Sensorineural Hearing LossNCT00023036
Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts
An observational study of Sensorineural Hearing Loss and Cytomegalovirus Infection, run by National Institute on Deafness and Other Communication Disorders (NIDCD) at 1 site in United States.
Trial summary
This study will try to identify and understand the genetic factors that lead to an inner ear malformation called "enlarged vestibular aqueducts", that can be associated with hearing loss. Read more about this study
- Who is it for?
- Ages Up to 99 years
- Conditions the study is for
- Sensorineural Hearing Loss, Cytomegalovirus Infection
- How many people
- 324 participants
- Where
- 1 siteUnited States
- Study dates
- 4 Sep 2001to 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: Affected and non-affected family members and affected single sporadic subjects with sensorineural hearing loss and enlarged vestibular aqueducts.
Who may be able to join
- Subjects must have or be a family member of a participant with known or non-syndromic SNHL associated with EVA or have evidence of other findings that suggest that EVA might be part of a novel phenotype
- There must be at least two participating affected family members with one exception: if there is only one participating affected family member, there must be genetic test results identifying only one pathogenic mutant allele of SLC26A4
- Adults must be able to provide informed consent
- Minors must have a parent or guardian able to provide consent
- Age between 0-99.
Who cannot join
- Subjects with known exposure to physical or chemical teratogens in utero that could account for their inner ear malformations such as thalidomide or radiation
- Any hearing loss that is associated with symptoms which meet the criteria of already known syndromes, such as, branchio-oto-renal (BOR) syndrome, which comprises system malformations and branchial cleft abnormalities and is caused by heterozygous mutations in the EYA1 gene.
- Previous genetic testing identifying two pathogenic mutant alleles of SLC26A4.
- Prospective study subjects who are cognitively impaired and lack consent capacity, will not be enrolled.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: Clinical and Molecular Analysis of Enlarged Vestibular Aqueducts
This study will try to identify and understand the genetic factors that lead to an inner ear malformation called "enlarged vestibular aqueducts", that can be associated with hearing loss.
Patients with sensorineural hearing loss with or without inner ear malformations and their parents and siblings may be eligible for this study. Participants and their immediate family members, may undergo some or all of the following tests and 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 test (VEMP) to see if balance functions of the inner ear are associated with the hearing loss Electrodes will be placed behind your ear and at the base of your neck. From a reclining position, you will be asked to raise your head while clicking sounds are played into your ears. - Ultrasound tests - An inner ear malformation called EVA (enlargement of the vestibular aqueduct) indicates that a genetic disorder called Pendred syndrome may be the cause. Because thyroid abnormalities are also associated with Pendred syndrome, an ultrasound examination of the thyroid gland may be done.
- 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
Nonsyndromic hereditary hearing impairment is a genetically heterogeneous disorder that can be caused by mutations in any one of at least 60 different genes. Enlargement of the vestibular aqueduct (EVA) is a radiologic finding known to be associated with mutations in one of these genes, the Pendred syndrome gene (SLC26A4, formerly known as PDS). EVA may thus serve as a clinically useful marker to facilitate the diagnosis of hearing impairment. Recent data from our laboratory and others indicates that only a subset of individuals with EVA have SLC26A4 mutations, and therefore some EVA cases are likely to be caused by other genes, nongenetic factors, or a combination of these etiologies. Families with two or more individuals with hearing impairment and EVA will be enrolled in this study in order to identify other genetic factors that cause EVA. Siblings and parents may also be enrolled in order to define inheritance and to perform molecular genetic analyses.
- Keywords
- Genetics, Deafness, Genetic Markers, Genetic Analysis, GENETIC LINKAGE, Natural History, Hearing Impairment, Nonsyndromic Hereditary Hearing Impairment, SNHL, Inner Ear, Enlarged Vestibular Aqueducts, EVA
- Medical subject headings
- Hearing Loss, Sensorineural, Cytomegalovirus Infections, Deafness, Hearing Loss, Nonsyndromic sensorineural 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 or suspected nonsyndromic SNHL associated with EVA | |
| 2 | Patients with nonsyndromic EVA | |
| 3 | unaffected siblings and parents of affected family members | |
| 4 | Other unaffected relatives; included if there is more than one sibship with affected family |
What is being measured
The primary outcome is the main question the study is designed to answer.
By using genetic linkage, identify and map possible additional mutant alleles of SLC26A4 or other genes causing nonsyndromic EVA in patients with one or no detectable mutant allele of SLC26A4
Identify genes other than SLC26A4 that cause EVA.
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 start4 Sep 2001
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
- 324 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
- NCT00023036
- Sponsor's protocol ID
- 010228
- Other IDs
- 01-DC-0228
- Status last verified
- 2 Feb 2026
- First submitted
- 21 Aug 2001
- Last updated
- 29 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Bauman NM, Kirby-Keyser LJ, Dolan KD, Wexler D, Gantz BJ, McCabe BF, Bale JF Jr. Mondini dysplasia and congenital cytomegalovirus infection. J Pediatr. 1994 Jan;124(1):71-8. doi: 10.1016/s0022-3476(94)70256-x.
PubMed 8283378Dahle AJ, Fowler KB, Wright JD, Boppana SB, Britt WJ, Pass RF. Longitudinal investigation of hearing disorders in children with congenital cytomegalovirus. J Am Acad Audiol. 2000 May;11(5):283-90.
PubMed 10821506Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet. 1997 Dec;17(4):411-22. doi: 10.1038/ng1297-411.
PubMed 9398842
Study at a glance
From the registry record, last updated by the sponsor on 29 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Molecular Analysis of Enlarged Vestibular Aqueducts
- ClinicalTrials.gov ID
- NCT00023036
- Acronym / sponsor ID
- 010228
- Keywords
- Genetics, Deafness, Genetic Markers, Genetic Analysis, GENETIC LINKAGE, Natural History, Hearing Impairment, Nonsyndromic Hereditary Hearing Impairment
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 324 participants (actual)
- Lead sponsor
- National Institute on Deafness and Other Communication Disorders (NIDCD)US National Institutes of Health
- Study start
- 4 Sep 2001 (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 and understand the genetic factors that lead to an inner ear malformation called "enlarged vestibular aqueducts", that can be associated with hearing loss.
Patients with sensorineural hearing loss with or without inner ear malformations and their parents and siblings may be eligible for this study. Participants and their immediate family members, may undergo some or all of the following tests and 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 test (VEMP) to see if balance functions of the inner ear are associated with the hearing loss Electrodes will be placed behind your ear and at the base of your neck. From a reclining position, you will be asked to raise your head while clicking sounds are played into your ears. - Ultrasound tests - An inner ear malformation called EVA (enlargement of the vestibular aqueduct) indicates that a genetic disorder called Pendred syndrome may be the cause. Because thyroid abnormalities are also associated with Pendred syndrome, an ultrasound examination of the thyroid gland may be done.
- 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
Nonsyndromic hereditary hearing impairment is a genetically heterogeneous disorder that can be caused by mutations in any one of at least 60 different genes. Enlargement of the vestibular aqueduct (EVA) is a radiologic finding known to be associated with mutations in one of these genes, the Pendred syndrome gene (SLC26A4, formerly known as PDS). EVA may thus serve as a clinically useful marker to facilitate the diagnosis of hearing impairment. Recent data from our laboratory and others indicates that only a subset of individuals with EVA have SLC26A4 mutations, and therefore some EVA cases are likely to be caused by other genes, nongenetic factors, or a combination of these etiologies. Families with two or more individuals with hearing impairment and EVA will be enrolled in this study in order to identify other genetic factors that cause EVA. Siblings and parents may also be enrolled in order to define inheritance and to perform molecular genetic analyses.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| 1 | – | –Patients with known or suspected nonsyndromic SNHL associated with EVA |
| 2 | – | –Patients with nonsyndromic EVA |
| 3 | – | –unaffected siblings and parents of affected family members |
| 4 | – | –Other unaffected relatives; included if there is more than one sibship with affected family |
Who may qualify
- Ages
- Up to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Affected and non-affected family members and affected single sporadic subjects with sensorineural hearing loss and enlarged vestibular aqueducts.
Key inclusion criteria (5 listed)
- Subjects must have or be a family member of a participant with known or non-syndromic SNHL associated with EVA or have evidence of other findings that suggest that EVA might be part of a novel phenotype
- There must be at least two participating affected family members with one exception: if there is only one participating affected family member, there must be genetic test results identifying only one pathogenic mutant allele of SLC26A4
- Adults must be able to provide informed consent
- Minors must have a parent or guardian able to provide consent
- Age between 0-99.
Key exclusion criteria (4 listed)
- Subjects with known exposure to physical or chemical teratogens in utero that could account for their inner ear malformations such as thalidomide or radiation
- Any hearing loss that is associated with symptoms which meet the criteria of already known syndromes, such as, branchio-oto-renal (BOR) syndrome, which comprises system malformations and branchial cleft abnormalities and is caused by heterozygous mutations in the EYA1 gene.
- Previous genetic testing identifying two pathogenic mutant alleles of SLC26A4.
- Prospective study subjects who are cognitively impaired and lack consent capacity, will not be enrolled.
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
By using genetic linkage, identify and map possible additional mutant alleles of SLC26A4 or other genes causing nonsyndromic EVA in patients with one or no detectable mutant allele of SLC26A4
Time frame: ongoing
Identify genes other than SLC26A4 that cause EVA.
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 29 Oct 2026.
- Background: PubMed 8283378Bauman NM, Kirby-Keyser LJ, Dolan KD, Wexler D, Gantz BJ, McCabe BF, Bale JF Jr. Mondini dysplasia and congenital cytomegalovirus infection. J Pediatr. 1994 Jan;124(1):71-8. doi: 10.1016/s0022-3476(94)70256-x.
- Background: PubMed 10821506Dahle AJ, Fowler KB, Wright JD, Boppana SB, Britt WJ, Pass RF. Longitudinal investigation of hearing disorders in children with congenital cytomegalovirus. J Am Acad Audiol. 2000 May;11(5):283-90.
- Background: PubMed 9398842Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet. 1997 Dec;17(4):411-22. doi: 10.1038/ng1297-411.
- 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)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Sensorineural Hearing Loss and Cytomegalovirus Infection, run by National Institute on Deafness and Other Communication Disorders (NIDCD) at 1 site in United States.
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 5 inclusion and 4 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 29 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. 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?
By using genetic linkage, identify and map possible additional mutant alleles of SLC26A4 or other genes causing nonsyndromic EVA in patients with one or no detectable mutant allele of SLC26A4 (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 NCT00023036, 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 29 Oct 2026.