Otoferlin Gene-mediated Hearing Loss Natural History Study

Description

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

Conditions

Sensorineural Hearing Loss, Bilateral

Talk to us

Study Overview

On this page

Study Details

Study overview

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

A Natural History Study in Individuals With Otoferlin Gene-mediated Hearing Loss

Otoferlin Gene-mediated Hearing Loss Natural History Study

Condition
Sensorineural Hearing Loss, Bilateral
Intervention / Treatment

-

Contacts and Locations

Iowa City

University of Iowa, Iowa City, Iowa, United States, 52242

Cincinnati

Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States, 45229

Philadelphia

Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States, 19104

Nashville

Vanderbilt University Medical Center, Nashville, Tennessee, United States, 37232-8605

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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
  • 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
  • 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
  • 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

Ages Eligible for Study

to 44 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Akouos, Inc.,

Kathy Reape, MD, STUDY_DIRECTOR, Akouos, Inc.

Study Record Dates

2029-02