WithdrawnNo phase
A Natural History Study in Pediatric Participants With Hearing Loss Due to OTOF, GJB2, or GJB2/GJB6 Mutations
Key facts
- Who runs it
- Regeneron Pharmaceuticals
- Where
- Columbus and Phoenix, United StatesSee the 2 sites
- Trial code
- Status
- Withdrawn
- Started
- 30 Jun 2025
- Expected to end
- 30 Jun 2030
- Type of study
- Observational
- Record updated
- 15 May 2025
- Why it stopped
- Sponsor Decision
Who can take part
- Age
- Up to 7 years
- Sex
- Women and men
- Healthy volunteers
- Cannot take part
The registry criteria, word for word
Show all 9 criteriaShow less
Who can take part
- 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 take part
- History of treatment with ototoxic drugs
- 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
Where in United States
- Nationwide Children's HospitalColumbus, United StatesNo longer taking part
- Phoenix Childrens HospitalPhoenix, United StatesNo longer taking part
About the trial
What the trial wants to find out
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.
Data and sources
- Registry record
- Listed on ClinicalTrials.gov.
- 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
- Record updated
- 15 May 2025