Rate of Progression in EYS Related Retinal Degeneration

Completed

Conditions studied: Retinitis Pigmentosa, Eye Diseases

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 EYS mutations in order to accelerate the development of outcome measures for clinical trials.

Key facts

Study ID

NCT04127006

Run by

Jaeb Center for Health Research

People needed

103

Starts

2020-02-25

Expected to finish

2026-02-09

Last updated by the study team

2026-08-05

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Willing to participate in the study and able to communicate consent during the consent process
• Ability to return for all study visits over 48 months
• Age ≥ 18 years
• Must meet one of the Genetic Screening Criteria, defined below:
• Screening Group A: At least 2 disease-causing variants in the EYS gene which are homozygous or heterozygous in trans, based on a report from a clinically-certified lab (or a report from a research lab that has been pre- approved by the Genetics Committee)
• Screening Group B: Only 1 disease-causing variant in the EYS gene, based on a report from a clinically-certified lab (or a report from a research lab which has been pre-approved by the Genetics Committee)
• Screening Group C: At least 2 disease-causing variants in the EYS gene which are unknown phase, based on a report from a clinically-certified lab (or a report from a research lab which has been pre-approved by the Genetics Committee)
• Note pertaining to all Screening Groups: if a participant has a variant(s) of unknown significance, he/she would still qualify as long as there is at least 1 disease-causing variant(s) on the EYS gene.
• Ocular Inclusion Criteria:
• Both eyes must meet all of the following:
• Clinical diagnosis of retinal dystrophy
• Clear ocular media and adequate pupil dilation to permit good quality photographic imaging

You may not qualify if…

• Mutations in genes that cause autosomal dominant retinitis pigmentosa (ADRP), X-linked retinitis pigmentosa (RP), or presence of biallelic mutations in autosomal recessive RP/retinal dystrophy genes other than EYS
• 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 participant 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 glaucomatous VF changes or nerve changes, or history of glaucoma filtering surgery)
• Current or any history of retinal vascular occlusion or proliferative diabetic retinopathy
• History or current evidence of ocular disease that, in the opinion of the investigator, may confound assessment of visual function
• History or evidence of active treatment for retinitis pigmentosa that could affect the progression of retinal degeneration, including:
• Any use of ocular stem cell or gene therapy
• Any treatment with ocriplasmin
• Treatment with an ophthalmic oligonucleotide within the last 9 months (last treatment date is less than 9 months prior to Screening Visit date)
• Treatment with any other product within five times the expected half-life of the product (time from last treatment date to Screening Visit date is at least 5 times the half-life of the given product)

Where it is running

• University of California, San Francisco — San Francisco, California, United States
• Colorado Retina Associates — Denver, Colorado, United States
• Vitreo-Retinal Associates — Gainesville, Florida, United States
• University of Miami: Neuro-ophthalmology Department — Miami, Florida, United States
• Emory Eye Center — Atlanta, Georgia, 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
• Duke University Eye Center — Durham, North Carolina, United States
• Oregon Health Science University Casey Eye Institute — Portland, Oregon, United States
• University of Pittsburgh Medical Center — Pittsburgh, Pennsylvania, United States
• Retina Foundation of the Southwest — Dallas, Texas, United States
• University of Wisconsin-Madison: McPherson Eye Research Institute — Madison, Wisconsin, United States
• Hospital for Sick Children — Toronto, Canada
• Helsinki University Hospital — Helsinki, Finland
• Centre hospitalier National d'Ophtalmologie des Quinze-Vingts — Paris, France
• University of Tubingen — Tübingen, Germany
• Hadassah Medical Center — Jerusalem, Israel, Israel
• Radboud University — Nijmegen, Netherlands

Full record on ClinicalTrials.gov

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