Congenital Hearing Loss Secondary to Biallelic Mutations in the Otoferlin Gene (OTOF)ENSEMBLENCT06019481
A Natural History Study in Pediatric Participants With Hearing Loss Due to OTOF, GJB2, or GJB2/GJB6 Mutations
An observational study of Congenital Hearing Loss Secondary to Biallelic Mutations in the Otoferlin Gene (OTOF) and Biallelic Mutations in the Gap Junction Beta 2 (GJB2) Gene, run by Regeneron Pharmaceuticals at 2 sites in United States.
Trial summary
This is an observational study to examine the characteristics of gene-related hearing loss in pediatric participants with biallelic otoferlin (OTOF) Mutations, Gap Junction Beta 2 (GJB2) Mutations, or Digenic GJB2/Gap Junction Beta 6 (GJB6) Mutations. Read more about this study
- Who is it for?
- Ages Up to 7 years
- Conditions the study is for
- Congenital Hearing Loss Secondary to Biallelic Mutations in the Otoferlin Gene (OTOF), Biallelic Mutations in the Gap Junction Beta 2 (GJB2) Gene, Digenic Mutations in GJB2/Gap Junction Beta 6 (GJB6) Genes
- How many people
- 0 participants
- Where
- 2 sitesUnited States
- Study dates
- 30 Jun 2025to 30 Jun 2030
- 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 7 years
- All sexes
- No healthy volunteers
- Child
Study population: Pediatric participants no older than 7 years, inclusive, who have genetic hearing loss due to OTOF, GJB2, or GJB2/GJB6 mutations.
Who may be able to join
- Participant is no older than 7 years (inclusive) at the time of the parent/legal guardian signing the informed consent form (ICF)
- Participant has 1 of the following genotypes and meets the associated audiologic criteria based on physiologic and/or behavioral measures of inner ear function:
- Biallelic pathogenic or likely pathogenic OTOF mutations with severe to profound sensorineural hearing loss (SNHL; ≥ 85 dB HL) and confirmed presence of OAEs
- Biallelic pathogenic and truncating GJB2 mutation(s) with moderate or moderately-severe SNHL (≤41 to <71 dB HL)
- Digenic pathogenic or likely pathogenic mutations in GJB2 and GJB6 genes with mild or worse SNHL (>26 dB HL)
- Participant has at least 1 ear that has not received a cochlear implant (CI)
Who cannot join
- History of or active participation in an interventional trial related to hearing loss
- History or presence of any other permanent/untreatable hearing loss conditions, including genetic conditions other than those involving biallelic OTOF or GJB2 mutations, or digenic GJB2/GJB6 mutations
- History of treatment with ototoxic drugs
Trial locations and contacts
2 sites in 1 country.
United States2 sites
Nationwide Children's Hospital
Columbus, Ohio, 43205
Phoenix Childrens Hospital
Phoenix, Arizona, 85016
About this study
Official title: A Retrospective and Prospective Natural History Study to Examine the Characteristics of Gene-Related Hearing Loss in Pediatric Participants With Biallelic Otoferlin (OTOF) Mutations, Gap Junction Beta 2 (GJB2) Mutations, Or Digenic GJB2/Gap Junction Beta 6 (GJB6) Mutations
This is an observational study to examine the characteristics of gene-related hearing loss in pediatric participants with biallelic otoferlin (OTOF) Mutations, Gap Junction Beta 2 (GJB2) Mutations, or Digenic GJB2/Gap Junction Beta 6 (GJB6) Mutations. This study will follow the participant for 4 years with annual visits each year.
Read the detailed description
Former Sponsor Decibel Therapeutics
This is a longitudinal, retrospective and prospective, low interventional study designed to collect data on the natural history of pediatric participants with OTOF, GJB2, or GJB2/GJB6 gene mutations to assess hearing-related outcomes, auditory skills, and speech perception. No investigational product will be administered. At study visits, participants will undergo physiological and behavioral assessments of hearing and vestibular function. Additionally, parents/legal guardians or participants will complete questionnaires that will include the capture of epidemiologic, quality-of-life, auditory and language development, and health resource utilization information.
- Conditions
- Congenital Hearing Loss Secondary to Biallelic Mutations in the Otoferlin Gene (OTOF), Biallelic Mutations in the Gap Junction Beta 2 (GJB2) Gene, Digenic Mutations in GJB2/Gap Junction Beta 6 (GJB6) Genes
- Keywords
- Congenital Hearing Loss, Sensorineural Hearing Loss, Auditory Neuropathy, Pediatric, Cochlear Implant, Otoferlin, GJB2, GJB6, OTOF, Deaf, Hard of hearing, Hearing impaired, Hearing disorder, Fully implantable hearing aid, Child, Infant, ENSEMBLE, Gap Junction Beta 6 Genes, Gap Junction Beta 2 Genes
- Medical subject headings
- Hearing Loss, Sensorineural, Auditory neuropathy, Deafness, Autosomal Recessive 9, Hearing Loss, Hearing Disorders
What is being measured
The primary outcome is the main question the study is designed to answer.
Hearing-related outcomes
Auditory brainstem response (ABR) intensity
Measured: 4 years
Hearing-related outcomes
Otoacoustic emission (OAEs) amplitudes
Measured: 4 years
Hearing-related outcomes
Pure tone intensity thresholds
Measured: 4 years
Hearing-related outcomes
Speech detection and perception thresholds.
Measured: 4 years
Secondary outcomes (4)
Auditory skills and speech perception over time
Open- and Closed- set Task phoneme accuracy and word comprehension
Measured: 4 years
Auditory skills and speech perception over time
Early Speech Perception (ESP)
Measured: 4 years
Auditory skills and speech perception over time
Pediatric Speech Intelligibility (PSI) test
Measured: 4 years
Auditory skills and speech perception over time
Auditory Skills Checklist (ASC)
Measured: 4 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Aug 2023
- Study start30 Jun 2025 (estimated)
- Primary completion30 Jun 2030 (estimated)
- Study completion30 Jun 2030 (estimated)
Why it stopped: Sponsor Decision
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital Hearing Loss Secondary to Biallelic Mutations in the Otoferlin Gene (OTOF)Studies of the same condition, open and under way.
- More trials run by Regeneron PharmaceuticalsThe 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
- Prospective
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- Regeneron Pharmaceuticals
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Clinical Trial Management, Study director, Regeneron Pharmaceuticals
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06019481
- Sponsor's protocol ID
- DB-100-001
- Acronym
- ENSEMBLE
- Status last verified
- May 2025
- First submitted
- 21 Aug 2023
- Last updated
- 15 May 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 15 May 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Retrospective and Prospective Natural History Study to Examine the Characteristics of Gene-Related Hearing Loss in Pediatric Participants With Biallelic Otoferlin (OTOF) Mutations, Gap Junction Beta 2 (GJB2) Mutations, Or Digenic GJB2/Gap Junction Beta 6 (GJB6) Mutations
- ClinicalTrials.gov ID
- NCT06019481
- Acronym / sponsor ID
- ENSEMBLE / DB-100-001
- Conditions
- Congenital Hearing Loss Secondary to Biallelic Mutations in the Otoferlin Gene (OTOF), Biallelic Mutations in the Gap Junction Beta 2 (GJB2) Gene, Digenic Mutations in GJB2/Gap Junction Beta 6 (GJB6) Genes
- Keywords
- Congenital Hearing Loss, Sensorineural Hearing Loss, Auditory Neuropathy, Pediatric, Cochlear Implant, Otoferlin, GJB2, GJB6
- Study type
- Observational
- Recruitment status
- WithdrawnReason stopped: Sponsor Decision
- Enrolment
- 0 participants (actual)
- Lead sponsor
- Regeneron PharmaceuticalsIndustry (pharma, biotech, devices)
- Study start
- 30 Jun 2025 (estimated)
- Primary completion
- 30 Jun 2030 (estimated)
- Study completion
- 30 Jun 2030 (estimated)
- First posted
- 31 Aug 2023 (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.
This is an observational study to examine the characteristics of gene-related hearing loss in pediatric participants with biallelic otoferlin (OTOF) Mutations, Gap Junction Beta 2 (GJB2) Mutations, or Digenic GJB2/Gap Junction Beta 6 (GJB6) Mutations. This study will follow the participant for 4 years with annual visits each year.
Detailed description
Former Sponsor Decibel Therapeutics
This is a longitudinal, retrospective and prospective, low interventional study designed to collect data on the natural history of pediatric participants with OTOF, GJB2, or GJB2/GJB6 gene mutations to assess hearing-related outcomes, auditory skills, and speech perception. No investigational product will be administered. At study visits, participants will undergo physiological and behavioral assessments of hearing and vestibular function. Additionally, parents/legal guardians or participants will complete questionnaires that will include the capture of epidemiologic, quality-of-life, auditory and language development, and health resource utilization information.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- Up to 7 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Pediatric participants no older than 7 years, inclusive, who have genetic hearing loss due to OTOF, GJB2, or GJB2/GJB6 mutations.
Key inclusion criteria (6 listed)
- Participant is no older than 7 years (inclusive) at the time of the parent/legal guardian signing the informed consent form (ICF)
- Participant has 1 of the following genotypes and meets the associated audiologic criteria based on physiologic and/or behavioral measures of inner ear function:
- Biallelic pathogenic or likely pathogenic OTOF mutations with severe to profound sensorineural hearing loss (SNHL; ≥ 85 dB HL) and confirmed presence of OAEs
- Biallelic pathogenic and truncating GJB2 mutation(s) with moderate or moderately-severe SNHL (≤41 to <71 dB HL)
- Digenic pathogenic or likely pathogenic mutations in GJB2 and GJB6 genes with mild or worse SNHL (>26 dB HL)
Key exclusion criteria (3 listed)
- History of or active participation in an interventional trial related to hearing loss
- History or presence of any other permanent/untreatable hearing loss conditions, including genetic conditions other than those involving biallelic OTOF or GJB2 mutations, or digenic GJB2/GJB6 mutations
- History of treatment with ototoxic drugs
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Hearing-related outcomes
Time frame: 4 years
Auditory brainstem response (ABR) intensity
Hearing-related outcomes
Time frame: 4 years
Otoacoustic emission (OAEs) amplitudes
Hearing-related outcomes
Time frame: 4 years
Pure tone intensity thresholds
Hearing-related outcomes
Time frame: 4 years
Speech detection and perception thresholds.
4 secondary outcomes
Auditory skills and speech perception over time
Time frame: 4 years
Auditory skills and speech perception over time
Time frame: 4 years
Auditory skills and speech perception over time
Time frame: 4 years
Auditory skills and speech perception over time
Time frame: 4 years
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 May 2025.
- Patients, Caregivers \& Healthcare Providers: Contribute to Genetic Hearing Loss ResearchLink provided by the sponsor.
- 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. This study is not recruiting at the moment.
Clinical Trial Management study director
Regeneron Pharmaceuticals
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Congenital Hearing Loss Secondary to Biallelic Mutations in the Otoferlin Gene (OTOF) and Biallelic Mutations in the Gap Junction Beta 2 (GJB2) Gene, run by Regeneron Pharmaceuticals at 2 sites in United States.
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 6 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: withdrawn, as of the sponsor's last update on 15 May 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. 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 was withdrawn before enrolling participants, so there are no results.
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?
Hearing-related outcomes (time frame: 4 years). The study lists 4 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 15 May 2025.