Clinical trial NCT06019481: A Natural History Study in Pediatric Participants With Hearing Loss Due to OTOF, GJB2, or GJB2/GJB6 Mutations
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
Study type: OBSERVATIONAL
Overall status: WITHDRAWN
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
Lead sponsor: Regeneron Pharmaceuticals
Sponsor class: INDUSTRY
First posted: 2023-08-31
Enrollment: 0
Sex: ALL
Maximum age (years): 7
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Pediatric participants no older than 7 years, inclusive, who have genetic hearing loss due to OTOF, GJB2, or GJB2/GJB6 mutations.

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.

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

Primary outcomes:
measure: Hearing-related outcomes
timeFrame: 4 years
measure: Hearing-related outcomes
timeFrame: 4 years
measure: Hearing-related outcomes
timeFrame: 4 years
measure: Hearing-related outcomes
timeFrame: 4 years
Secondary outcomes:
measure: Auditory skills and speech perception over time
timeFrame: 4 years
measure: Auditory skills and speech perception over time
timeFrame: 4 years
measure: Auditory skills and speech perception over time
timeFrame: 4 years
measure: Auditory skills and speech perception over time
timeFrame: 4 years
Other outcomes:
measure: Quality of life over time
timeFrame: 4 years
measure: Quality of life over time
timeFrame: 4 years
measure: Quality of life over time
timeFrame: 4 years
Locations:
city: Phoenix
country: United States
facility: Phoenix Childrens Hospital
state: Arizona
city: Columbus
country: United States
facility: Nationwide Children's Hospital
state: Ohio
Study officials:
affiliation: Regeneron Pharmaceuticals
name: Clinical Trial Management
role: STUDY_DIRECTOR
References: