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Clinical and Molecular Analysis of Enlarged Vestibular Aqueducts
This study is currently recruiting participants.
Summary | Eligibility | Citations | Contacts
Summary
Number |
01-DC-0228 |
Sponsoring Institute |
National Institute on Deafness and Other Communication Disorders (NIDCD) |
Recruitment Detail |
Type: Participants currently recruited/enrolled |
Referral Letter Required |
No |
Population Exclusion(s) |
None |
Special Instructions |
Currently Not Provided |
Keywords |
Genetics; |
Recruitment Keyword(s) |
Deafness; |
Condition(s) |
Sensorineural Hearing Loss; |
Investigational Drug(s) |
None |
Investigational Device(s) |
None |
Intervention(s) |
None |
Supporting Site |
|
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 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.
- 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. Also, ultrasound examination of the kidneys can detect malformations that may be inherited along with inner ear malformations associated with another genetic disorder called branchio-oto-renal (BOR) syndrome.
- 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.
- Perchlorate discharge test - Patients suspected of having Pendred syndrome will have this diagnostic test, which takes about 5 hours to complete. The patient swallows a capsule containing radioactive iodine, followed about 90 minutes later by three or four capsules of perchlorate, a type of salt. A monitor is then held over the neck and over the thigh for a few minutes once every 30 minutes.
Eligibility
INCLUSION CRITERIA:
Subjects must have or be a family member of a participant with known or non-syndromic SNHL associated with inner ear malformations
There must be at least two participating affected family member.
Adults must be able to provide informed consent
Minors must have a parent or guardian able to provide consent
Age between 0-99.
EXCLUSION CRITERIA:
Subjects with known exposure to physical or chemical teratogens in utero that could account for their inner ear malformations such as thalidomide or radiation
Any hearing loss that is associated with syndromes, such as, branchio-oto-renal (BOR) syndrome, which comprises system malformations and branchial cleft abnormalities and is caused by heterozygous mutations in the EYA1 gene.
Previous genetic testing identifying two pathogenic mutant alleles of SLC26A4.
Citations:
Contacts:
Principal Investigator |
Referral Contact |
For more information: |
| Andrew J. Griffith, M.D. National Institute on Deafness and Other Communication Disorders (NIDCD) National Institutes of Health BG 5RC RM 2B28 MSC 3320 5 RESEARCH CT ROCKVILLE MD 20892-3320 (301) 402-2829 griffita@mail.nih.gov |
Andrew J. Griffith, M.D. National Institute on Deafness and Other Communication Disorders (NIDCD) National Institutes of Health BG 5RC RM 2B28 MSC 3320 5 RESEARCH CT ROCKVILLE MD 20892-3320 (301) 402-2829 griffita@mail.nih.gov |
Patient Recruitment and Public Liaison Office Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 prpl@mail.cc.nih.gov |
Clinical Trials Number:
NCT00023036
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