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Rate of Progression in USH2A-related Retinal Degeneration

Active Not RecruitingN/A

Sponsor: Jaeb Center for Health Research

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

Countries: United States, Canada, France, Germany, Netherlands, United Kingdom

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 overview

Sex: ALL

Age: 8 Years to —

Healthy volunteers: No

Study type: OBSERVATIONAL

Eligibility criteria

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)

Locations (14)

San Francisco, California, United States
Gainesville, Florida, United States
Baltimore, Maryland, United States
Boston, Massachusetts, United States
Ann Arbor, Michigan, United States
Portland, Oregon, United States
Dallas, Texas, United States
Houston, Texas, United States
Salt Lake City, Utah, United States
Toronto, Canada
Paris, France
Tübingen, Germany
Nijmegen, Netherlands
London, United Kingdom