NCT00023036

Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts

Completed Last updated 5 February 2026

What this trial tests

trial in Sensorineural Hearing Loss in 324 participants. Completed.

Timeline

4 September 2001

Quick facts

Lead sponsor	National Institute on Deafness and Other Communication Disorders (NIDCD)
Status	Completed
Study type	OBSERVATIONAL
Enrollment	324
Start date	4 September 2001
Sites	1 location across United States

Conditions studied

• Sensorineural Hearing Loss — all drugs for Sensorineural Hearing Loss →
• Cytomegalovirus Infection — all drugs for Cytomegalovirus Infection →

Sponsor

National Institute on Deafness and Other Communication Disorders (NIDCD)

Who can join

Under 99, any sex, with Sensorineural Hearing Loss or Cytomegalovirus Infection. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

No peer-reviewed publications indexed yet for this trial. Completed trials usually publish results within 12-18 months.