Sensorineural Hearing LossNCT00023049
Genetic Analysis of Hereditary Disorders of Hearing and Balance
An observational study of Sensorineural Hearing Loss and Hearing Disorder, run by National Institute on Deafness and Other Communication Disorders (NIDCD) at 2 sites in 2 countries.
Trial summary
This study will try to identify the genetic causes of hereditary hearing loss or balance disorders. People with a hearing or balance disorder that affects more than one family member may be eligible for this study. Read more about this study
- Who is it for?
- Ages Up to 99 years
- Conditions the study is for
- Sensorineural Hearing Loss, Hearing Disorder, Vestibular Disease
- How many people
- 335 participants
- Where
- 2 sitesin 2 countries
- Study dates
- 23 Dec 2002to not given
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 99 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: We will be studying up to 750 people with hearing losses or balance problems that are thought to be hereditary and, if possible, their family members, either with or without hearing or balance problems to participate in our study. A total of up to 400 affected and unaffected individuals, including family members and control subjects will be enrolled from the Nigerian population.
Who may be able to join
- Persons with known SNHL and/or peripheral vestibular dysfunctions caused by genetic etiology
- Family members of persons with known SNHL and/or peripheral vestibular dysfunction caused by genetic etiology
- Adults must be able to provide informed consent
- Minors must have a parent or guardian able to provide informed consent
- Subjects must be 0-99 years of age
- For Nigeria subjects with non-syndromic hearing loss, their hearing loss must be early-onset, before 10 years of age, to be eligible.
Who cannot join
- Persons with SNHL and/or peripheral vestibular dysfunction caused by a nongenetic etiology such as trauma, infection, metabolic or immunologic disorders, or exposure to ototoxic agents such as noise or aminoglycoside antibiotics will not be included in this protocol.
Trial locations and contacts
2 sites in 2 countries.
2 sites in 2 countries
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
Nigeria1 site
Institute of Child Health, College of Medicine, University of Ibadan
Ibadan
About this study
This study will try to identify the genetic causes of hereditary hearing loss or balance disorders.
People with a hearing or balance disorder that affects more than one family member may be eligible for this study. They and their immediate family members may undergo some or all of the following procedures:
- Medical and family history, including questions about hearing, balance and other ear-related issues, and review of medical records.
- Routine physical examination.
- Blood draw or buccal swab (brushing inside the cheek to collect cells) - Tissue is collected for DNA analysis to look for changes in genes that may be related to hearing loss.
- Hearing tests - The subject listens for tones emitted through a small earphone.
- Balance tests to see if balance functions of the inner ear are associated with the hearing loss In one test the subject wears goggles and watches moving lights while cold or warm air is blown into the ears. A second test involves sitting in a spinning chair in a quiet, dark room.
- Photograph - A photograph may be taken as a record of eye shape and color, distance between the eyes, and hair color.
- Computed tomography (CT) and magnetic resonance imaging (MRI) scans - These tests show the structure of the inner ear. For CT, the subject lies still for a short time while X-ray images are obtained. For MRI, the patient lies on a stretcher that is moved into a cylindrical machine with a strong magnetic field. The magnetic field and radio waves produce images of the inner ear. The radio waves cause loud thumping noises that can be muffled by the use of earplugs.
Read the detailed description
Hereditary hearing impairment is a genetically heterogeneous disorder that can be caused by mutations in any one of hundreds of different genes. Approximately 120 genes have now been identified in which mutations can cause nonsyndromic sensorineural hearing loss. The identification and analysis of these genes and their mutations are providing critical insights into the development, structure, and function of the auditory system, as well as the molecular mechanisms associated with disruption of these processes. In contrast, the molecular mechanisms underlying familial disorders affecting peripheral vestibular function appear to be more rare, have not been well described, and are less well understood. The peripheral auditory and vestibular systems share many common features in both health and disease, and many hereditary hearing loss disorders also affect vestibular function. The purpose of this study is to identify genes and mutations causing hereditary disorders of hearing, balance, or both. Members of families segregating hereditary disorders of hearing or balance will be enrolled in the proposed study in order to: (1) define and characterize the phenotypes and natural histories; (2) identify the underlying causative mutations and genes by linkage, positional cloning, and/or candidate gene mutation analyses; (3) and correlate observed phenotypes with the corresponding mutations and functions of the underlying genes.
- Keywords
- Deafness, Phenotypes, Natural History Study, Auditory, DNA Mutations, Natural History, Hereditary Hearing Disorder, Hearing Impairment, Sensorineural Hearing Loss, Vestibular Dysfunction, SNHL
- Medical subject headings
- Hearing Loss, Sensorineural, Hearing Disorders, Vestibular Diseases, Deafness, Hearing Loss
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 1 | patients with known SNHL and/or peripheral vestibular dysfunction |
What is being measured
The primary outcome is the main question the study is designed to answer.
To define and characterize the phenotypes and natural histories of families with segregating hereditary disorders of balance or hearing and to identify the possible mutations and genes by genetic analysis
Characterize the natural history of hereditary disorders affecting hearing and/or balance Identify the genes, including both known and as yet undiscovered genes, that can cause hereditary disorders of hearing or balance Identify and characterize the structure and functions of these genes in the development and function of the peripheral auditory and vestibular systems Determine how mutations in these genes cause hearing loss and vestibular dysfunction Correlate genotypes and phenotypes to identify clinical features that may be used to facilitate the genetic diagnosis of hereditary disorders affecting hearing or balance
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Aug 2001 (estimated)
- Study start23 Dec 2002
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Sensorineural Hearing LossStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 335 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Institute on Deafness and Other Communication Disorders (NIDCD)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Thomas B Friedman, Ph.D., Principal investigator, National Institute on Deafness and Other Communication Disorders (NIDCD)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00023049
- Sponsor's protocol ID
- 010229
- Other IDs
- 01-DC-0229
- Status last verified
- 9 Oct 2026
- First submitted
- 21 Aug 2001
- Last updated
- 5 Nov 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, Kuehn HJ, Schaefer GB, Gobar LS, Hahn FJ, Harris DJ, Kimberling WJ. Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1). Pediatrics. 1999 Mar;103(3):546-50. doi: 10.1542/peds.103.3.546.
PubMed 10049954Griffith AJ, Friedman TB. Making sense out of sound. Nat Genet. 1999 Apr;21(4):347-9. doi: 10.1038/7668. No abstract available.
PubMed 10192378Morton NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci. 1991;630:16-31. doi: 10.1111/j.1749-6632.1991.tb19572.x. No abstract available.
PubMed 1952587
Study at a glance
From the registry record, last updated by the sponsor on 5 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Analysis of Hereditary Disorders of Hearing and Balance
- ClinicalTrials.gov ID
- NCT00023049
- Acronym / sponsor ID
- 010229
- Keywords
- Deafness, Phenotypes, Natural History Study, Auditory, DNA Mutations, Natural History, Hereditary Hearing Disorder, Hearing Impairment
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 335 participants (actual)
- Lead sponsor
- National Institute on Deafness and Other Communication Disorders (NIDCD)US National Institutes of Health
- Study start
- 23 Dec 2002 (actual)
- First posted
- 22 Aug 2001 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study will try to identify the genetic causes of hereditary hearing loss or balance disorders.
People with a hearing or balance disorder that affects more than one family member may be eligible for this study. They and their immediate family members may undergo some or all of the following procedures:
- Medical and family history, including questions about hearing, balance and other ear-related issues, and review of medical records.
- Routine physical examination.
- Blood draw or buccal swab (brushing inside the cheek to collect cells) - Tissue is collected for DNA analysis to look for changes in genes that may be related to hearing loss.
- Hearing tests - The subject listens for tones emitted through a small earphone.
- Balance tests to see if balance functions of the inner ear are associated with the hearing loss In one test the subject wears goggles and watches moving lights while cold or warm air is blown into the ears. A second test involves sitting in a spinning chair in a quiet, dark room.
- Photograph - A photograph may be taken as a record of eye shape and color, distance between the eyes, and hair color.
- Computed tomography (CT) and magnetic resonance imaging (MRI) scans - These tests show the structure of the inner ear. For CT, the subject lies still for a short time while X-ray images are obtained. For MRI, the patient lies on a stretcher that is moved into a cylindrical machine with a strong magnetic field. The magnetic field and radio waves produce images of the inner ear. The radio waves cause loud thumping noises that can be muffled by the use of earplugs.
Detailed description
Hereditary hearing impairment is a genetically heterogeneous disorder that can be caused by mutations in any one of hundreds of different genes. Approximately 120 genes have now been identified in which mutations can cause nonsyndromic sensorineural hearing loss. The identification and analysis of these genes and their mutations are providing critical insights into the development, structure, and function of the auditory system, as well as the molecular mechanisms associated with disruption of these processes. In contrast, the molecular mechanisms underlying familial disorders affecting peripheral vestibular function appear to be more rare, have not been well described, and are less well understood. The peripheral auditory and vestibular systems share many common features in both health and disease, and many hereditary hearing loss disorders also affect vestibular function. The purpose of this study is to identify genes and mutations causing hereditary disorders of hearing, balance, or both. Members of families segregating hereditary disorders of hearing or balance will be enrolled in the proposed study in order to: (1) define and characterize the phenotypes and natural histories; (2) identify the underlying causative mutations and genes by linkage, positional cloning, and/or candidate gene mutation analyses; (3) and correlate observed phenotypes with the corresponding mutations and functions of the underlying genes.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 1 | – | –patients with known SNHL and/or peripheral vestibular dysfunction |
Who may qualify
- Ages
- Up to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- We will be studying up to 750 people with hearing losses or balance problems that are thought to be hereditary and, if possible, their family members, either with or without hearing or balance problems to participate in our study. A total of up to 400 affected and unaffected individuals, including family members and control subjects will be enrolled from the Nigerian population.
Key inclusion criteria (6 listed)
- Persons with known SNHL and/or peripheral vestibular dysfunctions caused by genetic etiology
- Family members of persons with known SNHL and/or peripheral vestibular dysfunction caused by genetic etiology
- Adults must be able to provide informed consent
- Minors must have a parent or guardian able to provide informed consent
- Subjects must be 0-99 years of age
Key exclusion criteria (1 listed)
- Persons with SNHL and/or peripheral vestibular dysfunction caused by a nongenetic etiology such as trauma, infection, metabolic or immunologic disorders, or exposure to ototoxic agents such as noise or aminoglycoside antibiotics will not be included in this protocol.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To define and characterize the phenotypes and natural histories of families with segregating hereditary disorders of balance or hearing and to identify the possible mutations and genes by genetic analysis
Time frame: Ongoing
Characterize the natural history of hereditary disorders affecting hearing and/or balance Identify the genes, including both known and as yet undiscovered genes, that can cause hereditary disorders of hearing or balance Identify and characterize the structure and functions of these genes in the development and function of the peripheral auditory and vestibular systems Determine how mutations in these genes cause hearing loss and vestibular dysfunction Correlate genotypes and phenotypes to identify clinical features that may be used to facilitate the genetic diagnosis of hereditary disorders affecting hearing or balance
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Nov 2026.
- Background: PubMed 10049954Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, Kuehn HJ, Schaefer GB, Gobar LS, Hahn FJ, Harris DJ, Kimberling WJ. Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1). Pediatrics. 1999 Mar;103(3):546-50. doi: 10.1542/peds.103.3.546.
- Background: PubMed 10192378Griffith AJ, Friedman TB. Making sense out of sound. Nat Genet. 1999 Apr;21(4):347-9. doi: 10.1038/7668. No abstract available.
- Background: PubMed 1952587Morton NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci. 1991;630:16-31. doi: 10.1111/j.1749-6632.1991.tb19572.x. No abstract available.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Thomas B Friedman, Ph.D. principal investigator
National Institute on Deafness and Other Communication Disorders (NIDCD)
2 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Sensorineural Hearing Loss and Hearing Disorder, run by National Institute on Deafness and Other Communication Disorders (NIDCD) at 2 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 5 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States, Nigeria. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To define and characterize the phenotypes and natural histories of families with segregating hereditary disorders of balance or hearing and to identify the possible mutations and genes by genetic analysis (time frame: Ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00023049, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Nov 2026.