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Protocol Details

Natural History of Autosomal Dominant Hearing Loss

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Institute on Deafness and Other Communication Disorders (NIDCD)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 3 Years
Max Age: 99 Years

Referral Letter Required


Population Exclusion(s)



Genome Editing;
Natural History

Recruitment Keyword(s)



Hearing Loss

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Institute on Deafness and Other Communication Disorders


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.


To understand the genes that cause non-syndromic autosomal dominant hearing loss (DFNA) in people with DFNA as well as their family members.


People age 3 99 who have DFNA, affected family members of enrolled participants with DFNA, and unaffected family members of enrolled participants


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.

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-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


-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. A pre-screening eligibility checklist will be used and documented for registration under this protocol.

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Not Provided

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Principal Investigator

Referral Contact

For more information:

Thomas B. Friedman, Ph.D.
National Institute on Deafness and Other Communication Disorders (NIDCD)
National Institutes of Health
5RC-Room 2A19
5 Research Court
Rockville, MD 20852
(301) 496-7882

Marcia L. Mulquin, R.N.
National Institute on Deafness and Other Communication Disorders (NIDCD)
National Institutes of Health
Building 10
Room 12N226
10 Center Drive
Bethesda, Maryland 20892
(301) 496-1601

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1

Clinical Trials Number:


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