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Natural History of Autosomal Dominant Hearing Loss

National Institute on Deafness and Other Communication Disorders (NIDCD) · NCT04501081

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Ages 3–99 · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
1100
US sites recruiting
1
Study start
February 9, 2021
Record last updated
July 23, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

Background

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.

Conditions: Hearing Loss

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full 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.

Recruiting US locations

  • National Institutes of Health Clinical Center

    Bethesda, MD 20892

    Site contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) · 800-411-1222 · prpl@cc.nih.gov

Study contacts (from the official record)

  • Maame S Akumatey · (227) 233-0452 · maame.akumatey@nih.gov
  • Joshua M Levy, M.D. · (240) 935-8305 · joshua.levy@nih.gov
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Natural History of Autosomal Dominant Hearing Loss (NCT04501081) | Bored Studies