Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts
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|ClinicalTrials.gov Identifier: NCT00023036|
Recruitment Status : Completed
First Posted : August 22, 2001
Last Update Posted : May 20, 2022
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.
|Condition or disease|
|Sensorineural Hearing Loss Cytomegalovirus Infection|
|Study Type :||Observational|
|Actual Enrollment :||324 participants|
|Official Title:||Clinical and Molecular Analysis of Enlarged Vestibular Aqueducts|
|Actual Study Start Date :||September 4, 2001|
Patients with known or suspected nonsyndromic SNHL associated with EVA
Patients with nonsyndromic EVA
unaffected siblings and parents of affected family members
Other unaffected relatives; included if there is more than one sibship with affected family
- 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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00023036
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Thomas B Friedman, Ph.D.||National Institute on Deafness and Other Communication Disorders (NIDCD)|