A Natural History Study in Pediatric Participants With He... | NCT06019481

Studies
A Natural History Study in Pediatric Participants With Hearing Loss Due to OTOF, GJB2, or GJB2/GJB6 Mutations

NCT06019481

Sponsor

Regeneron Pharmaceuticals

Status

Withdrawn

Last Update Posted

May 15, 2025Actual

Enrollment

0Actual

Phase

Not provided

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

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Status Module

Record Verification Date

May 2025

Overall Recruitment Status or Expanded Access Status

Withdrawn

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Sponsor Decision

Expanded Access Info

Start Date

Jun 30, 2025Estimated

Primary Completion Date

Jun 30, 2030Estimated

Completion Date

Jun 30, 2030Estimated

First Submitted Date

Aug 21, 2023

First Submission Date that Met QC Criteria

Aug 25, 2023

First Posted Date

Aug 31, 2023Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

May 12, 2025

Last Update Posted Date

May 15, 2025Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief 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. 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.

Conditions Module

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

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

0Actual

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Hearing-related outcomes	Auditory brainstem response (ABR) intensity	4 years
Hearing-related outcomes	Otoacoustic emission (OAEs) amplitudes	4 years
Hearing-related outcomes	Pure tone intensity thresholds	4 years
Hearing-related outcomes	Speech detection and perception thresholds.	4 years

Secondary Outcomes

Measure	Description	Time Frame
Auditory skills and speech perception over time	Open- and Closed- set Task phoneme accuracy and word comprehension	4 years
Auditory skills and speech perception over time	Early Speech Perception (ESP)

Other Outcomes

Measure	Description	Time Frame
Quality of life over time	Quality of Life-Cochlear Implant (QoL-CI) score	4 years
Quality of life over time	Pediatric Quality of Life (PedsQL) Generic Core Scales dimension and total score

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

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)

Exclusion Criteria:

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

7 Years

Standard Ages

Child

Study Population

Pediatric participants no older than 7 years, inclusive, who have genetic hearing loss due to OTOF, GJB2, or GJB2/GJB6 mutations.

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Clinical Trial Management	Regeneron Pharmaceuticals	Study Director

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Phoenix Childrens Hospital		Phoenix	Arizona	85016	United States
Nationwide Children's Hospital

Label	URL
Patients, Caregivers \& Healthcare Providers: Contribute to Genetic Hearing Loss Research	View source

IPD Sharing Statement Module

Plan to Share IPD

Undecided

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

ID	Term
D006319	Hearing Loss, Sensorineural
C538268	Auditory neuropathy
C563396	Deafness, Autosomal Recessive 9
D034381	Hearing Loss
D006311	Hearing Disorders

ID	Term
D004427	Ear Diseases
D010038	Otorhinolaryngologic Diseases
D012678	Sensation Disorders
D009461	Neurologic Manifestations
D009422	Nervous System Diseases
D012816	Signs and Symptoms
D013568	Pathological Conditions, Signs and Symptoms