Clinical trial NCT05572073: Otoferlin Gene-mediated Hearing Loss Natural History Study
Official title: A Natural History Study in Individuals With Otoferlin Gene-mediated Hearing Loss
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Sensorineural Hearing Loss, Bilateral
Keywords: Otoferlin Gene, sensorineural hearing loss (SNHL), auditory neuropathy, auditory neuropathy spectrum disorder
Lead sponsor: Akouos, Inc.
Sponsor class: INDUSTRY
Collaborators: name: Eli Lilly and Company
First posted: 2022-10-07
Enrollment: 150
Sex: ALL
Maximum age (years): 44
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Individuals with hearing loss due to confirmed otoferlin gene mutation(s)

Brief summary: This is a retrospective and prospective longitudinal study in participants with Otoferlin Gene-Mediated Hearing Loss.


Eligibility criteria: Inclusion Criteria:

1. Clinical presentation of bilateral sensorineural hearing loss (SNHL), including auditory neuropathy (AN) / auditory neuropathy spectrum disorder (ANSD) phenotype or medical history of AN / ANSD phenotype earlier in life
2. Mutation(s) in the otoferlin gene
3. Able and willing to comply with all study requirements, as evidenced by successful completion of the informed consent (and assent, if applicable) process

   Additional Criteria for Inclusion in the Prospective Phase:
4. Presence of OAE / CM and absent / abnormal ABRs in at least one ear (that does not have a cochlear implant) within 12 months prior to or at the Month 0 visit

Exclusion Criteria:

1. Unwillingness or inability of the potential participant and/or legally authorized representative to comply with all protocol requirements
2. Presence of cochlear nerve deficiency and/or cochlear nerve dysplasia

   Additional Criteria for Exclusion from the Prospective Phase:
3. Presence of bilateral cochlear implants at the time of record review or planned within the next 6 months
4. Presence of middle ear or auditory brainstem implant(s) at the time of record review or planned within the next 6 months
5. Any condition that would not allow the potential participant to complete follow-up assessments during the course of the study and/or, in the opinion of the Investigator, makes the potential participant unsuitable for the study

Note: Potential participants will not be excluded based on their sex, gender, race, or ethnicity

Primary outcomes:
measure: ABR
timeFrame: First audiologic data in participant medical record through five-year prospective follow up
Secondary outcomes:
measure: OAE
timeFrame: First audiologic data in participant medical record through the five-year prospective follow up
Other outcomes:
Locations:
city: Iowa City
country: United States
facility: University of Iowa
state: Iowa
city: Cincinnati
country: United States
facility: Cincinnati Children's Hospital Medical Center
state: Ohio
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
city: Nashville
country: United States
facility: Vanderbilt University Medical Center
state: Tennessee
city: Parkville
country: Australia
facility: Murdoch Children's Research Institute
state: Victoria
city: Tübingen
country: Germany
facility: University Hospital in Tübingen
city: Esplugues de Llobregat
country: Spain
facility: Sant Joan de Déu Barcelona Hospital
state: Barcelona
city: Taipei
country: Taiwan
facility: National Taiwan University Hospital
city: Ankara
country: Turkey
facility: Ankara University
city: London
country: United Kingdom
facility: University College London
Study officials:
affiliation: Akouos, Inc.
name: Kathy Reape, MD
role: STUDY_DIRECTOR
References: