Ignite Creation Date:
2024-05-05 @ 11:24 AM
Last Modification Date:
2024-10-26 @ 9:06 AM
Study NCT ID:
NCT00023036
Status:
COMPLETED
Last Update Posted:
2024-07-01
First Post:
2001-08-21
Brief Title:
Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts
Sponsor:
National Institute on Deafness and Other Communication Disorders NIDCD
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Clinical and Molecular Analysis of Enlarged Vestibular Aqueducts
Status:
COMPLETED
Status Verified Date:
2024-05-15
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 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
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 01-DC-0228 | None | None | None |