Rate of Progression in USH2A-related Retinal Degeneration

Running, not enrolling

Conditions studied: Usher Syndrome, Type 2A, Retinitis Pigmentosa 39

In brief

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.

Key facts

Study ID

NCT03146078

Run by

Jaeb Center for Health Research

People needed

127

Starts

2017-08-11

Expected to finish

2029-12-15

Last updated by the study team

2026-07-23

Who can join

Age: 8 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• 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)

Where it is running

• University of California, San Francisco — San Francisco, California, United States
• Vitreo-Retinal Associates — Gainesville, Florida, United States
• Wilmer Eye Institute at Johns Hopkins — Baltimore, Maryland, United States
• Massachusetts Eye and Ear — Boston, Massachusetts, United States
• Kellogg Eye Center, University of Michigan — Ann Arbor, Michigan, United States
• OHSU Casey Eye Institute — Portland, Oregon, United States
• Retina Foundation of the Southwest — Dallas, Texas, United States
• Baylor Eye Physicians and Surgeons — Houston, Texas, United States
• Moran Eye Center, University of Utah — Salt Lake City, Utah, United States
• 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

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.