Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts

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Brief Title

Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts

Official Title

Clinical and Molecular Analysis of Enlarged Vestibular Aqueducts

Brief 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

      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

        -  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 Type


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


Sensorineural Hearing Loss

Study Arms / Comparison Groups

Description:  Patients with known or suspected nonsyndromic SNHL associated with EVA


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

September 4, 2001

Eligibility 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.


        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.




N/A - 99 Years

Accepts Healthy Volunteers



Thomas B Friedman, Ph.D., , 

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Secondary IDs


Responsible Party


Study Sponsor

National Institute on Deafness and Other Communication Disorders (NIDCD)

Study Sponsor

Thomas B Friedman, Ph.D., Principal Investigator, National Institute on Deafness and Other Communication Disorders (NIDCD)

Verification Date

August 9, 2022