Status:
COMPLETED
Study of Usher Syndromes, Type 1 and Type 2
Lead Sponsor:
National Eye Institute (NEI)
Conditions:
Retinitis Pigmentosa
Eligibility:
All Genders
Brief Summary
The purpose of this investigation is to gain additional knowledge about what causes type 1 and type 2 Usher syndrome-inherited diseases that can cause balance problems and impaired hearing and vision-...
Detailed Description
The Usher Syndromes (USH), characterized by autosomal recessive inheritance, are genotypically distinct diseases which share specific phenotypic characteristics. Affected individuals have congenital n...
Eligibility Criteria
Inclusion Criteria:
- Patients must have documentation of neurosensory hearing loss and retinitis pigmentosa and fulfill the clinical characteristics (Table) as accepted for USH 1 and USH 2.
- The minimal test battery will identify all patients with USH 1 and USH 2 as well as possible subtypes.
- Candidates will be recruited from lists of patients willing to participate in research studies compiled by the R.P. Foundation, and by referral from their private physicians.
- On occasion additional family members will be studied after an initial individual is ascertained as above.
- No patients with 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.
Key Trial Info
Start Date :
June 1 1993
Trial Type :
OBSERVATIONAL
End Date :
August 1 2002
Estimated Enrollment :
200 Patients enrolled
Trial Details
Trial ID
NCT00001347
Start Date
June 1 1993
End Date
August 1 2002
Last Update
March 4 2008
Active Locations (1)
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1
National Eye Institute (NEI)
Bethesda, Maryland, United States, 20892