Studying genes behind inherited hearing loss that runs in families
Follows people with inherited hearing loss and their relatives to learn which genes cause it.
Key facts
- Who runs it
- National Institute on Deafness and Other Communication Disorders (NIDCD)
- Where
- Bethesda, United StatesSee the site
- Trial code
- Registry title
- Natural History of Autosomal Dominant Hearing Loss
- Status
- Recruiting
- People taking part
- 1,100 people, planned
- Started
- 9 Feb 2021
- Expected to end
- 21 Aug 2029
- Type of study
- Observational, 2 groups
- Record updated
- 6 November 2026
Who can take part
AI summary
From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
The trial is looking for people with hearing loss that runs in families and is passed on in a dominant way (DFNA). Their family members, with or without hearing loss, can also join.
- Age
- 3 to 99 years
- Sex
- All sexes
- Disease stage
- Hereditary sensorineural hearing loss (inner ear or nerve hearing loss) passed on in an autosomal dominant way. Unaffected family members of enrolled participants can also join.
- Biomarker or test result
- Hearing loss preferably confirmed by earlier genetic testing.
Main reasons for not taking part
- Hearing loss or balance problems from a non-genetic cause, such as infection, metabolic or immune disorders
- Hearing loss after drugs that can harm hearing, such as cisplatin or aminoglycoside antibiotics
- Hearing loss linked to surgery, such as acoustic neuroma removal or failed stapedectomy
- Thinking problems that leave a person unable to give consent
The registry criteria, word for word
Show all 9 criteriaShow less
Who cannot take part
- 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
- 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
Other 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
Check if you might fit
Answer for yourself. This is not a decision: only the study team can say whether you can take part.
- Are you between 3 and 99 years old?
Where in United States
- National Institutes of Health Clinical CenterBethesda, United StatesContact: Maame S AkumateyTaking people
About the trial
What the trial wants to find out
Background:
Read full original descriptionShow less
Hereditary hearing loss is one of the most common sensory disabilities affecting newborns. The main options for people with hereditary hearing loss are hearing aids and cochlear implants. Both options have their limitations and do not restore biological hearing. Researchers want to learn if gene editing might be a treatment option.
Objective:
To understand the genes that cause non-syndromic autosomal dominant hearing loss (DFNA) in people with DFNA as well as their family members.
Eligibility:
People age 3 99 who have DFNA, affected family members of enrolled participants with DFNA, and unaffected family members of enrolled participants
Design:
Participants will be screened with a medical and hearing history. Their medical records will be reviewed.
Participants will have hearing tests. They will wear headphones or earplugs. They will listen to tones, sounds, and words and may be asked to describe what they hear.
Participants will have balance tests. For these, they will wear googles as they watch moving lights or as cold or warm air is blown into their ears. They will sit in a spinning chair in a quiet, dark booth. From a reclined position, they will raise their head while listening to clicking sounds.
Participants will have blood drawn through a needle in the arm. Some blood will be used for gene testing.
Some participants will have 2 skin biopsies. The skin will be washed, and a numbing medicine will be injected. Two small pieces of skin will be removed.
Participants may have a physical exam.
Participation will last for up to 20 years. Participants may give medical updates once a year.
The 2 groups in the trial
- 1
DFNA patients and their family members (affected)
- 2
DFNA patients and their family members (unaffected)
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- Natural History of Autosomal Dominant Hearing Loss
- Plain-language title
- Studying genes behind inherited hearing loss that runs in familiesGenerated from the registry record. The registry title is the official one.
- AI summary
- From the trial's eligibility criteria. Read by machine on 14 November 2026.
- Fit questions
- Built from NCT04501081, who can take part
- Record updated
- 6 November 2026