Trial record 12 of 30 for:    NIDCD [Lead]

Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts

This study is currently recruiting participants. (see Contacts and Locations)
Verified October 2013 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00023036
First received: August 21, 2001
Last updated: March 14, 2014
Last verified: October 2013
  Purpose

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.

Condition
Sensorineural Hearing Loss
Cytomegalovirus Infection

Study Type: Observational
Official Title: Clinical and Molecular Analysis of Enlarged Vestibular Aqueducts

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 500
Study Start Date: August 2001
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.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • 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 members.

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.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00023036

Contacts
Contact: Julie Muskett (301) 435-1574 muskettj@mail.nih.gov
Contact: Andrew J Griffith, M.D. (301) 402-2829 griffita@mail.nih.gov

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
Sponsors and Collaborators
Investigators
Principal Investigator: Andrew J Griffith, M.D. National Institute on Deafness and Other Communication Disorders (NIDCD)
  More Information

Additional Information:
Publications:
ClinicalTrials.gov Identifier: NCT00023036     History of Changes
Other Study ID Numbers: 010228, 01-DC-0228
Study First Received: August 21, 2001
Last Updated: March 14, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Genetics
Deafness
EVA
Pendred
Hearing
Hearing Impairment
Nonsyndromic Hereditary Hearing Impairment
SNHL
Inner Ear
Enlarged Vestibular Aqueducts

Additional relevant MeSH terms:
Cytomegalovirus Infections
Hearing Loss
Deafness
Hearing Loss, Sensorineural
Herpesviridae Infections
DNA Virus Infections
Virus Diseases
Hearing Disorders
Ear Diseases
Otorhinolaryngologic Diseases
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms

ClinicalTrials.gov processed this record on July 22, 2014