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).
RUSH2A Extension Study: The purpose of this addendum is to extend RUSH2A to 7- and 9-year visits, with the goal to use longer term data to further develop and support early candidate endpoints as possible clinical trial outcomes.
Eligibility
Sex
ALL
Min age
8 Years
Max age
—
Healthy volunteers
No
Inclusion Criteria:
* 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
Exclusion Criteria:
* Mutations in genes that cause autosomal dominant RP, X-linked RP, or presence of biallelic mutations in autosomal recessive RP/retinal dystrophy genes other than USH2A
* Expected to enter experimental treatment trial at any time during this study
* History of more than 1 year of cumulative treatment, at any time, with an agent associated with pigmentary retinopathy (including hydroxychloroquine, chloroquine, thioridazine, and deferoxamine)
Ocular Exclusion Criteria
If either eye has any of the following, the patient is not eligible:
* Current vitreous hemorrhage
* Current or any history of rhegmatogenous retinal detachment
* Current or any history of (e.g., prior to cataract or refractive surgery) spherical equivalent of the refractive error worse than -8 Diopters of myopia
* History of intraocular surgery (e.g., cataract surgery, vitrectomy, penetrating keratoplasty, or LASIK) within the last 3 months
* Current or any history of confirmed diagnosis of glaucoma (e.g., based on glaucoma visual field, nerve changes, or glaucoma filtering surgery)
* Current or any history of retinal vascular occlusion or proliferative diabetic retinopathy
* Expected to have cataract removal surgery during the study
* History or current evidence of ocular disease that, in the opinion of the investigator, may confound assessment of visual function
* History of treatment for retinitis pigmentosa that could affect the progression of retinal degeneration (including participation in a clinical trial within the last year or a retained drug delivery device)
Primary outcome measure(s)
Characterize Change using Visual Field Sensitivity — Baseline and every year until study completion (4 years) Measured by static perimetry with topographic analysis (Hill of Vision)
Characterize Change using Visual Acuity — Baseline and every year until study completion (4 years) Best corrected E-ETDRS visual acuity
Characterize Change using Mean Retinal Sensitivity — Baseline and every year until study completion (4 years) Measured by fundus-guided microperimetry
Characterize Change in EZ area — Baseline and every year until study completion (4 years) Measured by SD-OCT
Characterize Change in Rod- and cone-mediated retinal function — Baseline and every year until study completion (4 years) Measured by FST
Characterize Change in Retinal function — Baseline and after four years Full-field ERG amplitudes and timing in response to rod- and cone-specific stimuli
Trial sites (14)
Facility
City
Region
Status
University of California, San Francisco
San Francisco
California
Vitreo-Retinal Associates
Gainesville
Florida
Wilmer Eye Institute at Johns Hopkins
Baltimore
Maryland
Massachusetts Eye and Ear
Boston
Massachusetts
Kellogg Eye Center, University of Michigan
Ann Arbor
Michigan
OHSU Casey Eye Institute
Portland
Oregon
Retina Foundation of the Southwest
Dallas
Texas
Baylor Eye Physicians and Surgeons
Houston
Texas
Moran Eye Center, University of Utah
Salt Lake City
Utah
Hospital for Sick Children
Toronto
Canada
Centre hospitalier National d'Ophtalmologie des Quinze-Vingts
Paris
France
University of Tubingen
Tübingen
Germany
Radboud University
Nijmegen
Netherlands
Moorfields Eye Hospital
London
United Kingdom
More Jaeb Center for Health Research trials in Germany
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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