Search / Trial NCT00001347

Study of Usher Syndromes, Type 1 and Type 2

Launched by NATIONAL EYE INSTITUTE (NEI) · Nov 3, 1999

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Trial Information

Current as of March 05, 2024

Completed

Keywords

Linkage Analysis Genomic Dna Pedigree Analysis Usher Syndrome Usher Syndrome Type 1 Usher Syndrome Type 2

Description

The Usher Syndromes (USH), characterized by autosomal recessive inheritance, are genotypically distinct diseases which share specific phenotypic characteristics. Affected individuals have congenital neurosensory hearing impairment of variable severity and a progressive pigmentary retinal degeneration commonly referred to as retinitis pigmentosa. Interfamilial differences in USH patients are greater than intrafamilial differences and investigators have proposed at least two distinct phenotype types; Usher Syndrome type 1 (USH 1) and Usher Syndrome type 2 (USH 2) (Fishman 1983). Patients with...

Gender

All

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.

Attachments

readout_NCT00001347_2024-03-05.pdf

4.5 MB

NCT00001347_study_protocol.pdf

4.5 MB

About company

The National Institute of Allergy and Infectious Diseases (NIAID, /ˈnaɪ.æd/) is one of the 27 institutes and centers that make up the National Institutes of Health (NIH), an agency of the United States Department of Health and Human Services (HHS). NIAID's mission is to conduct basic and applied research to better understand, treat, and prevent infectious, immunologic, and allergic diseases.

Contacts

JC

Jennifer Cobb

Immunology at National Institute of Allergy and Infectious Diseases (NIAID)

Locations

Bethesda, Maryland, United States

People applied

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported

Reviews (48)

4.6

All reviews come from applied patients

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Leslie Alexander
20 September 2023

Duis aute irure dolor in reprehenderit in voluptate velit esse cillum dolore eu fugiat nulla pariatur. Excepteur sint occaecat cupidatat non proident, sunt in culpa qui officia deserunt mollit anim id est laborum?

Michael Foster
20 September 2023

Duis aute irure dolor in reprehenderit in voluptate velit esse cillum dolore eu fugiat nulla pariatur. Excepteur sint occaecat cupidatat non proident, sunt in culpa qui officia deserunt mollit anim id est laborum?

Dries Vincent
20 September 2023

Duis aute irure dolor in reprehenderit in voluptate velit esse cillum dolore eu fugiat nulla pariatur. Excepteur sint occaecat cupidatat non proident, sunt in culpa qui officia deserunt mollit anim id est laborum?

Leslie Alexander
20 September 2023

Duis aute irure dolor in reprehenderit in voluptate velit esse cillum dolore eu fugiat nulla pariatur. Excepteur sint occaecat cupidatat non proident, sunt in culpa qui officia deserunt mollit anim id est laborum?

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