Rate of Progression in USH2A-related Retinal Degeneration

Status: Active, not recruiting
Location: See all (16) locations...
Study Type: Observational
SUMMARY

The overall goal of this project funded by the Foundation Fighting Blindness is to characterize the natural history of disease progression in patients with USH2A related retinal degeneration associated with congenital hearing loss (Usher syndrome type 2a) or non-syndromic retinitis pigmentosa (RP39).

Eligibility
Participation Requirements
Sex: All
Minimum Age: 8
Healthy Volunteers: No
View:

• Willing and able to complete the informed consent process

• Ability to return for all study visits over 48 months if in the natural history study

• Age ≥ 8 years

• At least 2 pathogenic or likely pathogenic mutations in USH2A gene from a clinically certified lab report

• Ocular Inclusion Criteria

• Both eyes must meet all of the following:

• Clinical diagnosis of a rod-cone degeneration

• Clear ocular media and adequate pupil dilation to permit good quality photographic imaging

• Ability to perform kinetic and static perimetry reliably

Locations
United States
California
University of California, San Francisco
San Francisco
Florida
Vitreo-Retinal Associates
Gainesville
Massachusetts
Massachusetts Eye and Ear
Boston
Maryland
Wilmer Eye Institute at Johns Hopkins
Baltimore
Michigan
Kellogg Eye Center, University of Michigan
Ann Arbor
North Carolina
Duke University Eye Center
Durham
Oregon
OHSU Casey Eye Institute
Portland
Texas
Retina Foundation of the Southwest
Dallas
Baylor Eye Physicians and Surgeons
Houston
Utah
Moran Eye Center, University of Utah
Salt Lake City
Wisconsin
Medical College of Wiconsin
Milwaukee
Other Locations
Canada
Hospital for Sick Children
Toronto
France
Centre hospitalier National d'Ophtalmologie des Quinze-Vingts
Paris
Germany
University of Tubingen
Tübingen
Netherlands
Radboud University
Nijmegen
United Kingdom
Moorfields Eye Hospital
London
Time Frame
Start Date: August 11, 2017
Estimated Completion Date: January 2023
Participants
Target number of participants: 127
Treatments
Primary Cohort
Participants with baseline visual acuity ETDRS letter score of 54 or more [approximate Snellen equivalent 20/80 or better] and stable fixation and clinically determined [on Octopus 900 Pro] kinetic visual field III4e area 10° or more in the study eye (primary cohort) will be enrolled into the longitudinal natural history study
Secondary Cohort
Participants with baseline visual acuity ETDRS letter score of 53 or less [approximate Snellen equivalent 20/100 or worse] or unstable fixation or clinically determined [on Octopus 900 Pro] kinetic visual field III4e area less than 10°in the study eye (secondary cohort) will be enrolled in the cross-sectional baseline study
Authors
Mark Pennesi
Sponsors
Leads: Jaeb Center for Health Research
Collaborators: Foundation Fighting Blindness

This content was sourced from clinicaltrials.gov

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