Study of hearing loss related to the Otoferlin gene

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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
• University Hospital in Tübingen
  Tübingen, Germany Recruiting
• Sant Joan de Déu Barcelona Hospital
  Esplugues de Llobregat, Barcelona, Spain Recruiting

Study contacts

• Study coordinator: Akouos Clinical Trials
• Email: AkouosClinicalTrials@Lilly.com
• Phone: +1 857 410 1816

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Comparing speech understanding methods for cochlear implant users

  This study tests whether a new way of setting up cochlear implants helps adults understand speech better in noisy places compared to the traditional method.

  Recruiting MED-EL Elektromedizinische Geräte GmbH · Dijon · NCT06737185

• Comparing speech perception with different cochlear implant settings

  This study tests whether different settings on cochlear implants can help adults hear and understand speech better in noisy situations.

  Recruiting MED-EL Elektromedizinische Geräte GmbH · Limoges · NCT06723262

• Comparing two fitting strategies for cochlear implants in patients with hearing loss

  This study is testing two different ways to set up cochlear implants for people with hearing loss to see which one helps them understand speech better in noisy places.

  Recruiting MED-EL Elektromedizinische Geräte GmbH · Saint-Etienne · NCT05955469

• Comparing two fitting strategies for cochlear implants in patients with hearing loss

  This study is testing two different ways to set up cochlear implants and hearing aids together to see which helps adults with hearing loss hear better in noisy situations.

  Recruiting MED-EL Elektromedizinische Geräte GmbH · Nice · NCT05898659

• Gene therapy for hearing loss caused by otoferlin gene mutations

  This study is testing a new gene therapy to see if it can help restore hearing in people with severe hearing loss caused by mutations in the otoferlin gene.

  Recruiting at 3 sites Phase 3 Eli Lilly and Company · San Francisco, California and 8 other locations · NCT05821959

• Tracking hearing loss in children with specific genetic mutations

  This study is tracking children with hearing loss caused by specific genetic mutations to see how their condition changes over time and how it affects their quality of life.

  Recruiting Sensorion · Paris · NCT05402813

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.