1 siteEgypt
- Study dates
- Aug 2026to Feb 2027
- How long will I take part?
- 3 Months
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The study population will consist of patients diagnosed with auditory neuropathy spectrum disorder (ANSD) who meet the predefined eligibility criteria and attend the participating audiology/otolaryngology clinic during the study recruitment period. Eligible participants will undergo genetic analysis to assess for pathogenic or potentially pathogenic variants in the OTOF gene. Participants may include children and adults with ANSD, regardless of sex.
Who may be able to join
- The study will be including 30 subjects of 30 patients of both sexes of any age with congenital hearing loss and confirmed diagnosis of non-syndromic ANSD:
- Disproportionate speech discrimination score (SDS) with the hearing threshold level.
- B)The auditory brainstem response (ABR) test with no waveform, disturbed waves, nor detectable wave V at high intense stimulus.
- The otoacoustic emission (OAE) and/or cochlear microphonic (CM) potential may be present.
- Informed consent.
Who cannot join
- 1) Known acquired risk factors of ANSD as preterm, hypoxia, hyperbilirubinemia. 2) Conductive hearing loss. 3) Syndromic ANSD hearing loss. 3) Binaural cochlear implants. 4) Inner ear malformation, cochlear nerve aplasia or hypoplasia.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Mostafa Ahmed Aly Youssif, Professor contact
Egypt1 site
Faculty of medicine, Sohag University
Sohag, Sohag Governorate, 82511
About this study
The aim of this observational study is to determine the prevalence of OTOF gene variants among patients with auditory neuropathy spectrum disorder (ANSD). The primary research question is whether patients with ANSD carry a pathogenic or likely pathogenic OTOF gene variant. Participants will undergo genetic analysis of the OTOF gene.
- Being tested
- Whole exome sequencing.
- Keywords
- Otoferlin, Auditory neuropathy spectrum disorder, ANSD, Auditory synaptopathy, Genetic Testing, Whole Exome Sequencing, OTOF mutation, Hereditary hearing loss, Molecular testing, OTOF, OTOF Variants
- Medical subject headings
- Auditory neuropathy, Deafness, Autosomal Recessive 9, Hearing Loss, Hidden
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Whole exome sequencing.Diagnostic test
Whole exome sequencing (WES) will be performed on a biological sample obtained from each eligible participant to analyze the protein-coding regions of the genome. The analysis will specifically assess the OTOF gene for genetic variants associated with auditory neuropathy spectrum disorder (ANSD), while other clinically relevant variants identified through the sequencing may also be documented according to the study protocol. Identified OTOF variants will be classified according to established variant-interpretation criteria.
| Study group | Role | What they receive |
|---|---|---|
| Patients with auditory neuropathy spectrum disorder | Not described Receives: Diagnostic Test: Whole exome sequencing. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Study OTOF gene variants among patients with non-syndromic auditory neuropathy spectrum disorder
Measured: At baseline, following enrollment and confirmation of eligibility.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Aug 2026
- Study startAug 2026 (estimated)
- Primary completionJan 2027 (estimated)
- Study completionFeb 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (17)Papers the sponsor has linked to this study.
- Other trials for Auditory Neuropathy Spectrum DisorderStudies of the same condition, open and under way.
- More trials run by Sohag UniversityThe 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
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 30 participants (estimated)
- Target duration
- 3 Months
Sponsor and investigators
- Lead sponsor
- Sohag University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Mira Ayman Ramzy, Sohag University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07778641
- Sponsor's protocol ID
- Soh-Med-26-8-18MS
- Status last verified
- Aug 2026
- First submitted
- 18 Aug 2026
- Last updated
- 21 Aug 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Zhang QJ, Han B, Lan L, Zong L, Shi W, Wang HY, Xie LY, Wang H, Zhao C, Zhang C, Yin ZF, Wang DY, Petit C, Guan J, Wang QJ. High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder. Clin Genet. 2016 Sep;90(3):238-46. doi: 10.1111/cge.12744. Epub 2016 Mar 11.
PubMed 26818607Yong N, Cao M, Anderson E, Downie L, Rance G, Bai J, Liddle K, Howard A, Smith L, Sung V, Wang J. The Genetic Causes of Auditory Neuropathy: A Systematic Review. J Clin Med. 2026 May 31;15(11):4260. doi: 10.3390/jcm15114260.
PubMed 42279121Vignesh SS, Jaya V, Muraleedharan A. Prevalence and Audiological Characteristics of Auditory Neuropathy Spectrum Disorder in Pediatric Population: A Retrospective Study. Indian J Otolaryngol Head Neck Surg. 2016 Jun;68(2):196-201. doi: 10.1007/s12070-014-0759-6. Epub 2014 Aug 12.
PubMed 27340636Valayannopoulos V, Bance M, Carvalho DS, Greinwald JH Jr, Harvey SA, Ishiyama A, Landry EC, Lowenheim H, Lustig LR, Manrique M, Nash R, Polo R, Pritchett CV, Rubinstein JT, Shearer AE, Del Castillo I, Anderson JJ, Corrales CE, Quigley TM, Riggs WJ, Weber P, Wilson G, Irvin SC, Hassan HE, Chen Y, Liu R, Drummond MC, Sabin LR, Musser BJ, Yancopoulos GD, Kyratsous CA, Herman GA, Baras A, Whitton JP; CHORD Study Group. DB-OTO Gene Therapy for Inherited Deafness. N Engl J Med. 2026 Mar 12;394(11):1074-1083. doi: 10.1056/NEJMoa2400521. Epub 2025 Oct 12.
PubMed 41085057Thorpe RK, Azaiez H, Wu P, Wang Q, Xu L, Dai P, Yang T, Schaefer GB, Peters BR, Chan KH, Schatz KS, Bodurtha J, Robin NH, Hirsch Y, Rahbeeni ZA, Yuan H, Smith RJH. The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study. Hum Genet. 2022 Apr;141(3-4):853-863. doi: 10.1007/s00439-021-02340-w. Epub 2021 Aug 23.
PubMed 34424407Strenzke N, Chakrabarti R, Al-Moyed H, Muller A, Hoch G, Pangrsic T, Yamanbaeva G, Lenz C, Pan KT, Auge E, Geiss-Friedlander R, Urlaub H, Brose N, Wichmann C, Reisinger E. Hair cell synaptic dysfunction, auditory fatigue and thermal sensitivity in otoferlin Ile515Thr mutants. EMBO J. 2016 Dec 1;35(23):2519-2535. doi: 10.15252/embj.201694564. Epub 2016 Oct 11.
PubMed 27729456Shearer AE, Hansen MR. Auditory synaptopathy, auditory neuropathy, and cochlear implantation. Laryngoscope Investig Otolaryngol. 2019 Jul 1;4(4):429-440. doi: 10.1002/lio2.288. eCollection 2019 Aug.
PubMed 31453354Sanyelbhaa Talaat H, Kabel AH, Samy H, Elbadry M. Prevalence of auditory neuropathy (AN) among infants and young children with severe to profound hearing loss. Int J Pediatr Otorhinolaryngol. 2009 Jul;73(7):937-9. doi: 10.1016/j.ijporl.2009.03.009. Epub 2009 May 5.
PubMed 19409623Santarelli R, Scimemi P, Costantini M, Dominguez-Ruiz M, Rodriguez-Ballesteros M, Del Castillo I. Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception. Ear Hear. 2021 Nov-Dec 01;42(6):1627-1639. doi: 10.1097/AUD.0000000000001052.
PubMed 33908410Saidia AR, Ruel J, Bahloul A, Chaix B, Venail F, Wang J. Current Advances in Gene Therapies of Genetic Auditory Neuropathy Spectrum Disorder. J Clin Med. 2023 Jan 17;12(3):738. doi: 10.3390/jcm12030738.
PubMed 36769387Michalski N, Goutman JD, Auclair SM, Boutet de Monvel J, Tertrais M, Emptoz A, Parrin A, Nouaille S, Guillon M, Sachse M, Ciric D, Bahloul A, Hardelin JP, Sutton RB, Avan P, Krishnakumar SS, Rothman JE, Dulon D, Safieddine S, Petit C. Otoferlin acts as a Ca2+ sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses. Elife. 2017 Nov 7;6:e31013. doi: 10.7554/eLife.31013.
PubMed 29111973Kitao K, Mutai H, Namba K, Morimoto N, Nakano A, Arimoto Y, Sugiuchi T, Masuda S, Okamoto Y, Morita N, Sakamoto H, Shintani T, Fukuda S, Kaga K, Matsunaga T. Deterioration in Distortion Product Otoacoustic Emissions in Auditory Neuropathy Patients With Distinct Clinical and Genetic Backgrounds. Ear Hear. 2019 Jan/Feb;40(1):184-191. doi: 10.1097/AUD.0000000000000586.
PubMed 29688962Kim BJ, Jang JH, Han JH, Park HR, Oh DY, Lee S, Kim MY, Kim AR, Lee C, Kim NKD, Park WY, Choung YH, Choi BY. Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics. J Transl Med. 2018 Nov 27;16(1):330. doi: 10.1186/s12967-018-1708-z.
PubMed 30482216Hams N, Padmanarayana M, Qiu W, Johnson CP. Otoferlin is a multivalent calcium-sensitive scaffold linking SNAREs and calcium channels. Proc Natl Acad Sci U S A. 2017 Jul 25;114(30):8023-8028. doi: 10.1073/pnas.1703240114. Epub 2017 Jul 10.
PubMed 28696301Berlin CI, Morlet T, Hood LJ. Auditory neuropathy/dyssynchrony: its diagnosis and management. Pediatr Clin North Am. 2003 Apr;50(2):331-40, vii-viii. doi: 10.1016/s0031-3955(03)00031-2.
PubMed 12809326
Study at a glance
From the registry record, last updated by the sponsor on 21 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Study of OTOF- Related Auditory Neuropathy Spectrum Disorder
- ClinicalTrials.gov ID
- NCT07778641
- Acronym / sponsor ID
- Soh-Med-26-8-18MS
- Keywords
- Otoferlin, Auditory neuropathy spectrum disorder, ANSD, Auditory synaptopathy, Genetic Testing, Whole Exome Sequencing, OTOF mutation, Hereditary hearing loss
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- Sohag UniversityUniversity, hospital or other
- Study start
- Aug 2026 (estimated)
- Primary completion
- Jan 2027 (estimated)
- Study completion
- Feb 2027 (estimated)
- First posted
- 21 Aug 2026 (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 aim of this observational study is to determine the prevalence of OTOF gene variants among patients with auditory neuropathy spectrum disorder (ANSD). The primary research question is whether patients with ANSD carry a pathogenic or likely pathogenic OTOF gene variant. Participants will undergo genetic analysis of the OTOF gene.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Target follow-up
- 3 Months
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with auditory neuropathy spectrum disorder | – | Diagnostic Test: Whole exome sequencing. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The study population will consist of patients diagnosed with auditory neuropathy spectrum disorder (ANSD) who meet the predefined eligibility criteria and attend the participating audiology/otolaryngology clinic during the study recruitment period. Eligible participants will undergo genetic analysis to assess for pathogenic or potentially pathogenic variants in the OTOF gene. Participants may include children and adults with ANSD, regardless of sex.
Key inclusion criteria (5 listed)
- The study will be including 30 subjects of 30 patients of both sexes of any age with congenital hearing loss and confirmed diagnosis of non-syndromic ANSD:
- B)The auditory brainstem response (ABR) test with no waveform, disturbed waves, nor detectable wave V at high intense stimulus.
- Informed consent.
Key exclusion criteria (1 listed)
- 1) Known acquired risk factors of ANSD as preterm, hypoxia, hyperbilirubinemia. 2) Conductive hearing loss. 3) Syndromic ANSD hearing loss. 3) Binaural cochlear implants. 4) Inner ear malformation, cochlear nerve aplasia or hypoplasia.
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 |
|---|---|---|
| Whole exome sequencing.Whole exome sequencing (WES) will be performed on a biological sample obtained from each eligible participant to analyze the protein-coding regions of the genome. The analysis will specifically assess the OTOF gene for genetic variants associated with auditory neuropathy spectrum disorder (ANSD), while other clinically relevant variants identified through the sequencing may also be documented according to the study protocol. Identified OTOF variants will be classified according to established variant-interpretation criteria. | Diagnostic test | Patients with auditory neuropathy spectrum disorder |
Primary outcome
Study OTOF gene variants among patients with non-syndromic auditory neuropathy spectrum disorder
Time frame: At baseline, following enrollment and confirmation of eligibility.
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 21 Aug 2026.
- Results publication: PubMed 26818607Zhang QJ, Han B, Lan L, Zong L, Shi W, Wang HY, Xie LY, Wang H, Zhao C, Zhang C, Yin ZF, Wang DY, Petit C, Guan J, Wang QJ. High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder. Clin Genet. 2016 Sep;90(3):238-46. doi: 10.1111/cge.12744. Epub 2016 Mar 11.
- Results publication: PubMed 42279121Yong N, Cao M, Anderson E, Downie L, Rance G, Bai J, Liddle K, Howard A, Smith L, Sung V, Wang J. The Genetic Causes of Auditory Neuropathy: A Systematic Review. J Clin Med. 2026 May 31;15(11):4260. doi: 10.3390/jcm15114260.
- Results publication: PubMed 27340636Vignesh SS, Jaya V, Muraleedharan A. Prevalence and Audiological Characteristics of Auditory Neuropathy Spectrum Disorder in Pediatric Population: A Retrospective Study. Indian J Otolaryngol Head Neck Surg. 2016 Jun;68(2):196-201. doi: 10.1007/s12070-014-0759-6. Epub 2014 Aug 12.
- Results publication: PubMed 41085057Valayannopoulos V, Bance M, Carvalho DS, Greinwald JH Jr, Harvey SA, Ishiyama A, Landry EC, Lowenheim H, Lustig LR, Manrique M, Nash R, Polo R, Pritchett CV, Rubinstein JT, Shearer AE, Del Castillo I, Anderson JJ, Corrales CE, Quigley TM, Riggs WJ, Weber P, Wilson G, Irvin SC, Hassan HE, Chen Y, Liu R, Drummond MC, Sabin LR, Musser BJ, Yancopoulos GD, Kyratsous CA, Herman GA, Baras A, Whitton JP; CHORD Study Group. DB-OTO Gene Therapy for Inherited Deafness. N Engl J Med. 2026 Mar 12;394(11):1074-1083. doi: 10.1056/NEJMoa2400521. Epub 2025 Oct 12.
- Results publication: PubMed 34424407Thorpe RK, Azaiez H, Wu P, Wang Q, Xu L, Dai P, Yang T, Schaefer GB, Peters BR, Chan KH, Schatz KS, Bodurtha J, Robin NH, Hirsch Y, Rahbeeni ZA, Yuan H, Smith RJH. The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study. Hum Genet. 2022 Apr;141(3-4):853-863. doi: 10.1007/s00439-021-02340-w. Epub 2021 Aug 23.
- Results publication: PubMed 27729456Strenzke N, Chakrabarti R, Al-Moyed H, Muller A, Hoch G, Pangrsic T, Yamanbaeva G, Lenz C, Pan KT, Auge E, Geiss-Friedlander R, Urlaub H, Brose N, Wichmann C, Reisinger E. Hair cell synaptic dysfunction, auditory fatigue and thermal sensitivity in otoferlin Ile515Thr mutants. EMBO J. 2016 Dec 1;35(23):2519-2535. doi: 10.15252/embj.201694564. Epub 2016 Oct 11.
- Results publication: PubMed 31453354Shearer AE, Hansen MR. Auditory synaptopathy, auditory neuropathy, and cochlear implantation. Laryngoscope Investig Otolaryngol. 2019 Jul 1;4(4):429-440. doi: 10.1002/lio2.288. eCollection 2019 Aug.
- Results publication: PubMed 19409623Sanyelbhaa Talaat H, Kabel AH, Samy H, Elbadry M. Prevalence of auditory neuropathy (AN) among infants and young children with severe to profound hearing loss. Int J Pediatr Otorhinolaryngol. 2009 Jul;73(7):937-9. doi: 10.1016/j.ijporl.2009.03.009. Epub 2009 May 5.
- Results publication: PubMed 33908410Santarelli R, Scimemi P, Costantini M, Dominguez-Ruiz M, Rodriguez-Ballesteros M, Del Castillo I. Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception. Ear Hear. 2021 Nov-Dec 01;42(6):1627-1639. doi: 10.1097/AUD.0000000000001052.
- Results publication: PubMed 36769387Saidia AR, Ruel J, Bahloul A, Chaix B, Venail F, Wang J. Current Advances in Gene Therapies of Genetic Auditory Neuropathy Spectrum Disorder. J Clin Med. 2023 Jan 17;12(3):738. doi: 10.3390/jcm12030738.
- Results publication: PubMed 29111973Michalski N, Goutman JD, Auclair SM, Boutet de Monvel J, Tertrais M, Emptoz A, Parrin A, Nouaille S, Guillon M, Sachse M, Ciric D, Bahloul A, Hardelin JP, Sutton RB, Avan P, Krishnakumar SS, Rothman JE, Dulon D, Safieddine S, Petit C. Otoferlin acts as a Ca2+ sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses. Elife. 2017 Nov 7;6:e31013. doi: 10.7554/eLife.31013.
- Results publication: PubMed 29688962Kitao K, Mutai H, Namba K, Morimoto N, Nakano A, Arimoto Y, Sugiuchi T, Masuda S, Okamoto Y, Morita N, Sakamoto H, Shintani T, Fukuda S, Kaga K, Matsunaga T. Deterioration in Distortion Product Otoacoustic Emissions in Auditory Neuropathy Patients With Distinct Clinical and Genetic Backgrounds. Ear Hear. 2019 Jan/Feb;40(1):184-191. doi: 10.1097/AUD.0000000000000586.
- Individual participant dataSharing planned: Undecided
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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.
Mostafa Ahmed Aly Youssif, Professor contact
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 Auditory Neuropathy Spectrum Disorder and Auditory Neuropathy, run by Sohag University at 1 site in Egypt.
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 5 inclusion and 1 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: opening soon, as of the sponsor's last update on 21 Aug 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 Egypt. 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 Mira Ayman Ramzy (+201273979650, mira_ayman99@yahoo.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Study OTOF gene variants among patients with non-syndromic auditory neuropathy spectrum disorder (time frame: At baseline, following enrollment and confirmation of eligibility.). 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 NCT07778641, which also lists 17 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 21 Aug 2026.