Scientists hunt for genes behind inner ear malformation
NCT ID NCT00023036
First seen Jun 27, 2026 · Last updated Aug 05, 2026 · Updated 11 times
Summary
This study looked at 324 people with hearing loss and an inner ear problem called enlarged vestibular aqueducts. Researchers collected DNA, hearing tests, and scans to find genes that may cause the condition. The goal was to learn more about why it happens, not to test a treatment.
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Study facts
What this study's own registry entry says, in plain language.
- Participants
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324 people
The number who actually took part.
- Started
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Sep 2001
- Lead sponsor
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A government research agency
The lead sponsor is the US National Institutes of Health.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Affected and non-affected family members and affected single sporadic subjects with sensorineural hearing loss and enlarged vestibular aqueducts.
- Ages
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Up to 99 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
* INCLUSION CRITERIA: 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. EXCLUSION CRITERIA: 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.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
More trials for these conditions
Other studies related to the condition(s) this trial covers.
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