Recruiting

Observational Study

Sponsor:

National Institute on Deafness and Other Communication Disorders (NIDCD)

Code:

NCT04501081

Conditions

Hearing Loss

Eligibility Criteria

Sex: All

Age: 3 - 70+

Healthy Volunteers: Accepted

Study Details

Brief summary:

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

Study ID

NCT04501081

Start date

Feb 9, 2021

Status verified date

Jul 21, 2026

Completion date

Aug 21, 2029

Anticipated

Primary completion date

Aug 21, 2029

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 3 - 70+

Healthy Volunteers: Accepted

  • 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.

Study Design

Enrollment

1100 participants

Anticipated

Interventions and Outcome Measures

Arms

1

DFNA patients and their family members (affected)

2

DFNA patients and their family members (unaffected)

Primary outcome measure

  • Determine if genome editing could be applied to modify mutations in primary or immortalized cultured fibroblasts from patients with non-syndromic autosomal dominant hearing loss. [ Time Frame: Ongoing ]

Central Contacts and Locations

Central contacts

Maame S Akumatey

(227) 233-0452maame.akumatey@nih.gov

Joshua M Levy, M.D.

(240) 935-8305joshua.levy@nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

800-411-1222prpl@cc.nih.gov

More Information

Sponsor

National Institute on Deafness and Other Communication Disorders (NIDCD)

Last update posted

Jul 23, 2026

Last verified

Jul 21, 2026

Keywords

  • DFNA
  • Genome Editing
  • Natural History

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-29. This information was provided to ClinicalTrials.gov by National Institute on Deafness and Other Communication Disorders (NIDCD) on 2026-07-23. Recruitment status is synced daily from ClinicalTrials.gov and may not reflect the sponsor's current status. Confirm during your call.