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View Clinical Trial (Medical Research Study)
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Genetic Analysis of Hereditary Disorders of Hearing and Balance - NCT00023049-20892 (Clinical Trial 113740)
Permalink: http://www.ClinicalConnection.com/exp/ExpandedPatientViewStudy113740.aspx
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| City: |
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Bethesda |
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State:
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MD |
| Zip Code: |
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20892 |
| Conditions: |
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Sensorineural Hearing Loss - Hearing Disorder - Vestibular Disease |
| Purpose: |
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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.
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| Study summary: |
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Hereditary hearing impairment is a genetically heterogeneous disorder that can be caused by
mutations in any one of hundreds of different genes. Approximately 20 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, and/or candidate gene mutation analyses; (3) and
correlate observed phenotypes with the corresponding mutations and functions of the
underlying genes. |
| Criteria: |
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- INCLUSION CRITERIA
Patients with known SNHL and/or peripheral vestibular dysfunction will be recruited.
It is anticipated that, in most cases, patients will be recruited whose disorders do not
appear to be syndromic (i.e., are not associated with extra-auditory or extra-vestibular
features).
Patients segregating abnormal auditory or vestibular phenotypes associated with novel
syndromic phenotypes, or syndromes in which the causative gene has not been identified,
will be eligible for this study.
The majority of subjects will be members of large families with multiple individuals
affected with a hearing or balance disorder.
Sporadic cases will occasionally be included when the phenotype has features suggestive of
mutations in one or a few particular candidate genes, since autosomal or X-Linked
recessive inheritance can appear to be sporadic.
Children will be included when they are affected with the mutant phenotype or, based upon
pedigree analysis, they may not be unaffected but are genetically informative and
contributory for linkage mapping and identification of the mutated gene segregating in
their family.
EXCLUSION CRITERIA
Patients will be excluded when their hearing or vestibular dysfunction is known to be
caused by a nongenetic etiology such as trauma, infection, metabolic or immunologic
disorders, or exposure to ototoxic agents such as noise or aminoglycoside antibiotics. |
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| Study is available at: |
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National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, MD 20892
United States
Primary Contact:
Patient Recruitment and Public Liaison Office
Email: prpl@mail.cc.nih.gov
Phone: (800) 411-1222 |
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If you are interested in this clinical trial please use the contact information above. If you would like to get additional information about this clinical trial please visit ClinicalTrials.gov.
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| Data Source: |
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ClinicalTrials.gov |
| Date Processed: |
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February 15, 2010 |
Modifications to
this listing: |
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Only selected fields are shown, please use the link
above to view all information about this clinical trial. |
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Clinical trials are medical research studies designed to test the safety and/or
effectiveness of new drugs, devices, or treatments in humans. These studies are
conducted worldwide for a range of conditions and illnesses. Learn more about
clinical research and participating in a study at
About Clinical Trials.
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