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Sponsored by: |
National Eye Institute (NEI) |
Information provided by: | National Institutes of Health Clinical Center (CC) |
ClinicalTrials.gov Identifier: | NCT00106743 |
This study will explore clinical and genetic aspects of Usher syndrome, an inherited disease causing deafness or impaired hearing, visual problems, and, in some cases, unsteadiness or balance problems. Patients with type 1 Usher syndrome usually are deaf from birth and have speech and balance problems. Patients with type 2 disease generally are hearing impaired but have no balance problems. Patients with type 3 disease have progressive hearing loss and balance problems. All patients develop retinitis pigmentosa, an eye disease that causes poor night vision and eventually, blindness.
Patients of any age with Usher syndrome may be eligible for this study. Patients who have had eye and hearing evaluations are asked to send their medical records to the research team at the National Eye Institute (NEI) for review. They are also asked to have a blood sample drawn by a medical professional and sent to NEI for genetic analysis. Finally, they are interviewed about their family histories, particularly about other relative with eye disease. Patients who have not been evaluated previously have the following tests and procedures at NIH:
Condition |
Retinitis Pigmentosa Syndromic Congenital Deafness Usher Syndrome Retinitis Pigmentosa and Deafness Progressive Hearing Loss Retinitis Pigmentosa |
Genetics Home Reference related topics: | Lenz microphthalmia syndrome nonsyndromic deafness oculofaciocardiodental syndrome Peters plus syndrome Usher syndrome X-linked juvenile retinoschisis |
MedlinePlus related topics: | Eye Diseases Hearing Disorders and Deafness Usher Syndrome |
Study Type: | Observational |
Official Title: | Natural History and Genetic Studies of Usher Syndrome |
Ages Eligible for Study: | 2 Years and older |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
The patients must have documentation of neurosensory hearing loss and retinitis pigmentosa and fulfill the clinical characteristics for USH1, USH2 as defined by the Usher syndrome consortium (Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, Moller CG, Pelias MZ, Tranebjaerg L. Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet. 1994 Mar 1;50(1):32-8). Patients with documented presence of retinitis pigmentosa, severe to profound hearing loss and absent vestibular responses will be categorized as Usher type I. Patients with documented presence of retinitis pigmentosa, moderate to severe hearing loss and normal vestibular responses will be categorized as Usher type II. Patients with documented presence of retinitis pigmentosa, progressive hearing loss and variable vestibular responses will be categorized as Usher type III.
EXCLUSION CRITERIA:
Intrauterine and childhood infections, and intrauterine and birth complications can result in trauma to both the auditory or visual system and a positive history for these conditions will necessitate exclusion from the study. Patients with concurrent inherited or acquired conditions that significantly affect the visual and/or auditory system and significantly alter the phenotype will be excluded. Also patients unwilling to provide a blood sample or unable to undergo the study procedures will be excluded from the study.
Contact: Patient Recruitment and Public Liaison Office | (800) 411-1222 | prpl@mail.cc.nih.gov |
Contact: TTY | 1-866-411-1010 |
United States, Maryland | |||||
National Eye Institute (NEI), 9000 Rockville Pike | Recruiting | ||||
Bethesda, Maryland, United States, 20892 | |||||
Israel | |||||
Bnai Zion Medical Center | Recruiting | ||||
Haifa, Israel |
NIH Clinical Center Detailed Web Page 
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Study ID Numbers: | 050096, 05-EI-0096 |
First Received: | March 29, 2005 |
Last Updated: | July 18, 2008 |
ClinicalTrials.gov Identifier: | NCT00106743 |
Health Authority: | United States: Federal Government |
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