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Observational Study of Autosomal Dominant Hearing Loss

This study aims to understand how autosomal dominant hearing loss (a type of inherited hearing loss) develops over time. Researchers want to learn more about the genes that cause this condition. They are also exploring if a technique called genome editing could be used to correct genetic changes in cells from people with this type of hearing loss. This research could help develop new treatments beyond hearing aids and cochlear implants, which don't restore natural hearing. The study is open to people aged 3 to 99 with autosomal dominant hearing loss, as well as their affected and unaffected family members. The goal is to see if genome editing can modify mutations in lab-grown cells from patients.

Study design
This is an observational study planning to enroll 1100 participants. It is not testing a specific treatment, but rather observing the natural course of the condition.
What's involved
Participants will have a medical and hearing history taken, and their medical records will be reviewed. They will also provide cells for laboratory testing.
Compensation
Not stated in the trial record.
Follow-up
Participants and their family members will be followed over time to understand the natural history of the condition. The primary endpoint is measured at an ongoing time frame.

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NCT04501081

Natural History of Autosomal Dominant Hearing Loss

Recruiting
Not specifiedAges 3–99Observational
National Institute on Deafness and Other Communication Disorders (NIDCD)
~1,100 participants
Updated 2026-07-23 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
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.
Measured over Ongoing

Conditions

Hearing Loss

Explore related trials

Autosomal Dominant Hearing LossHearing Loss

Where it's being run

1 sites across 1 states
Maryland1

Study leadership

  • Joshua M Levy, M.D. · PRINCIPAL_INVESTIGATOR · National Institute on Deafness and Other Communication Disorders (NIDCD)

Who to contact

Maame S Akumatey
[email protected]
(227) 233-0452
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Eligibility criteria

Inclusion

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

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).

What this trial measures

  • 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.Ongoing

    After determination of the genetic mutation involved with the hearing loss, gRNAs will be generated which will target the mutation in individual probands. Specific outcome measures that will be collected include, 1) testing the efficiency of individual gRNAs at inducing genome editing in primary or immortalized fibroblast cultures from DFNA patients, and 2) assessing the specificity of individual gRNAs at inducing genome editing in both the mutant10. The efficiency of individual gRNAs at inducing genome editing will be assessed by the presence of indels in the mutant allele using deep sequencing. The specificity of genome editing for each gRNA will be assessed by comparing the genome editing efficiency of each gRNA at targeting the mutant allele vs. the wild type allele.