Ignite Creation Date:
2024-05-05 @ 11:24 AM
Last Modification Date:
2024-10-26 @ 9:06 AM
Study NCT ID:
NCT00023049
Status:
COMPLETED
Last Update Posted:
2024-06-21
First Post:
2001-08-21
Brief Title:
Genetic Analysis of Hereditary Disorders of Hearing and Balance
Sponsor:
National Institute on Deafness and Other Communication Disorders NIDCD
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Genetic Analysis of Hereditary Disorders of Hearing and Balance
Status:
COMPLETED
Status Verified Date:
2024-03-26
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 the genetic causes of hereditary hearing loss or balance disorders
People with a hearing or balance disorder that affects more than one family member may be eligible for this study They and their immediate family members may undergo some or all of the following 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 tests to see if balance functions of the inner ear are associated with the hearing loss In one test the subject wears goggles and watches moving lights while cold or warm air is blown into the ears A second test involves sitting in a spinning chair in a quiet dark room
Photograph - A photograph may be taken as a record of eye shape and color distance between the eyes and hair color
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
People with a hearing or balance disorder that affects more than one family member may be eligible for this study They and their immediate family members may undergo some or all of the following 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 tests to see if balance functions of the inner ear are associated with the hearing loss In one test the subject wears goggles and watches moving lights while cold or warm air is blown into the ears A second test involves sitting in a spinning chair in a quiet dark room
Photograph - A photograph may be taken as a record of eye shape and color distance between the eyes and hair color
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:
Hereditary hearing impairment is a genetically heterogeneous disorder that can be caused by mutations in any one of hundreds of different genes Approximately 120 genes have now been identified in which mutations can cause nonsyndromic sensorineural hearing loss The identification and analysis of these genes and their mutations are providing critical insights into the development structure and function of the auditory system as well as the molecular mechanisms associated with disruption of these processes In contrast the molecular mechanisms underlying familial disorders affecting peripheral vestibular function appear to be more rare have not been well described and are less well understood The peripheral auditory and vestibular systems share many common features in both health and disease and many hereditary hearing loss disorders also affect vestibular function The purpose of this study is to identify genes and mutations causing hereditary disorders of hearing balance or both Members of families segregating hereditary disorders of hearing or balance will be enrolled in the proposed study in order to 1 define and characterize the phenotypes and natural histories 2 identify the underlying causative mutations and genes by linkage positional cloning andor candidate gene mutation analyses 3 and correlate observed phenotypes with the corresponding mutations and functions of the underlying genes
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-0229 | None | None | None |