Actively Recruiting

Age: 3Years - 99Years
All Genders
Healthy Volunteers
NCT04501081

Natural History of Autosomal Dominant Hearing Loss

Led by National Institute on Deafness and Other Communication Disorders (NIDCD) · Updated on 2026-05-07

1100

Participants Needed

1

Research Sites

445 weeks

Total Duration

On this page

AI-Summary

What this Trial 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

Official Title

Natural History of Autosomal Dominant Hearing Loss

Who Can Participate

Age: 3Years - 99Years
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • 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 participants
  • Adults must be able to provide informed consent
  • Minors must have a parent or guardian able to provide informed consent
  • Subjects must be 3 to 99 years of age
Not Eligible

You will not qualify if you...

  • Persons with sensorineural hearing loss or peripheral vestibular dysfunction caused by non-genetic factors such as infection, metabolic or immunologic disorders, or exposure to ototoxic agents like cisplatin or aminoglycoside antibiotics
  • Persons with sensorineural hearing loss associated with surgical interventions such as acoustic neuroma removal or failed stapedectomy
  • Individuals who are cognitively impaired and lack the capacity to consent

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 1 location

1

National Institutes of Health Clinical Center

Bethesda, Maryland, United States, 20892

Actively Recruiting

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Research Team

M

Marcia L Mulquin, R.N.

CONTACT

J

Joshua M Levy, M.D.

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

2

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