Understanding the genetics of hereditary hearing loss
Official title: Natural History of Autosomal Dominant Hearing Loss
Run by National Institutes of Health Clinical Center (CC) · NCT04501081 · Data updated 2026-11-12
This study is trying to find out more about the genetics of a type of hearing loss that runs in families by looking at people with the condition and their relatives to help guide future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 3 Years to 99 Years |
| Sex | All |
| Enrollment | 1100 (estimated) |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Status | Recruiting |
| Started | February 9, 2021 |
| Main results expected | August 21, 2029 |
| Study ends | August 21, 2029 |
| Registry record updated | November 6, 2026 |
| Trial ID | NCT04501081 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals aged 3 to 99 with confirmed autosomal dominant hereditary sensorineural hearing loss and their family members.
✕Probably not a fit
Patients with non-genetic causes of sensorineural hearing loss or those who have had surgical interventions related to their hearing loss may not benefit from this study.
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 investigate the natural history of non-syndromic autosomal dominant hearing loss (DFNA) by examining affected individuals and their family members. Participants aged 3 to 99 will undergo medical and hearing history screenings, hearing tests, and balance assessments to gather comprehensive data. The study seeks to identify the genetic mutations responsible for DFNA and to establish baseline data that will inform future gene therapy trials. By following participants longitudinally, researchers hope to better characterize the progression of this condition.
Why it matters
Potential benefit: If successful, this study could pave the way for gene therapy approaches that may restore natural hearing in individuals with hereditary hearing loss.
How similar studies have gone: While gene therapy for hearing loss is a novel approach, preliminary studies in animal models have shown promise, indicating potential for success in human applications.
Who can join: the full rules
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: * Affected persons with autosomal dominant hereditary sensorineural hearing loss, preferably confirmed by prior genetic testing * Affected family members of enrolled participants with known autosomal dominant hereditary hearing loss * Unaffected Family Members (Healthy Volunteers) of enrolled participant * Adults must be able to provide informed consent * Minors must have a parent or guardian able to provide informed consent * Subjects must be 3-99 years of age EXCLUSION CRITERIA: * Persons with sensorineural hearing loss (SNHL) and/or peripheral vestibular dysfunction associated with a non-genetic etiology such as infection, metabolic or immunologic disorders, or exposure to ototoxic agents such as cisplatin, or aminoglycoside antibiotics will not be included in this protocol. * Persons with sensorineural hearing loss known to be associated with surgical intervention (e.g. acoustic neuroma removal, failed stapedectomy). Prospective study subjects who are cognitively impaired and lack consent capacity, will not be enrolled. The pre-screening eligibility checklist, which will be used and documented for registration under this protocol, is provided in a separate document.
Where it's running
-
National Institutes of Health Clinical Center
Bethesda, Maryland, United States Recruiting
Study contacts
- Principal investigator: Joshua M Levy, M.D. — National Institute on Deafness and Other Communication Disorders (NIDCD)
- Study coordinator: Maame S Akumatey
- Email: maame.akumatey@nih.gov
- Phone: (227) 233-0452
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
WhatsApp AI support vs paper support for first-time hearing aid users
This study tests whether a WhatsApp-based AI support program helps adults with new hearing aids in LMIC communities use and feel confident about their devices better than a paper pamphlet.
-
Hearing and Brain Development in Children and Teens
This observational study tests how hearing care paths (like hearing aids, cochlear implants, brainstem implants, gene therapy, or no intervention) relate to hearing, speech, language, and brain development in kids and teens, with a normal-hearing group for comparison.
-
Web-based auditory training with easy versus hard task settings to improve speech and listening
This project will test whether easy or hard versions of a web-based auditory training program help adults with hearing loss improve speech understanding and everyday listening.
-
Long-term hearing and speech outcomes after cochlear implants
This project will see if cochlear implants improve hearing, speech understanding, and quality of life in Mandarin-speaking patients of all ages before and after surgery.
-
Clemastine plus engineered sound to improve hearing in noisy environments for age-related central auditory processing disorder
This trial will test whether taking clemastine while listening to engineered sounds helps people aged 45–65 with age-related central auditory processing disorder hear better in noisy places.
-
Add Pedmark to cisplatin chemotherapy to prevent hearing loss in men with stage II–III metastatic testicular germ cell tumors
We will test whether adding Pedmark to cisplatin chemotherapy reduces hearing damage in men with stage II–III metastatic testicular germ cell tumors.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.