Status:
COMPLETED
Natural History and Genetic Studies of Usher Syndrome
Lead Sponsor:
National Eye Institute (NEI)
Conditions:
Retinitis Pigmentosa Syndromic
Congenital Deafness
Eligibility:
All Genders
2+ years
Brief Summary
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...
Detailed Description
Background and objectives: The Usher syndromes are a group of clinically variable and genetically heterogeneous autosomal recessive syndromes. On the basis of clinical findings, at least three types ...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- Eligible participants must:
- have documented neurosensory hearing loss and retinitis pigmentosa and fulfill the clinical characteristics for USH1, USH2 and USH3 as defined by the Usher syndrome consortium. ; OR
- be unaffected family members of a proband with Usher s syndrome, primarily parents and siblings. Family members will be considered unaffected by history if they have had previous normal ophthalmologic and hearing examinations and if they don't have decreased night or peripheral vision.
- EXCLUSION CRITERIA:
- Patients will be ineligible if they:
- had an intrauterine infection, perinatal/congenital infections, or intrauterine and birth complications. These conditions can result in damage to both the auditory or visual system.
- have concurrent inherited or acquired conditions that affect the visual and/or auditory system and significantly alter the phenotype.
- Both affected and unaffected individuals will be ineligible if they:
- Are unwilling or unable to provide a blood sample or unable to undergo the study procedures.
- Are younger than 2 years old.
Exclusion
Key Trial Info
Start Date :
March 21 2005
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
April 30 2019
Estimated Enrollment :
249 Patients enrolled
Trial Details
Trial ID
NCT00106743
Start Date
March 21 2005
End Date
April 30 2019
Last Update
December 12 2019
Active Locations (2)
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1
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
2
Queens College of the City University of New York
New York, New York, United States