Study of hearing loss related to the Otoferlin gene
A Natural History Study in Individuals With Otoferlin Gene-mediated Hearing Loss
This study looks at how hearing loss caused by changes in the Otoferlin gene affects people over time, focusing on those with specific types of hearing problems.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 150 (estimated) |
| Ages | N/A to 44 Years |
| Sex | All |
| Sponsor | Akouos, Inc. Industry-sponsored |
| Locations | 10 sites (Iowa City, Iowa and 9 other locations) |
| Trial ID | NCT05572073 on ClinicalTrials.gov |
What this trial studies
This observational study aims to understand the natural history of hearing loss associated with mutations in the Otoferlin gene. It includes both retrospective and prospective components, focusing on participants with bilateral sensorineural hearing loss, including those with auditory neuropathy. The study will assess clinical presentations and genetic factors to gather comprehensive data on the condition over time.
Who should consider this trial
Good fit: Ideal candidates are individuals with bilateral sensorineural hearing loss and confirmed mutations in the Otoferlin gene.
Not a fit: Patients with cochlear nerve deficiencies or those who have undergone cochlear implantation may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide valuable insights into the progression and management of Otoferlin gene-mediated hearing loss, potentially leading to improved treatment strategies.
How similar studies have performed: While studies on genetic causes of hearing loss exist, this specific focus on the Otoferlin gene is relatively novel and may provide new insights.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Iowa City, Iowa and 9 other locations
- University of Iowa — Iowa City, Iowa, United States (Recruiting)
- Cincinnati Children's Hospital Medical Center — Cincinnati, Ohio, United States (Recruiting)
- Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States (Recruiting)
- Vanderbilt University Medical Center — Nashville, Tennessee, United States (Recruiting)
- Murdoch Children's Research Institute — Parkville, Victoria, Australia (Withdrawn)
- University Hospital in Tübingen — Tübingen, Germany (Recruiting)
- Sant Joan de Déu Barcelona Hospital — Esplugues de Llobregat, Barcelona, Spain (Recruiting)
- National Taiwan University Hospital — Taipei, Taiwan (Recruiting)
- Ankara University — Ankara, Turkey, Turkey (Türkiye) (Recruiting)
- University College London — London, United Kingdom, United Kingdom (Recruiting)
Study contacts
- Study coordinator: Akouos Clinical Trials
- Email: AkouosClinicalTrials@Lilly.com
- Phone: +1 857 410 1816
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.